{"id":22311,"date":"2021-07-29T09:49:57","date_gmt":"2021-07-29T02:49:57","guid":{"rendered":"https:\/\/e1ship.com\/?p=22311"},"modified":"2024-09-10T09:43:23","modified_gmt":"2024-09-10T02:43:23","slug":"trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu","status":"publish","type":"post","link":"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html","title":{"rendered":"TRUNG T\u00c2M N\u1ed8I TI\u1ebeT – CHUY\u1ec2N H\u00d3A – DI TRUY\u1ec0N V\u00c0 LI\u1ec6U PH\u00c1P PH\u00c2N T\u1eec"},"content":{"rendered":"

I. GI\u1edaI THI\u1ec6U<\/strong><\/h2>\n

1. T\u1ed5ng quan<\/strong><\/h3>\n

Khoa N\u1ed9i Ti\u1ebft – Chuy\u1ec3n ho\u00e1 – Di truy\u1ec1n \u0111\u01b0\u1ee3c th\u00e0nh l\u1eadp t\u1eeb n\u0103m 1972, l\u00e0 m\u1ed9t trong nh\u1eefng chuy\u00ean khoa s\u00e2u \u0111\u01b0\u1ee3c th\u00e0nh l\u1eadp s\u1edbm nh\u1ea5t trong chuy\u00ean ng\u00e0nh Nhi khoa Vi\u1ec7t Nam.<\/p>\n

N\u0103m 2021, Trung t\u00e2m N\u1ed9i ti\u1ebft – Chuy\u1ec3n h\u00f3a – Di truy\u1ec1n v\u00e0 Li\u1ec7u ph\u00e1p ph\u00e2n t\u1eed \u0111\u01b0\u1ee3c th\u00e0nh l\u1eadp tr\u00ean c\u01a1 s\u1edf khoa N\u1ed9i ti\u1ebft – Chuy\u1ec3n h\u00f3a – Di truy\u1ec1n v\u1edbi 49 n\u0103m kinh nghi\u1ec7m trong ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb c\u00e1c nh\u00f3m b\u1ec7nh n\u1ed9i ti\u1ebft nhi khoa, s\u00e0ng l\u1ecdc s\u01a1 sinh, nh\u00f3m r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh, nh\u00f3m b\u1ec7nh l\u00fd di truy\u1ec1n, nh\u00f3m b\u1ec7nh l\u00fd hi\u1ebfm v\u00e0 ch\u01b0a c\u00f3 ch\u1ea9n \u0111o\u00e1n.<\/p>\n

V\u1edbi \u0111\u1ed9i ng\u0169 chuy\u00ean gia t\u00e2m huy\u1ebft, gi\u00e0u kinh nghi\u1ec7m c\u00f3 uy t\u00edn tr\u00ean to\u00e0n qu\u1ed1c v\u00e0 qu\u1ed1c t\u1ebf, c\u00e1c k\u1ef9 thu\u1eadt v\u00e0 ph\u01b0\u01a1ng ph\u00e1p ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb ti\u00ean ti\u1ebfn nh\u1ea5t tr\u00ean th\u1ebf gi\u1edbi \u0111\u00e3 \u0111\u01b0\u1ee3c \u1ee9ng d\u1ee5ng th\u01b0\u1eddng quy v\u00e0 \u0111\u1ea1t \u0111\u01b0\u1ee3c k\u1ebft qu\u1ea3 \u0111i\u1ec1u tr\u1ecb t\u1ed1t nh\u1ea5t cho b\u1ec7nh nh\u00e2n.<\/p>\n

– \u0110\u1ecba ch\u1ec9:<\/strong> T\u1ea7ng 11 nh\u00e0 15 t\u1ea7ng B\u1ec7nh vi\u1ec7n Nhi Trung \u01af\u01a1ng. 18\/879 La Th\u00e0nh, Ph\u01b0\u1eddng L\u00e1ng Th\u01b0\u1ee3ng, Qu\u1eadn \u0110\u1ed1ng \u0110a, H\u00e0 N\u1ed9i.<\/p>\n

– S\u0111t: 024 6274 7643<\/a><\/strong><\/p>\n

2. C\u01a1 c\u1ea5u t\u1ed5 ch\u1ee9c:<\/strong><\/h3>\n

Trung t\u00e2m c\u00f3 42 gi\u01b0\u1eddng \u0111i\u1ec1u tr\u1ecb n\u1ed9i tr\u00fa, 10 gi\u01b0\u1eddng \u0111i\u1ec1u tr\u1ecb trong ng\u00e0y, c\u00f3 04 ph\u00f2ng kh\u00e1m chuy\u00ean khoa t\u1ea1i khoa Kh\u00e1m b\u1ec7nh Chuy\u00ean khoa – t\u1ea7ng 1 nh\u00e0 15 t\u1ea7ng, 01 ph\u00f2ng kh\u00e1m t\u1ea1i Trung t\u00e2m Qu\u1ed1c t\u1ebf.<\/p>\n

V\u1ec1 nh\u00e2n s\u1ef1, trung t\u00e2m c\u00f3 20 nh\u00e2n vi\u00ean trong \u0111\u00f3 04 Ti\u1ebfn s\u0129, 02 Th\u1ea1c s\u0129, 02 B\u00e1c s\u0129 n\u1ed9i tr\u00fa; 11 \u0110i\u1ec1u d\u01b0\u1ee1ng.<\/p>\n

II. C\u00c1C B\u1ec6NH L\u00dd TH\u01af\u1edcNG G\u1eb6P<\/strong><\/h2>\n

1. Nh\u00f3m b\u1ec7nh N\u1ed9i ti\u1ebft Nhi khoa<\/strong><\/h3>\n

Ng\u00e0y nay, b\u1ec7nh l\u00fd n\u1ed9i ti\u1ebft \u1edf tr\u1ebb em \u0111ang c\u00f3 xu h\u01b0\u1edbng ng\u00e0y c\u00e0ng gia t\u0103ng tr\u00ean ph\u1ea1m vi to\u00e0n th\u1ebf gi\u1edbi n\u00f3i chung v\u00e0 n\u01b0\u1edbc ta n\u00f3i ri\u00eang, \u0111e do\u1ea1 \u0111\u1ebfn s\u1ee9c kho\u1ebb v\u00e0 s\u1ef1 ph\u00e1t tri\u1ec3n c\u1ee7a tr\u1ebb em n\u1ebfu b\u1ec7nh kh\u00f4ng \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb \u0111\u00fang, k\u1ecbp th\u1eddi.<\/p>\n

H\u01b0\u1edbng t\u1edbi m\u1ee5c ti\u00eau t\u1ea7m so\u00e1t, ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb c\u00e1c c\u00e1c b\u1ec7nh l\u00fd li\u00ean quan \u0111\u1ebfn n\u1ed9i ti\u1ebft \u1edf tr\u1ebb em, Trung t\u00e2m \u0111\u00e3 v\u00e0 \u0111ang cung c\u1ea5p c\u00e1c d\u1ecbch v\u1ee5 cao c\u1ea5p trong kh\u00e1m, ch\u1ea9n \u0111o\u00e1n, t\u01b0 v\u1ea5n v\u00e0 \u0111i\u1ec1u tr\u1ecb chuy\u00ean s\u00e2u v\u1ec1 b\u1ec7nh l\u00fd n\u1ed9i ti\u1ebft \u1edf tr\u1ebb s\u01a1 sinh, tr\u1ebb em v\u00e0 thanh thi\u1ebfu ni\u00ean:<\/p>\n

–<\/strong> <\/span>C\u00e1c b\u1ec7nh l\u00fd tuy\u1ebfn y\u00ean<\/strong>: Th\u1ea5p l\u00f9n do thi\u1ebfu hocmon t\u0103ng tr\u01b0\u1edfng, Suy tuy\u1ebfn y\u00ean to\u00e0n b\u1ed9, \u0110\u00e1i nh\u1ea1t trung \u01b0\u01a1ng, B\u1ec7nh Cushing\u2026<\/p>\n

–<\/strong> <\/span>C\u00e1c b\u1ec7nh l\u00fd tuy\u1ebfn c\u1eadn gi\u00e1p<\/strong>: Suy c\u1eadn gi\u00e1p, C\u01b0\u1eddng c\u1eadn gi\u00e1p<\/p>\n

– C\u00e1c b\u1ec7nh l\u00fd tuy\u1ebfn gi\u00e1p<\/strong>: C\u01b0\u1eddng gi\u00e1p, Suy gi\u00e1p b\u1ea9m sinh, Suy gi\u00e1p th\u1ee9 ph\u00e1t,\u2026<\/p>\n

– C\u00e1c b\u1ec7nh l\u00fd tuy\u1ebfn tu\u1ef5 n\u1ed9i ti\u1ebft<\/strong>: Ti\u1ec3u \u0111\u01b0\u1eddng, H\u1ea1 \u0111\u01b0\u1eddng m\u00e1u c\u01b0\u1eddng insulin,..<\/p>\n

– C\u00e1c b\u1ec7nh l\u00fd tuy\u1ebfn th\u01b0\u1ee3ng th\u1eadn<\/strong>:T\u0103ng s\u1ea3n th\u01b0\u1ee3ng th\u1eadn b\u1ea9m sinh, Suy th\u01b0\u1ee3ng th\u1eadn m\u00e3n t\u00ednh, H\u1ed9i ch\u1ee9ng Cushing,…<\/p>\n

– C\u00e1c b\u1ec7nh l\u00fd tuy\u1ebfn sinh d\u1ee5c<\/strong>: D\u1eady th\u00ec s\u1edbm, D\u1eady th\u00ec mu\u1ed9n, R\u1ed1i lo\u1ea1n ph\u00e1t tri\u1ec3n gi\u1edbi t\u00ednh,\u2026<\/p>\n

– C\u00e1c b\u1ec7nh l\u00fd chuy\u1ec3n ho\u00e1 Calci<\/strong>: H\u1ea1 calci thi\u1ebfu vitamin D, Suy c\u1eadn gi\u00e1p,\u2026<\/p>\n

2. H\u1ec7 th\u1ed1ng S\u00e0ng l\u1ecdc s\u01a1 sinh<\/strong><\/h3>\n

S\u00e0ng l\u1ecdc s\u01a1 sinh \u0111\u01b0\u1ee3c hi\u1ec3u l\u00e0 ph\u00e1t hi\u1ec7n s\u1edbm c\u00e1c b\u1ec7nh khi ch\u01b0a c\u00f3 tri\u1ec7u ch\u1ee9ng \u0111\u1ec3 ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb k\u1ecbp th\u1eddi gi\u1ea3m c\u00e1c di ch\u1ee9ng c\u1ee7a b\u1ec7nh g\u00e2y ra. S\u00e0ng l\u1ecdc s\u01a1 sinh qua gi\u1ecdt m\u00e1u gi\u1ea5y th\u1ea5m tr\u00ean th\u1ebf gi\u1edbi \u0111\u01b0\u1ee3c b\u1eaft \u0111\u1ea7u t\u1eeb nh\u1eefng n\u0103m 1960 (chi ti\u1ebft xem \u1edf \u0111\u01b0\u1eddng link). Trung t\u00e2m N\u1ed9i ti\u1ebft – Chuy\u1ec3n h\u00f3a – Di truy\u1ec1n v\u00e0 Li\u1ec7u ph\u00e1p ph\u00e2n t\u1eed l\u00e0 n\u01a1i \u0111\u1ea7u ti\u00ean t\u1ea1i Vi\u1ec7t Nam th\u1ef1c hi\u1ec7n s\u00e0ng l\u1ecdc s\u01a1 sinh th\u00ed \u0111i\u1ec3m b\u1ec7nh suy gi\u00e1p b\u1ea9m sinh.<\/p>\n

S\u00e0ng l\u1ecdc s\u01a1 sinh l\u00e0 m\u1ed9t h\u1ec7 th\u1ed1ng g\u1ed3m 6 b\u01b0\u1edbc:<\/p>\n

1\/ T\u01b0 v\u1ea5n cho gia \u0111\u00ecnh v\u00e0 c\u1ed9ng \u0111\u1ed3ng v\u1ec1 vi\u1ec7c s\u00e0ng l\u1ecdc s\u01a1 sinh;<\/p>\n

2\/ V\u00e0o s\u1ed1 li\u1ec7u h\u00e0nh ch\u00ednh, l\u1ea5y m\u00e1u v\u00e0 x\u00e9t nghi\u1ec7m;<\/p>\n

3\/ Tr\u1ea3 v\u00e0 t\u01b0 v\u1ea5n x\u00e9t nghi\u1ec7m;<\/p>\n

4\/ L\u00e0m x\u00e9t nghi\u1ec7m kh\u1eb3ng \u0111\u1ecbnh ch\u1ea9n \u0111o\u00e1n;<\/p>\n

5\/ \u0110i\u1ec1u tr\u1ecb v\u00e0 theo d\u00f5i b\u1ec7nh nh\u00e2n;<\/p>\n

6\/ T\u1ed5ng k\u1ebft, \u0111\u00e1nh gi\u00e1 hi\u1ec7u qu\u1ea3 c\u1ee7a s\u00e0ng l\u1ecdc s\u01a1 sinh.<\/p>\n

Hi\u1ec7n nay, h\u1ea7u h\u1ebft c\u00e1c trung t\u00e2m kh\u00e1c ch\u1ec9 \u0111ang th\u1ef1c hi\u1ec7n m\u1ed9t b\u01b0\u1edbc trong h\u1ec7 th\u1ed1ng l\u00e0 l\u1ea5y m\u00e1u v\u00e0 x\u00e9t nghi\u1ec7m. Trung t\u00e2m N\u1ed9i ti\u1ebft-Chuy\u1ec3n h\u00f3a-Di truy\u1ec1n v\u00e0 Li\u1ec7u ph\u00e1p ph\u00e2n t\u1eed hi\u1ec7n l\u00e0 n\u01a1i duy nh\u1ea5t t\u1ea1i Vi\u1ec7t Nam th\u1ef1c hi\u1ec7n \u0111\u01b0\u1ee3c to\u00e0n b\u1ed9 06 b\u01b0\u1edbc c\u1ee7a h\u1ec7 th\u1ed1ng s\u00e0ng l\u1ecdc s\u01a1 sinh.<\/p>\n

C\u00e1c b\u1ec7nh \u0111\u01b0\u1ee3c s\u00e0ng l\u1ecdc s\u01a1 sinh:<\/p>\n

– Suy gi\u00e1p b\u1ea9m sinh<\/p>\n

– T\u0103ng s\u1ea3n th\u01b0\u1ee3ng th\u1eadn b\u1ea9m sinh<\/p>\n

– Thi\u1ebfu men G6PD<\/p>\n

– C\u00e1c r\u1ed1i lo\u1ea1n t\u1ed5ng h\u1ee3p Hemoglobin<\/p>\n

– C\u00e1c b\u1ec7nh suy gi\u1ea3m mi\u1ec5n d\u1ecbch b\u1ea9m sinh<\/p>\n

– B\u1ec7nh Galactosemia<\/p>\n

– C\u00e1c b\u1ec7nh r\u1ed1i lo\u1ea1n d\u1ef1 tr\u1eef th\u1ec3 ti\u00eau b\u00e0o: Pompe, Gaucher, MPS1, Fabry, Niemann Pick, Krabble\u2026<\/p>\n

– 55 b\u1ec7nh r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh Acid amin, Acid h\u1eefu c\u01a1, Acid b\u00e9o (chi ti\u1ebft xem \u1edf \u0111\u01b0\u1eddng link)<\/p>\n

3. Di truy\u1ec1n l\u00e2m s\u00e0ng, nh\u00f3m b\u1ec7nh hi\u1ebfm, r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh, nh\u00f3m b\u1ec7nh ch\u01b0a c\u00f3 ch\u1ea9n \u0111o\u00e1n x\u00e1c \u0111\u1ecbnh<\/strong><\/h3>\n

– Di truy\u1ec1n l\u00e2m s\u00e0ng l\u00e0 chuy\u00ean ng\u00e0nh nghi\u00ean c\u1ee9u, ch\u1ea9n \u0111o\u00e1n, t\u01b0 v\u1ea5n, \u0111i\u1ec1u tr\u1ecb v\u00e0 qu\u1ea3n l\u00fd c\u00e1c nh\u00f3m b\u1ec7nh di truy\u1ec1n. X\u00e9t nghi\u1ec7m di truy\u1ec1n l\u00e0 m\u1ed9t trong c\u00e1c ph\u01b0\u01a1ng ti\u1ec7n gi\u00fap ch\u1ea9n \u0111o\u00e1n nh\u00f3m b\u1ec7nh di truy\u1ec1n. Hi\u1ec7n nay, ch\u1ec9 c\u00f3 B\u1ec7nh vi\u1ec7n Nhi Trung \u01b0\u01a1ng c\u00f3 chuy\u00ean ng\u00e0nh n\u00e0y.<\/p>\n

– B\u1ec7nh hi\u1ebfm l\u00e0 nh\u00f3m b\u1ec7nh c\u00f3 t\u1ec9 l\u1ec7 nh\u1ecf ng\u01b0\u1eddi m\u1eafc trong d\u00e2n s\u1ed1. H\u1ea7u h\u1ebft c\u00e1c b\u1ec7nh hi\u1ebfm (80%) l\u00e0 b\u1ec7nh di truy\u1ec1n n\u00ean bi\u1ec3u hi\u1ec7n b\u1ec7nh su\u1ed1t \u0111\u1eddi m\u1eb7c d\u1ea7u c\u00e1c tri\u1ec7u ch\u1ee9ng c\u00f3 th\u1ec3 kh\u00f4ng xu\u1ea5t hi\u1ec7n ngay. Nhi\u1ec1u b\u1ec7nh hi\u1ebfm xu\u1ea5t hi\u1ec7n ngay giai \u0111o\u1ea1n \u0111\u1ea7u \u0111\u1eddi (50% xu\u1ea5t hi\u1ec7n \u1edf tu\u1ed5i tr\u1ebb em) (xem chi ti\u1ebft trong \u0111\u01b0\u1eddng link).<\/p>\n

– R\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh l\u00e0 nh\u00f3m b\u1ec7nh b\u1ea9m sinh di truy\u1ec1n \u1ea3nh h\u01b0\u1edfng t\u1edbi qu\u00e1 tr\u00ecnh chuy\u1ec3n ho\u00e1 c\u1ee7a c\u01a1 th\u1ec3 v\u1edbi bi\u1ec3u hi\u1ec7n l\u00e2m s\u00e0ng \u0111a d\u1ea1ng nh\u01b0 h\u1ed9i ch\u1ee9ng n\u00e3o c\u1ea5p, suy gan c\u1ea5p, suy \u0111a t\u1ea1ng, suy tim, n\u00f4n chu k\u1ef3, ch\u1eadm ph\u00e1t tri\u1ec3n tinh th\u1ea7n v\u1eadn \u0111\u1ed9ng, t\u1ed5n th\u01b0\u01a1ng c\u00e1c c\u01a1 quan li\u00ean k\u1ebft nh\u01b0 x\u01b0\u01a1ng, kh\u1edbp\u2026, \u1edf m\u1ecdi \u0111\u1ed9 tu\u1ed5i t\u1eeb s\u01a1 sinh \u0111\u1ebfn tr\u1ebb l\u1edbn.<\/p>\n

– Nh\u00f3m b\u1ec7nh m\u1edbi v\u00e0 ch\u01b0a c\u00f3 ch\u1ea9n \u0111o\u00e1n hi\u1ec7n c\u00f2n l\u00e0 th\u00e1ch th\u1ee9c cho c\u00e1c b\u00e1c s\u0129 l\u00e2m s\u00e0ng. Nhu c\u1ea7u c\u1ee7a b\u1ec7nh nh\u00e2n v\u00e0 gia \u0111\u00ecnh ng\u00e0y c\u00e0ng cao trong mong mu\u1ed1n t\u00ecm ra ch\u1ea9n \u0111o\u00e1n cu\u1ed1i c\u00f9ng. Th\u01b0\u1eddng nh\u00f3m ch\u01b0a c\u00f3 ch\u1ea9n \u0111o\u00e1n n\u1eb1m trong nh\u00f3m hi\u1ebfm g\u1eb7p.<\/p>\n

– \u0110\u1ed1i v\u1edbi nh\u00f3m b\u1ec7nh di truy\u1ec1n, r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh, b\u1ec7nh hi\u1ebfm g\u1eb7p, b\u1ec7nh ch\u01b0a c\u00f3 ch\u1ea9n \u0111o\u00e1n th\u00ec vi\u1ec7c h\u1ee3p t\u00e1c v\u00e0 tham gia trong c\u00e1c t\u1ed5 ch\u1ee9c, hi\u1ec7p h\u1ed9i, m\u1ea1ng l\u01b0\u1edbi ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb qu\u1ed1c t\u1ebf s\u1ebd gi\u00fap cho b\u1ec7nh nh\u00e2n c\u00f3 c\u01a1 h\u1ed9i \u0111\u01b0\u1ee3c ti\u1ebfp c\u1eadn c\u00e1c ti\u1ebfn b\u1ed9 khoa h\u1ecdc trong ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb. Trung t\u00e2m N\u1ed9i ti\u1ebft – Chuy\u1ec3n h\u00f3a – Di truy\u1ec1n v\u00e0 Li\u1ec7u ph\u00e1p ph\u00e2n t\u1eed \u0111\u00e3 v\u00e0 \u0111ang h\u1ee3p t\u00e1c v\u1edbi 29 t\u1ed5 ch\u1ee9c, trung t\u00e2m y h\u1ecdc, hi\u1ec7p h\u1ed9i, m\u1ea1ng l\u01b0\u1edbi qu\u1ed1c t\u1ebf kh\u00e1c nhau trong nghi\u00ean c\u1ee9u, ch\u1ea9n \u0111o\u00e1n, \u0111i\u1ec1u tr\u1ecb v\u00e0 \u0111\u00e3 \u0111\u1ea1t \u0111\u01b0\u1ee3c nhi\u1ec1u th\u00e0nh t\u1ef1u c\u0169ng nh\u01b0 k\u1ebft qu\u1ea3 ngo\u00e0i mong \u0111\u1ee3i cho c\u00e1c b\u1ec7nh nh\u00e2n.<\/p>\n

Nh\u00f3m b\u1ec7nh l\u00fd c\u01a1 di truy\u1ec1n:\u00a0 <\/strong><\/p>\n

– Lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchene (DMD)<\/p>\n

– Teo c\u01a1 tu\u1ef7 (SMA)<\/p>\n

– C\u00e1c nh\u00f3m b\u1ec7nh l\u00fd c\u01a1 di truy\u1ec1n hi\u1ebfm g\u1eb7p kh\u00e1c: Teo c\u01a1 tu\u1ef7 v\u00e0 Suy h\u00f4 h\u1ea5p (SMARD), Limb Gridle Dystrophy\u2026<\/p>\n

Nh\u00f3m b\u1ec7nh l\u00fd lo\u1ea1n s\u1ea3n x\u01b0\u01a1ng di truy\u1ec1n: H<\/strong>\u01a1n 400 b\u1ec7nh<\/p>\n

Nh\u00f3m b\u1ec7nh l\u00fd c\u00f2i x\u01b0\u01a1ng di truy\u1ec1n<\/strong><\/p>\n

– C\u00f2i x\u01b0\u01a1ng ph\u1ee5 thu\u1ed9c vitamin D<\/p>\n

– C\u00f2i x\u01b0\u01a1ng gi\u1ea3m phospho<\/p>\n

Nh\u00f3m b\u1ec7nh l\u00fd r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh<\/strong><\/p>\n

– R\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 acid amin: PKU, MSUD, Tyrosinemia type 1\u2026<\/p>\n

– R\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 chu tr\u00ecnh ure: OTC, Citrullinemia type 1, Argininemia\u2026<\/p>\n

– R\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 acid b\u00e9o v\u00e0 th\u1ec3 xeton: CPT1, CACT, CPT2, CUD\u2026<\/p>\n

– R\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 acid h\u1eefu c\u01a1: MMA, PA, IVA, Betaketothiolase<\/p>\n

– R\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 ty th\u1ec3<\/p>\n

– R\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 d\u1ef1 tr\u1eef th\u1ec3 ti\u00eau b\u00e0o: Pompe, Gaucher, MPS, Fabry, Krabble, Niemann Pick\u2026<\/p>\n

– R\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 perisoxome: X-link ALD, b\u1ec7nh Refsum, h\u1ed9i ch\u1ee9ng gi\u1ea3 Zellweger\u2026<\/p>\n

– R\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 t\u0103ng lipid m\u00e1u b\u1ea9m sinh: T\u0103ng cholesterol m\u00e1u c\u00f3 t\u00ednh ch\u1ea5t gia \u0111\u00ecnh, t\u0103ng triglyceride m\u00e1u c\u00f3 t\u00ednh ch\u1ea5t gia \u0111\u00ecnh, t\u0103ng chylomicrone m\u00e1u c\u00f3 t\u00ednh ch\u1ea5t gia \u0111\u00ecnh..<\/p>\n

Nh\u00f3m b\u1ec7nh N\u1ed9i ti\u1ebft Nhi di truy\u1ec1n hi\u1ebfm g\u1eb7p:<\/strong><\/p>\n

– Ti\u1ec3u \u0111\u01b0\u1eddng s\u01a1 sinh<\/p>\n

– Ti\u1ec3u \u0111\u01b0\u1eddng kh\u1edfi ph\u00e1t \u1edf ng\u01b0\u1eddi tr\u1ebb tu\u1ed5i<\/p>\n

– H\u1ea1 \u0111\u01b0\u1eddng huy\u1ebft c\u01b0\u1eddng insulin<\/p>\n

– H\u1ed9i ch\u1ee9ng gi\u1ea3 gi\u1ea3m aldosterone<\/p>\n

– Thi\u1ebfu aldosterone \u0111\u01a1n thu\u1ea7n<\/p>\n

Nh\u00f3m b\u1ec7nh l\u00fd ch\u01b0a c\u00f3 ch\u1ea9n \u0111o\u00e1n:<\/strong><\/p>\n

– Ch\u1eadm ph\u00e1t tri\u1ec3n tinh th\u1ea7n v\u1eadn \u0111\u1ed9ng ch\u01b0a r\u00f5 nguy\u00ean nh\u00e2n<\/p>\n

– Ch\u1eadm l\u1edbn k\u00e8m b\u1ea5t th\u01b0\u1eddng h\u00ecnh th\u1ec3<\/p>\n

– \u0110a d\u1ecb t\u1eadt ch\u01b0a r\u00f5 nguy\u00ean nh\u00e2n<\/p>\n

– Ch\u01b0a x\u00e1c \u0111\u1ecbnh tr\u00ean c\u00e1c b\u1ec7nh nh\u00e2n c\u00f3 ti\u1ec1n s\u1eed gia \u0111\u00ecnh b\u1ea5t th\u01b0\u1eddng\u2026<\/p>\n

III. C\u00c1C D\u1ecaCH V\u1ee4 \u0110ANG TH\u1ef0C HI\u1ec6N <\/strong><\/h2>\n

1. C\u00e1c d\u1ecbch v\u1ee5 kh\u00e1m v\u00e0 t\u01b0 v\u1ea5n<\/strong><\/h3>\n

C\u00e1c d\u1ecbch v\u1ee5 kh\u00e1m, ch\u1ea9n \u0111o\u00e1n, \u0111i\u1ec1u tr\u1ecb c\u00e1c nh\u00f3m b\u1ec7nh N\u1ed9i ti\u1ebft Nhi khoa<\/p>\n

C\u00e1c d\u1ecbch v\u1ee5 t\u01b0 v\u1ea5n cho b\u1ec7nh ti\u1ec3u \u0111\u01b0\u1eddng tr\u1ebb em\/h\u1ea1 \u0111\u01b0\u1eddng huy\u1ebft (chi ti\u1ebft xem \u0111\u01b0\u1eddng link): T\u01b0 v\u1ea5n ch\u0103m s\u00f3c theo d\u00f5i ki\u1ec3m so\u00e1t \u0111\u01b0\u1eddng m\u00e1u t\u1ea1i nh\u00e0; t\u01b0 v\u1ea5n qu\u1ea3n l\u00fd dinh d\u01b0\u1ee1ng; t\u01b0 v\u1ea5n t\u00e2m l\u00fd cho b\u1ec7nh nh\u00e2n v\u00e0 gia \u0111\u00ecnh.<\/p>\n

– C\u00e1c d\u1ecbch v\u1ee5 t\u01b0 v\u1ea5n cho nh\u00f3m b\u1ec7nh r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh: T\u01b0 v\u1ea5n ch\u0103m s\u00f3c v\u00e0 ph\u00e1t hi\u1ec7n c\u01a1n c\u1ea5p t\u1ea1i nh\u00e0; t\u01b0 v\u1ea5n qu\u1ea3n l\u00fd dinh d\u01b0\u1ee1ng<\/p>\n

– C\u00e1c d\u1ecbch v\u1ee5 t\u01b0 v\u1ea5n cho nh\u00f3m b\u1ec7nh N\u1ed9i ti\u1ebft nhi: <\/strong>Suy gi\u00e1p b\u1ea9m sinh, C\u01b0\u1eddng gi\u00e1p, H\u1ea1 Calci\u2026(T\u01b0 v\u1ea5n ch\u0103m s\u00f3c v\u00e0 ph\u00e1t hi\u1ec7n c\u00e1c bi\u1ebfn ch\u1ee9ng)<\/p>\n

C\u00e1c d\u1ecbch v\u1ee5 t\u01b0 v\u1ea5n cho s\u00e0ng l\u1ecdc s\u01a1 sinh:<\/p>\n

– T\u01b0 v\u1ea5n cho b\u1ec7nh nh\u00e2n v\u00e0 nh\u00e2n vi\u00ean y t\u1ebf v\u1ec1 l\u1ee3i \u00edch c\u1ee7a s\u00e0ng l\u1ecdc s\u01a1 sinh<\/p>\n

– T\u01b0 v\u1ea5n khi c\u00f3 k\u1ebft qu\u1ea3 s\u00e0ng l\u1ecdc s\u01a1 sinh<\/p>\n

– D\u1ecbch v\u1ee5 t\u01b0 v\u1ea5n di truy\u1ec1n l\u00e2m s\u00e0ng cho nh\u00f3m b\u1ec7nh di truy\u1ec1n:<\/p>\n

– T\u01b0 v\u1ea5n di truy\u1ec1n v\u1ec1 b\u1ec7nh<\/p>\n

– T\u01b0 v\u1ea5n ti\u1ec1n h\u00f4n nh\u00e2n<\/p>\n

– T\u01b0 v\u1ea5n ti\u1ec1n l\u00e0m t\u1ed5<\/p>\n

– T\u01b0 v\u1ea5n ch\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh<\/p>\n

2. D\u1ecbch v\u1ee5 h\u1ed9i ch\u1ea9n chuy\u00ean gia qu\u1ed1c t\u1ebf <\/strong><\/h3>\n

– H\u1ed9i ch\u1ea9n c\u00e1c tr\u01b0\u1eddng h\u1ee3p kh\u00f3 kh\u0103n trong ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb (29 trung t\u00e2m qu\u1ed1c t\u1ebf c\u00f3 uy t\u00edn \u1edf M\u1ef9, Anh, Ph\u00e1p, \u0110\u1ee9c, \u00dd, \u00dac, Nh\u1eadt B\u1ea3n, H\u00e0n Qu\u1ed1c, \u0110\u00e0i Loan\u2026) (xem chi ti\u1ebft trong \u0111\u01b0\u1eddng link)<\/p>\n

3. C\u00e1c k\u1ef9 thu\u1eadt ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb<\/strong><\/h3>\n

3.1. Nh\u00f3m N\u1ed9i ti\u1ebft Nhi khoa<\/strong><\/p>\n

– C\u00e1c x\u00e9t nghi\u1ec7m kh\u00e1ng th\u1ec3 kh\u00e1ng ti\u1ec3u \u0111\u1ea3o t\u1ee5y: Trung t\u00e2m duy nh\u1ea5t t\u1ea1i Vi\u1ec7t Nam c\u00f3 kh\u1ea3 n\u0103ng l\u00e0m \u0111\u01b0\u1ee3c \u0111\u1ec3 ch\u1ea9n \u0111o\u00e1n x\u00e1c \u0111\u1ecbnh ti\u1ec3u \u0111\u01b0\u1eddng type 1.<\/p>\n

– Test k\u00edch th\u00edch GnRH ch\u1ea9n \u0111o\u00e1n d\u1eady th\u00ec s\u1edbm<\/p>\n

– Test Glucagon, v\u1eadn \u0111\u1ed9ng ch\u1ea9n \u0111o\u00e1n l\u00f9n do thi\u1ebfu hormon t\u0103ng tr\u01b0\u1edfng<\/p>\n

– Test dung n\u1ea1p \u0111\u01b0\u1eddng huy\u1ebft<\/p>\n

– \u0110\u1ecbnh l\u01b0\u1ee3ng HbA1C<\/p>\n

– Microalbumin ni\u1ec7u<\/p>\n

– K\u1ef9 thu\u1eadt cao \u0111\u1ecbnh l\u01b0\u1ee3ng Steroid ni\u1ec7u: Duy nh\u1ea5t \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n t\u1ea1i Vi\u1ec7t Nam ch\u1ea9n \u0111o\u00e1n nh\u00f3m b\u1ec7nh r\u1ed1i lo\u1ea1n t\u1ed5ng h\u1ee3p hormon steroid.<\/p>\n

– \u0110\u1ecbnh l\u01b0\u1ee3ng 17OHP<\/p>\n

– \u0110\u1ecbnh l\u01b0\u1ee3ng c\u00e1c hormon sinh d\u1ee5c v\u00e0 h\u01b0\u1edbng sinh d\u1ee5c: FSH, LH, Estradiol, Testosteron<\/p>\n

– \u0110\u1ecbnh l\u01b0\u1ee3ng c\u00e1c hormon tuy\u1ebfn gi\u00e1p v\u00e0 kh\u00e1ng th\u1ec3 kh\u00e1ng gi\u00e1p: FT4, T4, T3, FT3, TSH, anti TG, anti TPO, TRAb<\/p>\n

– \u0110\u1ecbnh l\u01b0\u1ee3ng hormon li\u00ean quan chuy\u1ec3n ho\u00e1 Calci: PTH, 25OH-vitamin D.<\/p>\n

– \u0110\u1ecbnh l\u01b0\u1ee3ng kh\u00e1ng th\u1ec3 kh\u00e1ng AchR, Musk trong b\u1ec7nh nh\u01b0\u1ee3c c\u01a1<\/p>\n

– K\u1ef9 thu\u1eadt cao gi\u1ea3i tr\u00ecnh t\u1ef1 gen th\u1ebf h\u1ec7 m\u1edbi ch\u1ea9n \u0111o\u00e1n nh\u00f3m ti\u1ec3u \u0111\u01b0\u1eddng s\u01a1 sinh, kh\u1edfi ph\u00e1t \u1edf tr\u1ebb tu\u1ed5i, l\u00f9n v\u00f4 c\u0103n, suy y\u00ean to\u00e0n b\u1ed9, u v\u1ecf th\u01b0\u1ee3ng th\u1eadn, r\u1ed1i lo\u1ea1n ph\u00e1t tri\u1ec3n gi\u1edbi t\u00ednh<\/p>\n

– K\u1ef9 thu\u1eadt ti\u00eam insulin d\u01b0\u1edbi da t\u1ea1i nh\u00e0<\/p>\n

– K\u1ef9 thu\u1eadt ti\u00eam hormon t\u0103ng tr\u01b0\u1edfng t\u1ea1i nh\u00e0<\/p>\n

– K\u1ef9 thu\u1eadt \u0111o \u0111\u01b0\u1eddng m\u00e1u mao m\u1ea1ch t\u1ea1i nh\u00e0<\/p>\n

– K\u1ef9 thu\u1eadt cao theo d\u00f5i \u0111\u01b0\u1eddng m\u00e1u li\u00ean t\u1ee5c<\/p>\n

– Ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb hi\u1ec7n \u0111\u1ea1i B\u01a1m insulin (Insulin Pump)<\/p>\n

3.2. Nh\u00f3m r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh<\/strong><\/p>\n

– K\u1ef9 thu\u1eadt cao \u0111\u1ecbnh l\u01b0\u1ee3ng acid amin, acylcarnitine b\u1eb1ng k\u1ef9 thu\u1eadt MS\/MS<\/p>\n

– K\u1ef9 thu\u1eadt cao \u0111\u1ecbnh l\u01b0\u1ee3ng acid amin b\u1eb1ng k\u1ef9 thu\u1eadt LC\/MS<\/p>\n

– K\u1ef9 thu\u1eadt cao ph\u00e2n t\u00edch acid h\u1eefu c\u01a1 ni\u1ec7u b\u1eb1ng ph\u01b0\u01a1ng ph\u00e1p GC\/MS<\/p>\n

– K\u1ef9 thu\u1eadt cao gi\u1ea3i tr\u00ecnh t\u1ef1 gen th\u1ebf h\u1ec7 m\u1edbi theo nh\u00f3m b\u1ec7nh r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh<\/p>\n

– K\u1ef9 thu\u1eadt cao l\u1ecdc m\u00e1u li\u00ean t\u1ee5c cho nh\u00f3m r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh<\/p>\n

– Ph\u1ee5c h\u1ed3i ch\u1ee9c n\u0103ng h\u00f4 h\u1ea5p, v\u1eadn \u0111\u1ed9ng<\/p>\n

– K\u1ef9 thu\u1eadt cao truy\u1ec1n enzym thay th\u1ebf cho b\u1ec7nh Pompe, MPS<\/p>\n

3.3. Nh\u00f3m b\u1ec7nh di truy\u1ec1n hi\u1ebfm v\u00e0 ch\u01b0a c\u00f3 ch\u1ea9n \u0111o\u00e1n<\/strong><\/p>\n

– K\u1ef9 thu\u1eadt cao gi\u1ea3i tr\u00ecnh t\u1ef1 gen th\u1ebf h\u1ec7 m\u1edbi, gi\u1ea3i tr\u00ecnh t\u1ef1 to\u00e0n b\u1ed9 h\u1ec7 gen th\u1ec3 hi\u1ec7n v\u00e0\/ho\u1eb7c to\u00e0n b\u1ed9 h\u1ec7 gen<\/p>\n

– Ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb m\u1edbi: Gen tr\u1ecb li\u1ec7u cho b\u1ec7nh nh\u00e2n Teo c\u01a1 tu\u1ef7 (SMA)<\/p>\n

V. C\u00c1C TH\u00c0NH T\u1ef0U N\u1ed4I B\u1eacT<\/strong><\/h2>\n

1. Ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb<\/strong><\/h3>\n

Trung t\u00e2m N\u1ed9i ti\u1ebft – Chuy\u1ec3n h\u00f3a – Di truy\u1ec1n v\u00e0 Li\u1ec7u ph\u00e1p ph\u00e2n t\u1eed lu\u00f4n ti\u00ean phong trong \u1ee9ng d\u1ee5ng c\u00e1c ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb m\u1edbi nh\u1ea5t c\u1ee7a th\u1ebf gi\u1edbi:<\/p>\n

N\u01a1i \u0111\u1ea7u ti\u00ean t\u1ea1i Vi\u1ec7t Nam ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb cho nh\u00f3m b\u1ec7nh nh\u00e2n r\u1ed1i lo\u1ea1n d\u1ef1 tr\u1eef th\u1ec3 ti\u00eau b\u00e0o: Ti\u1ebfn h\u00e0nh \u0111i\u1ec1u tr\u1ecb enzyme thay th\u1ebf cho b\u1ec7nh nh\u00e2n m\u1eafc b\u1ec7nh Pompe, Mucopolysaccharidosis.<\/p>\n

N\u01a1i \u0111\u1ea7u ti\u00ean t\u1ea1i Vi\u1ec7t Nam h\u1ee3p t\u00e1c v\u1edbi c\u00e1c chuy\u00ean gia di truy\u1ec1n h\u00e0ng \u0111\u1ea7u th\u1ebf gi\u1edbi t\u1ea1i Hoa K\u1ef3, t\u1ea1i Anh, H\u00e0n Qu\u1ed1c \u1ee9ng d\u1ee5ng c\u00e1c ki\u1ebfn th\u1ee9c c\u1eadp nh\u1eadt nh\u1ea5t, c\u00e1c k\u1ef9 thu\u1eadt y h\u1ecdc hi\u1ec7n \u0111\u1ea1i (gi\u1ea3i tr\u00ecnh t\u1ef1 gen th\u1ebf h\u1ec7 m\u1edbi, gi\u1ea3i tr\u00ecnh t\u1ef1 exon ch\u1ea9n \u0111o\u00e1n, gi\u1ea3i tr\u00ecnh t\u1ef1 h\u1ec7 gen bi\u1ec3u hi\u1ec7n, gi\u1ea3i tr\u00ecnh t\u1ef1 to\u00e0n b\u1ed9 h\u1ec7 gen) \u0111\u1ec3 ch\u1ea9n \u0111o\u00e1n cho nh\u1eefng b\u1ec7nh nh\u00e2n ch\u1eadm ph\u00e1t tri\u1ec3n t\u00e2m th\u1ea7n, v\u1eadn \u0111\u1ed9ng v\u00e0 d\u1ecb t\u1eadt b\u1ea9m sinh ch\u01b0a c\u00f3 ch\u1ea9n \u0111o\u00e1n: H\u00e0ng tr\u0103m b\u1ec7nh nh\u00e2n ph\u1ee9c t\u1ea1p ch\u01b0a c\u00f3 ch\u1ea9n \u0111o\u00e1n \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n x\u00e1c \u0111\u1ecbnh b\u1ec7nh v\u00e0 gia \u0111\u00ecnh \u0111\u01b0\u1ee3c t\u01b0 v\u1ea5n di truy\u1ec1n, t\u01b0 v\u1ea5n ch\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh v\u00e0 ti\u1ec1n l\u00e0m t\u1ed5.<\/p>\n

Trung t\u00e2m \u0111\u1ea7u ti\u00ean v\u00e0 duy nh\u1ea5t trong c\u1ea3 n\u01b0\u1edbc c\u00f3 kh\u1ea3 n\u0103ng s\u00e0ng l\u1ecdc s\u01a1 sinh cho c\u00e1c r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a b\u1ea9m sinh, kh\u1eb3ng \u0111\u1ecbnh ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb ch\u0103m s\u00f3c nh\u00f3m b\u1ec7nh nh\u00e2n r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a b\u1ea9m sinh: H\u00e0ng tr\u0103m b\u1ec7nh nh\u00e2n R\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a b\u1ea9m sinh \u0111\u01b0\u1ee3c c\u1ee9u s\u1ed1ng, h\u00e0ng tr\u0103m gia \u0111\u00ecnh \u0111\u01b0\u1ee3c t\u01b0 v\u1ea5n ch\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh v\u00e0 ch\u1ea9n \u0111o\u00e1n ti\u1ec1n l\u00e0m t\u1ed5 \u0111\u1ec3 sinh con kh\u1ecfe m\u1ea1nh.<\/p>\n

\u1ee8ng d\u1ee5ng gen tr\u1ecb li\u1ec7u \u0111i\u1ec1u tr\u1ecb cho 10 b\u1ec7nh nh\u00e2n teo c\u01a1 t\u1ee7y<\/p>\n

Trung t\u00e2m h\u00e0ng \u0111\u1ea7u, c\u00f3 uy t\u00edn v\u00e0 l\u1edbn nh\u1ea5t c\u1ea3 n\u01b0\u1edbc \u0111i\u1ec1u tr\u1ecb b\u1ec7nh nh\u00e2n m\u1eafc b\u1ec7nh N\u1ed9i ti\u1ebft, chuy\u1ec3n h\u00f3a, di truy\u1ec1n nhi khoa: v\u1edbi h\u01a1n 2.500 b\u1ec7nh nh\u00e2n d\u1eady th\u00ec s\u1edbm trung \u01b0\u01a1ng, 1.000 b\u1ec7nh nh\u00e2n suy tuy\u1ebfn y\u00ean, 2.000 b\u1ec7nh nh\u00e2n uy tuy\u1ebfn gi\u00e1p b\u1ea9m sinh, 1.500 b\u1ec7nh nh\u00e2n t\u0103ng s\u1ea3n th\u01b0\u1ee3ng th\u1eadn b\u1ea9m sinh, 800 b\u1ec7nh nh\u00e2n \u0111\u00e1i th\u00e1o \u0111\u01b0\u1eddng tr\u1ebb em v\u00e0 v\u1ecb th\u00e0nh ni\u00ean, 700 b\u1ec7nh nh\u00e2n r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a b\u1ea9m sinh. V\u1edbi s\u1ed1 l\u01b0\u1ee3ng b\u1ec7nh nh\u00e2n m\u1eafc b\u1ec7nh hi\u1ebfm l\u1edbn nh\u1ea5t trong khu v\u1ef1c v\u00e0 tr\u00ean th\u1ebf gi\u1edbi, \u0111\u1ed9i ng\u0169 nh\u00e2n vi\u00ean c\u1ee7a Khoa \u0111\u00e3 th\u1ef1c s\u1ef1 tr\u1edf th\u00e0nh c\u00e1c chuy\u00ean gia h\u00e0ng \u0111\u1ea7u, gi\u00e0u kinh nghi\u1ec7m v\u1ec1 b\u1ec7nh hi\u1ebfm trong khu v\u1ef1c.<\/p>\n

2. Nghi\u00ean c\u1ee9u khoa h\u1ecdc<\/strong><\/h3>\n

Tham gia c\u00e1c nghi\u00ean c\u1ee9u th\u1eed nghi\u1ec7m l\u00e2m s\u00e0ng \u0111a trung t\u00e2m cho c\u00e1c nh\u00f3m b\u1ec7nh di truy\u1ec1n, b\u1ec7nh hi\u1ebfm<\/strong>:<\/h4>\n

– 10 b\u1ec7nh nh\u00e2n \u0111\u01b0\u1ee3c tham gia th\u1eed nghi\u1ec7m l\u00e2m s\u00e0ng IV \u0111a trung t\u00e2m cho nh\u00f3m b\u1ec7nh nh\u00e2n MPS II trong 5 n\u0103m (2017 \u2013 2022).<\/p>\n

– 3 nh\u00f3m b\u1ec7nh Pompe, Gaucher, MPS I tham gia nghi\u00ean c\u1ee9u \u0111a trung t\u00e2m \u0111\u0103ng k\u00fd c\u01a1 s\u1edf d\u1eef li\u1ec7u cho nh\u00f3m b\u1ec7nh hi\u1ebfm t\u1eeb n\u0103m 2019.<\/p>\n

– \u0110\u01b0\u1ee3c ch\u1ecdn l\u00e0 trung t\u00e2m tham gia nghi\u00ean c\u1ee9u th\u1eed nghi\u1ec7m l\u00e2m s\u00e0ng II\/III cho b\u1ec7nh nh\u00e2n teo c\u01a1 tu\u1ef7 tr\u00ean 2 tu\u1ed5i \u0111\u1ebfn 18 tu\u1ed5i.<\/p>\n

\u0110\u1ea1t nhi\u1ec1u gi\u1ea3i th\u01b0\u1edfng qu\u1ed1c t\u1ebf<\/strong><\/p>\n

– Gi\u1ea3i nh\u1ea5t nghi\u00ean c\u1ee9u vi\u00ean tr\u1ebb t\u1ea1i H\u1ed9i ngh\u1ecb khoa h\u1ecdc y khoa to\u00e0n qu\u1ed1c n\u0103m 1998<\/p>\n

– Gi\u1ea3i th\u01b0\u1edfng ph\u00e1t tri\u1ec3n nghi\u00ean c\u1ee9u Vi\u1ec7t \u2013 \u00dac n\u0103m 2004<\/p>\n

– Gi\u1ea3i th\u01b0\u1edfng \u201cTravel award\u201d t\u1ea1i H\u1ed9i ngh\u1ecb Qu\u1ed1c t\u1ebf v\u1ec1 r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a b\u1ea9m sinh t\u1ea1i M\u1ef9 n\u0103m 2009<\/p>\n

– Gi\u1ea3i th\u01b0\u1edfng nghi\u00ean c\u1ee9u vi\u00ean Ch\u00e2u \u00c1 t\u1ea1i H\u1ed9i ngh\u1ecb R\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a c\u1ee7a Hi\u1ec7p h\u1ed9i R\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a di truy\u1ec1n Ch\u00e2u \u00c1 l\u1ea7n th\u1ee9 10 v\u00e0 H\u1ed9i ngh\u1ecb R\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a th\u01b0\u1eddng ni\u00ean l\u1ea7n th\u1ee9 53 c\u1ee7a Hi\u1ec7p h\u1ed9i R\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a b\u1ea9m sinh Nh\u1eadt B\u1ea3n, t\u1ea1i Chi Ba, Nh\u1eadt B\u1ea3n n\u0103m 2011<\/p>\n

– Gi\u1ea3i th\u01b0\u1edfng nghi\u00ean c\u1ee9u xu\u1ea5t s\u1eafc t\u1ea1i H\u1ed9i ngh\u1ecb R\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a b\u1ea9m sinh Ch\u00e2u \u00c1 l\u1ea7n th\u1ee9 2 v\u00e0 H\u1ed9i ngh\u1ecb R\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a b\u1ea9m sinh \u00c1-\u00c2u t\u1ea1i Seoul, H\u00e0n Qu\u1ed1c n\u0103m 2012<\/p>\n

– Gi\u1ea3i th\u01b0\u1edfng Eto d\u00e0nh cho nghi\u00ean c\u1ee9u vi\u00ean xu\u1ea5t s\u1eafc t\u1ea1i H\u1ed9i ngh\u1ecb R\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a b\u1ea9m sinh Ch\u00e2u \u00c1 l\u1ea7n th\u1ee9 3 t\u1ea1i Nh\u1eadt B\u1ea3n 2013 v\u00e0 2019<\/p>\n

– Gi\u1ea3i th\u01b0\u1edfng \u201cTravel Award\u201d t\u1ea1i H\u1ed9i ngh\u1ecb N\u1ed9i ti\u1ebft c\u1ee7a Hi\u1ec7p h\u1ed9i N\u1ed9i ti\u1ebft Ch\u00e2u \u00c2u, t\u1ea1i Th\u1ee5y \u0110i\u1ec3n n\u0103m 2013<\/p>\n

– Gi\u1ea3i th\u01b0\u1edfng \u201cChen Award\u201d t\u1ea1i h\u1ed9i ngh\u1ecb Di truy\u1ec1n ng\u01b0\u1eddi Ch\u00e2u \u00c1 Th\u00e1i B\u00ecnh D\u01b0\u01a1ng n\u0103m 2015<\/p>\n

V\u00e0 nhi\u1ec1u gi\u1ea3i th\u01b0\u1edfng trong n\u01b0\u1edbc: <\/strong><\/p>\n

– Gi\u1ea3i Nh\u1ea5t cu\u1ed9c thi Nghi\u00ean c\u1ee9u vi\u00ean tr\u1ebb t\u1ea1i H\u1ed9i ngh\u1ecb N\u1ed9i ti\u1ebft to\u00e0n qu\u1ed1c n\u0103m 2014<\/p>\n

– Gi\u1ea3i nh\u1ea5t \u2018Gi\u1ea3i nh\u00e0 khoa h\u1ecdc tr\u1ebb\u2019\u2019 t\u1ea1i H\u1ed9i ngh\u1ecb Khoa h\u1ecdc th\u01b0\u1eddng ni\u00ean H\u1ed9i N\u1ed9i ti\u1ebft \u2013 \u0110\u00e1i th\u00e1o \u0111\u01b0\u1eddng H\u00e0 N\u1ed9i m\u1edf r\u1ed9ng 2018<\/p>\n

– Gi\u1ea3i nh\u00ec v\u00e0 Gi\u1ea3i ba gi\u1ea3i \u201cNh\u00e0 Khoa h\u1ecdc tr\u1ebb\u201d t\u1ea1i H\u1ed9i ngh\u1ecb N\u1ed9i ti\u1ebft, \u0111\u00e1i \u0111\u01b0\u1eddng v\u00e0 chuy\u1ec3n h\u00f3a to\u00e0n qu\u1ed1c 2020<\/p>\n

– C\u00e1c b\u00e0i b\u00e1o \u0111\u0103ng trong c\u00e1c t\u1ea1p ch\u00ed c\u00f3 uy t\u00edn trong n\u01b0\u1edbc v\u00e0 qu\u1ed1c t\u1ebf trong c\u00e1c l\u0129nh v\u1ef1c N\u1ed9i ti\u1ebft \u2013 Chuy\u1ec3n ho\u00e1 v\u00e0 Di truy\u1ec1n<\/p>\n

– C\u00e1c chuy\u00ean gia c\u1ee7a Khoa l\u00e0 b\u00e1o c\u00e1o vi\u00ean \u0111\u01b0\u1ee3c m\u1eddi (Invited Speaker) v\u00e0 ch\u1ee7 t\u1ecda (Chair person) c\u1ee7a nhi\u1ec1u h\u1ed9i ngh\u1ecb qu\u1ed1c t\u1ebf<\/p>\n

– Trung t\u00e2m \u0111\u00e3 ph\u1ed1i h\u1ee3p c\u00f9ng v\u1edbi B\u1ec7nh vi\u1ec7n t\u1ed5 ch\u1ee9c th\u00e0nh c\u00f4ng H\u1ed9i ngh\u1ecb Qu\u1ed1c t\u1ebf: H\u1ed9i ngh\u1ecb Di truy\u1ec1n ng\u01b0\u1eddi Ch\u00e2u \u00c1 Th\u00e1i B\u00ecnh D\u01b0\u01a1ng<\/p>\n

3.<\/strong> Ho\u1ea1t \u0111\u1ed9ng x\u00e3 h\u1ed9i<\/strong><\/h3>\n

– Th\u00e0nh l\u1eadp c\u00e1c C\u00e2u l\u1ea1c b\u1ed9 cho c\u00e1c nh\u00f3m b\u1ec7nh m\u1ea1n t\u00ednh: C\u00e2u l\u1ea1c b\u1ed9 ti\u1ec3u \u0111\u01b0\u1eddng t\u1eeb 1999, C\u00e2u l\u1ea1c b\u1ed9 t\u0103ng s\u1ea3n th\u01b0\u1ee3ng th\u1eadn b\u1ea9m sinh n\u0103m 2000, C\u00e2u l\u1ea1c b\u1ed9 b\u1ec7nh nh\u00e2n Duchene v\u00e0 t\u1ea1o x\u01b0\u01a1ng b\u1ea5t to\u00e0n 2004, C\u00e2u l\u1ea1c b\u1ed9 b\u1ec7nh nh\u00e2n Prader Willi n\u0103m 2014\u2026.<\/p>\n

– Th\u00e0nh l\u1eadp m\u1ea1ng l\u01b0\u1edbi b\u1ec7nh hi\u1ebfm Vi\u1ec7t Nam v\u00e0 nh\u00f3m h\u1ed7 tr\u1ee3 b\u1ec7nh nh\u00e2n b\u1ec7nh hi\u1ebfm n\u0103m 2014.<\/p>\n

– Tham gia m\u1ea1ng l\u01b0\u1edbi ch\u0103m s\u00f3c b\u1ec7nh nh\u00e2n ti\u1ec3u \u0111\u01b0\u1eddng qu\u1ed1c t\u1ebf 2014, 100 b\u1ec7nh nh\u00e2n ti\u1ec3u \u0111\u01b0\u1eddng \u0111\u01b0\u1ee3c d\u1ef1 \u00e1n t\u00e0i tr\u1ee3 m\u00e1y v\u00e0 que th\u1eed \u0111\u01b0\u1eddng m\u00e1u cho tr\u1ecb gi\u00e1 tr\u00ean 1 t\u1ef7 \u0111\u1ed3ng\/n\u0103m.<\/p>\n

– Tr\u00ean 40 b\u1ec7nh nh\u00e2n d\u1ef1 tr\u1eef th\u1ec3 ti\u00eau b\u00e0o Pompe, MPS I, MPS II \u0111\u01b0\u1ee3c t\u00e0i tr\u1ee3 \u0111i\u1ec1u tr\u1ecb enzyme thay th\u1ebf v\u1edbi tr\u1ecb gi\u00e1 200 t\u1ef7 \u0111\u1ed3ng\/n\u0103m<\/p>\n

– 11 b\u1ec7nh nh\u00e2n teo c\u01a1 tu\u1ef7 d\u01b0\u1edbi 2 tu\u1ed5i \u0111\u01b0\u1ee3c t\u00e0i tr\u1ee3 thu\u1ed1c gen tr\u1ecb li\u1ec7u tr\u1ecb gi\u00e1 550 t\u1ef7\/n\u0103m.<\/p>\n

– X\u00e2y d\u1ef1ng v\u00e0 tham gia d\u1ef1 \u00e1n n\u00e2ng cao nh\u1eadn th\u1ee9c v\u00e0 kh\u1ea3 n\u0103ng ch\u1ea9n \u0111o\u00e1n b\u1ec7nh r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh 2013 – 2018. H\u00e0ng tr\u0103m ch\u00e1u \u0111\u01b0\u1ee3c t\u00e0i tr\u1ee3 s\u1ea3n ph\u1ea9m s\u1eefa v\u1edbi tr\u1ecb gi\u00e1 1,5 t\u1ef7\/n\u0103m.<\/p>\n

– Tham gia v\u00e0o d\u1ef1 \u00e1n n\u00e2ng cao nh\u1eadn th\u1ee9c c\u1ee7a c\u1ed9ng \u0111\u1ed3ng v\u1ec1 b\u1ec7nh hi\u1ebfm qua vi\u1ebft s\u00e1ch \u201cH\u00e3y l\u1eafng nghe c\u00e2u truy\u1ec7n c\u1ee7a ch\u00fang t\u00f4i\u201d v\u00e0 \u0111\u1ea1t gi\u1ea3i th\u01b0\u1edfng d\u1ef1 \u00e1n c\u00f3 \u1ea3nh h\u01b0\u1edfng t\u00edch c\u1ef1c t\u1edbi c\u1ed9ng \u0111\u1ed3ng, 10 c\u00e2u chuy\u1ec7n \u0111\u00e3 \u0111\u01b0\u1ee3c chuy\u1ec3n th\u1ec3 th\u00e0nh b\u1ed9 phim ph\u00f3ng s\u1ef1 nhi\u1ec1u k\u1ef3 \u201cNh\u1eefng \u0111\u1ee9a tr\u1ebb h\u1ea1nh ph\u00fac\u201d, \u0111\u1ea1t gi\u1ea3i 5 b\u1ed9 phim ph\u00f3ng s\u1ef1 \u1ea5n t\u01b0\u1ee3ng nh\u1ea5t.<\/p>\n

 <\/p>\n","protected":false},"excerpt":{"rendered":"

I. GI\u1edaI THI\u1ec6U 1. T\u1ed5ng quan Khoa N\u1ed9i Ti\u1ebft – Chuy\u1ec3n ho\u00e1 – Di truy\u1ec1n \u0111\u01b0\u1ee3c th\u00e0nh l\u1eadp t\u1eeb n\u0103m 1972, l\u00e0 m\u1ed9t trong nh\u1eefng chuy\u00ean khoa s\u00e2u \u0111\u01b0\u1ee3c th\u00e0nh l\u1eadp s\u1edbm nh\u1ea5t trong chuy\u00ean ng\u00e0nh Nhi khoa Vi\u1ec7t Nam. N\u0103m 2021, Trung t\u00e2m N\u1ed9i ti\u1ebft – Chuy\u1ec3n h\u00f3a – Di truy\u1ec1n v\u00e0 Li\u1ec7u ph\u00e1p […]<\/p>\n","protected":false},"author":3,"featured_media":22295,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[181],"tags":[],"class_list":["post-22311","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-chuyen-khoa"],"yoast_head":"\nTRUNG T\u00c2M N\u1ed8I TI\u1ebeT - CHUY\u1ec2N H\u00d3A - DI TRUY\u1ec0N V\u00c0 LI\u1ec6U PH\u00c1P PH\u00c2N T\u1eec<\/title>\n<meta name=\"description\" content=\"TT N\u1ed9i ti\u1ebft - Chuy\u1ec3n h\u00f3a - Di truy\u1ec1n v\u00e0 LPPT v\u1edbi 49 n\u0103m kinh nghi\u1ec7m trong ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb c\u00e1c nh\u00f3m b\u1ec7nh n\u1ed9i ti\u1ebft nhi khoa, s\u00e0ng l\u1ecdc s\u01a1 sinh, nh\u00f3m r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh, nh\u00f3m b\u1ec7nh l\u00fd di truy\u1ec1n, nh\u00f3m b\u1ec7nh l\u00fd hi\u1ebfm v\u00e0 ch\u01b0a c\u00f3 ch\u1ea9n \u0111o\u00e1n.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html\" \/>\n<meta property=\"og:locale\" content=\"vi_VN\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"TRUNG T\u00c2M N\u1ed8I TI\u1ebeT - CHUY\u1ec2N H\u00d3A - DI TRUY\u1ec0N V\u00c0 LI\u1ec6U PH\u00c1P PH\u00c2N T\u1eec\" \/>\n<meta property=\"og:description\" content=\"TT N\u1ed9i ti\u1ebft - Chuy\u1ec3n h\u00f3a - Di truy\u1ec1n v\u00e0 LPPT v\u1edbi 49 n\u0103m kinh nghi\u1ec7m trong ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb c\u00e1c nh\u00f3m b\u1ec7nh n\u1ed9i ti\u1ebft nhi khoa, s\u00e0ng l\u1ecdc s\u01a1 sinh, nh\u00f3m r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh, nh\u00f3m b\u1ec7nh l\u00fd di truy\u1ec1n, nh\u00f3m b\u1ec7nh l\u00fd hi\u1ebfm v\u00e0 ch\u01b0a c\u00f3 ch\u1ea9n \u0111o\u00e1n.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html\" \/>\n<meta property=\"og:site_name\" content=\"B\u1ec7nh vi\u1ec7n Nhi Trung \u01b0\u01a1ng\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/bvnhitrunguong\" \/>\n<meta property=\"article:published_time\" content=\"2021-07-29T02:49:57+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2024-09-10T02:43:23+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/e1ship.com\/wp-content\/uploads\/2021\/07\/ANH-DAI-DIEN-150x135-1.png\" \/>\n\t<meta property=\"og:image:width\" content=\"150\" \/>\n\t<meta property=\"og:image:height\" content=\"135\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"quantriad2\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"\u0110\u01b0\u1ee3c vi\u1ebft b\u1edfi\" \/>\n\t<meta name=\"twitter:data1\" content=\"quantriad2\" \/>\n\t<meta name=\"twitter:label2\" content=\"\u01af\u1edbc t\u00ednh th\u1eddi gian \u0111\u1ecdc\" \/>\n\t<meta name=\"twitter:data2\" content=\"18 ph\u00fat\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html#article\",\"isPartOf\":{\"@id\":\"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html\"},\"author\":{\"name\":\"quantriad2\",\"@id\":\"https:\/\/e1ship.com\/#\/schema\/person\/9759468a24d1c8e29487b3ccbc671aa8\"},\"headline\":\"TRUNG T\u00c2M N\u1ed8I TI\u1ebeT – CHUY\u1ec2N H\u00d3A – DI TRUY\u1ec0N V\u00c0 LI\u1ec6U PH\u00c1P PH\u00c2N T\u1eec\",\"datePublished\":\"2021-07-29T02:49:57+00:00\",\"dateModified\":\"2024-09-10T02:43:23+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html\"},\"wordCount\":5144,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\/\/e1ship.com\/#organization\"},\"image\":{\"@id\":\"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html#primaryimage\"},\"thumbnailUrl\":\"https:\/\/e1ship.com\/wp-content\/uploads\/2021\/07\/ANH-DAI-DIEN-150x135-1.png\",\"articleSection\":[\"Chuy\u00ean khoa\"],\"inLanguage\":\"vi\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html\",\"url\":\"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html\",\"name\":\"TRUNG T\u00c2M N\u1ed8I TI\u1ebeT - CHUY\u1ec2N H\u00d3A - DI TRUY\u1ec0N V\u00c0 LI\u1ec6U PH\u00c1P PH\u00c2N T\u1eec\",\"isPartOf\":{\"@id\":\"https:\/\/e1ship.com\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html#primaryimage\"},\"image\":{\"@id\":\"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html#primaryimage\"},\"thumbnailUrl\":\"https:\/\/e1ship.com\/wp-content\/uploads\/2021\/07\/ANH-DAI-DIEN-150x135-1.png\",\"datePublished\":\"2021-07-29T02:49:57+00:00\",\"dateModified\":\"2024-09-10T02:43:23+00:00\",\"description\":\"TT N\u1ed9i ti\u1ebft - Chuy\u1ec3n h\u00f3a - Di truy\u1ec1n v\u00e0 LPPT v\u1edbi 49 n\u0103m kinh nghi\u1ec7m trong ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb c\u00e1c nh\u00f3m b\u1ec7nh n\u1ed9i ti\u1ebft nhi khoa, s\u00e0ng l\u1ecdc s\u01a1 sinh, nh\u00f3m r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh, nh\u00f3m b\u1ec7nh l\u00fd di truy\u1ec1n, nh\u00f3m b\u1ec7nh l\u00fd hi\u1ebfm v\u00e0 ch\u01b0a c\u00f3 ch\u1ea9n \u0111o\u00e1n.\",\"breadcrumb\":{\"@id\":\"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html#breadcrumb\"},\"inLanguage\":\"vi\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"vi\",\"@id\":\"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html#primaryimage\",\"url\":\"https:\/\/e1ship.com\/wp-content\/uploads\/2021\/07\/ANH-DAI-DIEN-150x135-1.png\",\"contentUrl\":\"https:\/\/e1ship.com\/wp-content\/uploads\/2021\/07\/ANH-DAI-DIEN-150x135-1.png\",\"width\":150,\"height\":135},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Trang ch\u1ee7\",\"item\":\"https:\/\/e1ship.com\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Chuy\u00ean khoa\",\"item\":\"https:\/\/e1ship.com\/chuyen-khoa\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"TRUNG T\u00c2M N\u1ed8I TI\u1ebeT – CHUY\u1ec2N H\u00d3A – DI TRUY\u1ec0N V\u00c0 LI\u1ec6U PH\u00c1P PH\u00c2N T\u1eec\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/e1ship.com\/#website\",\"url\":\"https:\/\/e1ship.com\/\",\"name\":\"B\u1ec7nh vi\u1ec7n Nhi Trung \u01b0\u01a1ng\",\"description\":\"Vietnam National Children's Hospital\",\"publisher\":{\"@id\":\"https:\/\/e1ship.com\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\/\/e1ship.com\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"vi\"},{\"@type\":\"Organization\",\"@id\":\"https:\/\/e1ship.com\/#organization\",\"name\":\"B\u1ec7nh vi\u1ec7n Nhi Trung \u01b0\u01a1ng\",\"url\":\"https:\/\/e1ship.com\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"vi\",\"@id\":\"https:\/\/e1ship.com\/#\/schema\/logo\/image\/\",\"url\":\"https:\/\/e1ship.com\/wp-content\/uploads\/2024\/08\/LOGO-NEN-TRANG.png\",\"contentUrl\":\"https:\/\/e1ship.com\/wp-content\/uploads\/2024\/08\/LOGO-NEN-TRANG.png\",\"width\":1600,\"height\":800,\"caption\":\"B\u1ec7nh vi\u1ec7n Nhi Trung \u01b0\u01a1ng\"},\"image\":{\"@id\":\"https:\/\/e1ship.com\/#\/schema\/logo\/image\/\"},\"sameAs\":[\"https:\/\/www.facebook.com\/bvnhitrunguong\"]},{\"@type\":\"Person\",\"@id\":\"https:\/\/e1ship.com\/#\/schema\/person\/9759468a24d1c8e29487b3ccbc671aa8\",\"name\":\"quantriad2\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"vi\",\"@id\":\"https:\/\/e1ship.com\/#\/schema\/person\/image\/\",\"url\":\"https:\/\/secure.gravatar.com\/avatar\/7a02fe5c3422e0befa15890c915295b8?s=96&d=mm&r=g\",\"contentUrl\":\"https:\/\/secure.gravatar.com\/avatar\/7a02fe5c3422e0befa15890c915295b8?s=96&d=mm&r=g\",\"caption\":\"quantriad2\"},\"url\":\"https:\/\/e1ship.com\/author\/quantriad2\"}]}<\/script>\n","yoast_head_json":{"title":"TRUNG T\u00c2M N\u1ed8I TI\u1ebeT - CHUY\u1ec2N H\u00d3A - DI TRUY\u1ec0N V\u00c0 LI\u1ec6U PH\u00c1P PH\u00c2N T\u1eec","description":"TT N\u1ed9i ti\u1ebft - Chuy\u1ec3n h\u00f3a - Di truy\u1ec1n v\u00e0 LPPT v\u1edbi 49 n\u0103m kinh nghi\u1ec7m trong ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb c\u00e1c nh\u00f3m b\u1ec7nh n\u1ed9i ti\u1ebft nhi khoa, s\u00e0ng l\u1ecdc s\u01a1 sinh, nh\u00f3m r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh, nh\u00f3m b\u1ec7nh l\u00fd di truy\u1ec1n, nh\u00f3m b\u1ec7nh l\u00fd hi\u1ebfm v\u00e0 ch\u01b0a c\u00f3 ch\u1ea9n \u0111o\u00e1n.","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html","og_locale":"vi_VN","og_type":"article","og_title":"TRUNG T\u00c2M N\u1ed8I TI\u1ebeT - CHUY\u1ec2N H\u00d3A - DI TRUY\u1ec0N V\u00c0 LI\u1ec6U PH\u00c1P PH\u00c2N T\u1eec","og_description":"TT N\u1ed9i ti\u1ebft - Chuy\u1ec3n h\u00f3a - Di truy\u1ec1n v\u00e0 LPPT v\u1edbi 49 n\u0103m kinh nghi\u1ec7m trong ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb c\u00e1c nh\u00f3m b\u1ec7nh n\u1ed9i ti\u1ebft nhi khoa, s\u00e0ng l\u1ecdc s\u01a1 sinh, nh\u00f3m r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh, nh\u00f3m b\u1ec7nh l\u00fd di truy\u1ec1n, nh\u00f3m b\u1ec7nh l\u00fd hi\u1ebfm v\u00e0 ch\u01b0a c\u00f3 ch\u1ea9n \u0111o\u00e1n.","og_url":"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html","og_site_name":"B\u1ec7nh vi\u1ec7n Nhi Trung \u01b0\u01a1ng","article_publisher":"https:\/\/www.facebook.com\/bvnhitrunguong","article_published_time":"2021-07-29T02:49:57+00:00","article_modified_time":"2024-09-10T02:43:23+00:00","og_image":[{"width":150,"height":135,"url":"https:\/\/e1ship.com\/wp-content\/uploads\/2021\/07\/ANH-DAI-DIEN-150x135-1.png","type":"image\/png"}],"author":"quantriad2","twitter_card":"summary_large_image","twitter_misc":{"\u0110\u01b0\u1ee3c vi\u1ebft b\u1edfi":"quantriad2","\u01af\u1edbc t\u00ednh th\u1eddi gian \u0111\u1ecdc":"18 ph\u00fat"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html#article","isPartOf":{"@id":"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html"},"author":{"name":"quantriad2","@id":"https:\/\/e1ship.com\/#\/schema\/person\/9759468a24d1c8e29487b3ccbc671aa8"},"headline":"TRUNG T\u00c2M N\u1ed8I TI\u1ebeT – CHUY\u1ec2N H\u00d3A – DI TRUY\u1ec0N V\u00c0 LI\u1ec6U PH\u00c1P PH\u00c2N T\u1eec","datePublished":"2021-07-29T02:49:57+00:00","dateModified":"2024-09-10T02:43:23+00:00","mainEntityOfPage":{"@id":"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html"},"wordCount":5144,"commentCount":0,"publisher":{"@id":"https:\/\/e1ship.com\/#organization"},"image":{"@id":"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html#primaryimage"},"thumbnailUrl":"https:\/\/e1ship.com\/wp-content\/uploads\/2021\/07\/ANH-DAI-DIEN-150x135-1.png","articleSection":["Chuy\u00ean khoa"],"inLanguage":"vi","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html#respond"]}]},{"@type":"WebPage","@id":"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html","url":"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html","name":"TRUNG T\u00c2M N\u1ed8I TI\u1ebeT - CHUY\u1ec2N H\u00d3A - DI TRUY\u1ec0N V\u00c0 LI\u1ec6U PH\u00c1P PH\u00c2N T\u1eec","isPartOf":{"@id":"https:\/\/e1ship.com\/#website"},"primaryImageOfPage":{"@id":"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html#primaryimage"},"image":{"@id":"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html#primaryimage"},"thumbnailUrl":"https:\/\/e1ship.com\/wp-content\/uploads\/2021\/07\/ANH-DAI-DIEN-150x135-1.png","datePublished":"2021-07-29T02:49:57+00:00","dateModified":"2024-09-10T02:43:23+00:00","description":"TT N\u1ed9i ti\u1ebft - Chuy\u1ec3n h\u00f3a - Di truy\u1ec1n v\u00e0 LPPT v\u1edbi 49 n\u0103m kinh nghi\u1ec7m trong ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb c\u00e1c nh\u00f3m b\u1ec7nh n\u1ed9i ti\u1ebft nhi khoa, s\u00e0ng l\u1ecdc s\u01a1 sinh, nh\u00f3m r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh, nh\u00f3m b\u1ec7nh l\u00fd di truy\u1ec1n, nh\u00f3m b\u1ec7nh l\u00fd hi\u1ebfm v\u00e0 ch\u01b0a c\u00f3 ch\u1ea9n \u0111o\u00e1n.","breadcrumb":{"@id":"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html#breadcrumb"},"inLanguage":"vi","potentialAction":[{"@type":"ReadAction","target":["https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html"]}]},{"@type":"ImageObject","inLanguage":"vi","@id":"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html#primaryimage","url":"https:\/\/e1ship.com\/wp-content\/uploads\/2021\/07\/ANH-DAI-DIEN-150x135-1.png","contentUrl":"https:\/\/e1ship.com\/wp-content\/uploads\/2021\/07\/ANH-DAI-DIEN-150x135-1.png","width":150,"height":135},{"@type":"BreadcrumbList","@id":"https:\/\/e1ship.com\/trung-tam-noi-tiet-chuyen-hoa-di-truyen-va-lieu-phap-phan-tu.html#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Trang ch\u1ee7","item":"https:\/\/e1ship.com\/"},{"@type":"ListItem","position":2,"name":"Chuy\u00ean khoa","item":"https:\/\/e1ship.com\/chuyen-khoa"},{"@type":"ListItem","position":3,"name":"TRUNG T\u00c2M N\u1ed8I TI\u1ebeT – CHUY\u1ec2N H\u00d3A – DI TRUY\u1ec0N V\u00c0 LI\u1ec6U PH\u00c1P PH\u00c2N T\u1eec"}]},{"@type":"WebSite","@id":"https:\/\/e1ship.com\/#website","url":"https:\/\/e1ship.com\/","name":"B\u1ec7nh vi\u1ec7n Nhi Trung \u01b0\u01a1ng","description":"Vietnam National Children's Hospital","publisher":{"@id":"https:\/\/e1ship.com\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/e1ship.com\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"vi"},{"@type":"Organization","@id":"https:\/\/e1ship.com\/#organization","name":"B\u1ec7nh vi\u1ec7n Nhi Trung \u01b0\u01a1ng","url":"https:\/\/e1ship.com\/","logo":{"@type":"ImageObject","inLanguage":"vi","@id":"https:\/\/e1ship.com\/#\/schema\/logo\/image\/","url":"https:\/\/e1ship.com\/wp-content\/uploads\/2024\/08\/LOGO-NEN-TRANG.png","contentUrl":"https:\/\/e1ship.com\/wp-content\/uploads\/2024\/08\/LOGO-NEN-TRANG.png","width":1600,"height":800,"caption":"B\u1ec7nh vi\u1ec7n Nhi Trung \u01b0\u01a1ng"},"image":{"@id":"https:\/\/e1ship.com\/#\/schema\/logo\/image\/"},"sameAs":["https:\/\/www.facebook.com\/bvnhitrunguong"]},{"@type":"Person","@id":"https:\/\/e1ship.com\/#\/schema\/person\/9759468a24d1c8e29487b3ccbc671aa8","name":"quantriad2","image":{"@type":"ImageObject","inLanguage":"vi","@id":"https:\/\/e1ship.com\/#\/schema\/person\/image\/","url":"https:\/\/secure.gravatar.com\/avatar\/7a02fe5c3422e0befa15890c915295b8?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/7a02fe5c3422e0befa15890c915295b8?s=96&d=mm&r=g","caption":"quantriad2"},"url":"https:\/\/e1ship.com\/author\/quantriad2"}]}},"_links":{"self":[{"href":"https:\/\/e1ship.com\/wp-json\/wp\/v2\/posts\/22311"}],"collection":[{"href":"https:\/\/e1ship.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/e1ship.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/e1ship.com\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/e1ship.com\/wp-json\/wp\/v2\/comments?post=22311"}],"version-history":[{"count":3,"href":"https:\/\/e1ship.com\/wp-json\/wp\/v2\/posts\/22311\/revisions"}],"predecessor-version":[{"id":44434,"href":"https:\/\/e1ship.com\/wp-json\/wp\/v2\/posts\/22311\/revisions\/44434"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/e1ship.com\/wp-json\/wp\/v2\/media\/22295"}],"wp:attachment":[{"href":"https:\/\/e1ship.com\/wp-json\/wp\/v2\/media?parent=22311"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/e1ship.com\/wp-json\/wp\/v2\/categories?post=22311"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/e1ship.com\/wp-json\/wp\/v2\/tags?post=22311"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}