{"id":21533,"date":"2021-07-27T09:44:48","date_gmt":"2021-07-27T02:44:48","guid":{"rendered":"https:\/\/e1ship.com\/?p=21533"},"modified":"2021-09-16T10:33:39","modified_gmt":"2021-09-16T03:33:39","slug":"sang-loc-so-sinh","status":"publish","type":"post","link":"https:\/\/e1ship.com\/sang-loc-so-sinh.html","title":{"rendered":"S\u00c0NG L\u1eccC S\u01a0 SINH"},"content":{"rendered":"

1. L\u1ecbch s\u1eed ph\u00e1t tri\u1ec3n c\u1ee7a s\u00e0ng l\u1ecdc s\u01a1 sinh<\/strong><\/h2>\n

S\u00e0ng l\u1ecdc s\u01a1 sinh c\u00f3 l\u1ecbch s\u1eed t\u1eeb r\u1ea5t l\u00e2u \u0111\u1eddi. T\u1eeb nh\u1eefng n\u0103m 1930, x\u00e9t nghi\u1ec7m t\u00e3 \u0111\u1ec3 ph\u00e1t hi\u1ec7n b\u1ec7nh l\u00fd Phenyl keton ni\u1ec7u l\u00e0 k\u1ef9 thu\u1eadt s\u00e0ng l\u1ecdc s\u01a1 khai \u0111\u01b0\u1ee3c tri\u1ec3n khai. \u0110\u1ebfn nh\u1eefng n\u0103m 1960, k\u1ef9 thu\u1eadt x\u00e9t nghi\u1ec7m m\u00e1u gi\u1ea5y th\u1ea5m \u0111\u00e3 \u0111\u01b0\u1ee3c \u1ee9ng d\u1ee5ng \u0111\u1ec3 ph\u00e1t hi\u1ec7n b\u1ec7nh n\u00e0y. T\u1eeb \u0111\u00f3 \u0111\u1ebfn nay, s\u00e0ng l\u1ecdc s\u01a1 sinh kh\u00f4ng ng\u1eebng m\u1edf r\u1ed9ng v\u1ec1 s\u1ed1 l\u01b0\u1ee3ng c\u00e1c b\u1ec7nh \u0111\u01b0\u1ee3c s\u00e0ng l\u1ecdc nh\u01b0 suy gi\u00e1p tr\u1ea1ng b\u1ea9m sinh, b\u1ec7nh h\u1ed3ng c\u1ea7u h\u00ecnh li\u1ec1m, t\u0103ng s\u1ea3n th\u01b0\u1ee3ng th\u1eadn b\u1ea9m sinh, s\u00e0ng l\u1ecdc c\u00e1c b\u1ec7nh l\u00fd r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh. \u0110\u1ed3ng th\u1eddi k\u1ef9 thu\u1eadt s\u1eed d\u1ee5ng trong s\u00e0ng l\u1ecdc c\u0169ng \u0111\u01b0\u1ee3c n\u00e2ng c\u1ea5p, c\u1ea3i ti\u1ebfn ph\u00e2n t\u00edch DNA t\u1eeb gi\u1ea5y th\u1ea5m, k\u1ef9 thu\u1eadt MS\/MS, nghi\u00ean c\u1ee9u CF\u2026B\u00ean c\u1ea1nh \u0111\u00f3, \u1ee9ng d\u1ee5ng khoa h\u1ecdc d\u1eef li\u1ec7u c\u0169ng \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng trong qu\u1ea3n l\u00fd s\u00e0ng l\u1ecdc b\u1eb1ng h\u1ed3 s\u01a1 ghi ch\u00e9p \u0111i\u1ec7n t\u1eed, t\u0103ng cao t\u00ednh b\u1ea3o m\u1eadt y t\u1ebf.<\/p>\n

T\u1ea1i Vi\u1ec7t Nam, ch\u01b0\u01a1ng tr\u00ecnh s\u00e0ng l\u1ecdc s\u01a1 sinh v\u1edbi d\u1ef1 \u00e1n khu v\u1ef1c \u0111\u01b0\u1ee3c tri\u1ec3n khai t\u1eeb n\u0103m 1998. N\u0103m 2015, s\u00e0ng l\u1ecdc s\u01a1 sinh \u0111\u01b0\u1ee3c tri\u1ec3n khai tr\u00ean 63 t\u1ec9nh th\u00e0nh c\u1ea3 n\u01b0\u1edbc v\u1edbi 3 b\u1ec7nh l\u00e0 suy gi\u00e1p tr\u1ea1ng b\u1ea9m sinh, t\u0103ng s\u1ea3n th\u01b0\u1ee3ng th\u1eadn b\u1ea9m sinh v\u00e0 thi\u1ebfu men G6PD. Nh\u1eefng n\u0103m g\u1ea7n \u0111\u00e2y, s\u00e0ng l\u1ecdc s\u01a1 sinh \u0111\u00e3 m\u1edf r\u1ed9ng th\u00eam c\u00e1c nh\u00f3m b\u1ec7nh nh\u01b0 r\u1ed1i lo\u1ea1n chuy\u1ec3n ho\u00e1 b\u1ea9m sinh, c\u00e1c b\u1ec7nh l\u00fd b\u1ea5t th\u01b0\u1eddng h\u1ed3ng c\u1ea7u, galactosemia\u2026<\/p>\n

2. H\u1ec7 th\u1ed1ng s\u00e0ng l\u1ecdc s\u01a1 sinh<\/strong><\/h2>\n

S\u00e0ng l\u1ecdc s\u01a1 sinh g\u1ed3m 6 ph\u1ea7n, ch\u1ee9 kh\u00f4ng \u0111\u01a1n gi\u1ea3n ch\u1ec9 l\u00e0 x\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc. B\u1ec7nh vi\u1ec7n Nhi Trung \u01af\u01a1ng l\u00e0 b\u1ec7nh vi\u1ec7n duy nh\u1ea5t trong c\u1ea3 n\u01b0\u1edbc kh\u00f4ng ch\u1ec9 d\u1eebng l\u1ea1i \u1edf b\u01b0\u1edbc l\u1ea5y m\u00e1u l\u00e0m x\u00e9t nghi\u1ec7m. Tr\u1ebb sau khi c\u00f3 k\u1ebft qu\u1ea3 s\u00e0ng l\u1ecdc b\u1ea5t th\u01b0\u1eddng, s\u1ebd ti\u1ebfp t\u1ee5c \u0111\u01b0\u1ee3c l\u00e0m x\u00e9t nghi\u1ec7m ch\u1ea9n \u0111o\u00e1n b\u1ec7nh v\u1edbi h\u1ec7 th\u1ed1ng m\u00e1y sinh ho\u00e1 hi\u1ec7n \u0111\u1ea1i; h\u1ec7 th\u1ed1ng ph\u00e2n t\u00edch axit amin v\u00e0 h\u1ec7 th\u1ed1ng GC\/MS ph\u00e2n t\u00edch axit h\u1eefu c\u01a1 ch\u1ec9 c\u00f3 duy nh\u1ea5t t\u1ea1i B\u1ec7nh vi\u1ec7n Nhi Trung \u01b0\u01a1ng; k\u1ebft qu\u1ea3 s\u1ebd \u0111\u01b0\u1ee3c \u0111\u00e1nh gi\u00e1 b\u1edfi c\u00e1c chuy\u00ean gia \u0111\u1ea7u ng\u00e0nh, gi\u00e0u kinh nghi\u1ec7m trong l\u0129nh v\u1ef1c N\u1ed9i ti\u1ebft- Chuy\u1ec3n ho\u00e1- Di truy\u1ec1n c\u0169ng nh\u01b0 c\u00e1c chuy\u00ean khoa s\u00e2u v\u1ec1 huy\u1ebft h\u1ecdc, mi\u1ec5n d\u1ecbch d\u1ecb \u1ee9ng\u2026\u0110\u1ed3ng th\u1eddi, sau khi \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n x\u00e1c \u0111\u1ecbnh, tr\u1ebb s\u1ebd \u0111\u01b0\u1ee3c \u00e1p d\u1ee5ng ph\u00e1c \u0111\u1ed3 \u0111i\u1ec1u tr\u1ecb c\u1eadp nh\u1eadt nh\u1ea5t, to\u00e0n di\u1ec7n nh\u1ea5t bao g\u1ed3m c\u1ea3 ch\u1ebf \u0111\u1ed9 ch\u0103m s\u00f3c, dinh d\u01b0\u1ee1ng v\u00e0 ph\u1ee5c h\u1ed3i ch\u1ee9c n\u0103ng ph\u00f9 h\u1ee3p.<\/p>\n

\"\"<\/p>\n

3. M\u1ee5c ti\u00eau, \u00fd ngh\u0129a c\u1ee7a s\u00e0ng l\u1ecdc s\u01a1 sinh<\/strong><\/h2>\n

C\u00e1c b\u1ec7nh \u0111\u01b0\u1ee3c \u0111\u01b0a v\u00e0o x\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc \u0111\u1ec1u c\u00f3 nh\u1eefng \u0111\u1eb7c \u0111i\u1ec3m chung: bi\u1ec3u hi\u1ec7n tri\u1ec7u ch\u1ee9ng mu\u1ed9n, n\u1ebfu kh\u00f4ng \u0111i\u1ec1u tr\u1ecb k\u1ecbp th\u1eddi c\u00f3 th\u1ec3 d\u1eabn \u0111\u1ebfn khuy\u1ebft t\u1eadt v\u1ec1 tr\u00ed tu\u1ec7 v\u00e0 th\u1ec3 ch\u1ea5t v\u0129nh vi\u1ec5n, th\u1eadm ch\u00ed c\u00f3 th\u1ec3 g\u00e2y t\u1eed vong cho tr\u1ebb.<\/p>\n

M\u1ee5c ti\u00eau c\u1ee7a s\u00e0ng l\u1ecdc s\u01a1 sinh nh\u1eb1m ph\u00e1t hi\u1ec7n b\u1ec7nh tr\u01b0\u1edbc khi c\u00f3 bi\u1ec3u hi\u1ec7n b\u1ec7nh \u0111\u1ec3 \u0111i\u1ec1u tr\u1ecb k\u1ecbp th\u1eddi, gi\u1ea3m t\u1ec9 l\u1ec7 t\u1eed vong v\u00e0 bi\u1ebfn ch\u1ee9ng c\u1ee7a b\u1ec7nh, n\u00e2ng cao ch\u1ea5t l\u01b0\u1ee3ng cu\u1ed9c s\u1ed1ng c\u1ee7a tr\u1ebb.<\/p>\n

4. C\u00e1c b\u1ec7nh \u0111\u01b0\u1ee3c s\u00e0ng l\u1ecdc<\/strong><\/h2>\n

– Suy gi\u00e1p b\u1ea9m sinh (b\u1ec7nh l\u00fd g\u00e2y ch\u1eadm ph\u00e1t tri\u1ec3n tinh th\u1ea7n v\u1eadn \u0111\u1ed9ng)<\/p>\n

– T\u0103ng s\u1ea3n th\u01b0\u1ee3ng th\u1eadn b\u1ea9m sinh (b\u1ec7nh l\u00fd g\u00e2y b\u1ea5t th\u01b0\u1eddng b\u1ed9 ph\u1eadn sinh d\u1ee5c v\u00e0 r\u1ed1i lo\u1ea1n \u0111i\u1ec7n gi\u1ea3i \u0111\u1ed3)<\/p>\n

– Thi\u1ebfu men G6PD (b\u1ec7nh g\u00e2y thi\u1ebfu m\u00e1u tan m\u00e1u)<\/p>\n

– C\u00e1c r\u1ed1i lo\u1ea1n t\u1ed5ng h\u1ee3p Hemoglobin (b\u1ec7nh g\u00e2y thi\u1ebfu m\u00e1u tan m\u00e1u)<\/p>\n

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

– B\u1ec7nh Galactosemia (r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a \u0111\u01b0\u1eddng galatose b\u1ea9m sinh g\u00e2y suy gan c\u1ea5p)<\/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(b\u1ec7nh l\u00fd g\u00e2y t\u1ed5n th\u01b0\u01a1ng nhi\u1ec1u c\u01a1 quan: n\u00e3o, tim, c\u01a1 v\u00e2n, x\u01b0\u01a1ng, kh\u1edbp, gan l\u00e1ch…)<\/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 (b\u1ec7nh l\u00fd g\u00e2y t\u1ed5n th\u01b0\u01a1ng nhi\u1ec1u c\u01a1 quan: n\u00e3o, tim, c\u01a1 v\u00e2n, x\u01b0\u01a1ng, kh\u1edbp, gan l\u00e1ch…)<\/p>\n

5. Quy tr\u00ecnh s\u00e0ng l\u1ecdc s\u01a1 sinh t\u1ea1i B\u1ec7nh vi\u1ec7n Nhi Trung \u01b0\u01a1ng<\/strong><\/h2>\n

– Tr\u1ebb \u0111\u01b0\u1ee3c th\u0103m kh\u00e1m l\u00e2m s\u00e0ng to\u00e0n di\u1ec7n, \u0111\u00e1nh gi\u00e1 ph\u00e1t tri\u1ec3n b\u1edbi c\u00e1c b\u00e1c s\u0129<\/p>\n

– Gi\u1ea3i th\u00edch gia \u0111\u00ecnh v\u1ec1 t\u00ecnh tr\u1ea1ng s\u1ee9c kho\u1ebb hi\u1ec7n t\u1ea1i c\u1ee7a tr\u1ebb v\u00e0 l\u1ee3i \u00edch c\u1ee7a vi\u1ec7c s\u00e0ng l\u1ecdc s\u01a1 sinh.<\/p>\n

– B\u00e1c s\u0129 ch\u1ec9 \u0111\u1ecbnh l\u00e0m x\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc v\u00e0 c\u00e1c x\u00e9t nghi\u1ec7m ph\u00f9 h\u1ee3p v\u1edbi c\u00e1c bi\u1ec3u hi\u1ec7n l\u00e2m s\u00e0ng \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n khi kh\u00e1m.<\/p>\n

– T\u01b0 v\u1ea5n v\u00e0 \u0111\u1ecdc k\u1ebft qu\u1ea3.<\/p>\n

– L\u00e0m x\u00e9t nghi\u1ec7m \u0111\u1ec3 ch\u1ea9n \u0111o\u00e1n x\u00e1c \u0111\u1ecbnh khi x\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc c\u00f3 nguy c\u01a1 cao.<\/p>\n

– \u0110i\u1ec1u tr\u1ecb v\u00e0 theo d\u00f5i b\u1ec7nh nh\u00e2n khi c\u00f3 ch\u1ea9n \u0111o\u00e1n x\u00e1c \u0111\u1ecbnh.<\/p>\n

B\u1ec7nh nh\u00e2n \u0111\u0103ng k\u00fd kh\u00e1m t\u1ea1i<\/strong><\/h3>\n

Ph\u00f2ng kh\u00e1m chuy\u00ean khoa N\u1ed9i ti\u1ebft \u2013 Chuy\u1ec3n ho\u00e1 \u2013 Di truy\u1ec1n: Ph\u00f2ng D128 \u2013 D130, Khoa Kh\u00e1m b\u1ec7nh 2 (T\u1ea7ng 1, nh\u00e0 15 t\u1ea7ng).<\/strong><\/p>\n

– Th\u1eddi gian kh\u00e1m: t\u1eeb 7h \u2013 16h30 (t\u1eeb th\u1ee9 2 \u0111\u1ebfn th\u1ee9 6 h\u00e0ng tu\u1ea7n, tr\u1eeb ng\u00e0y l\u1ec5, T\u1ebft).<\/p>\n

– \u0110i\u1ec7n tho\u1ea1i: 024 6274 7643<\/a><\/strong><\/p>\n

Ph\u00f2ng kh\u00e1m chuy\u00ean khoa N\u1ed9i ti\u1ebft \u2013 Chuy\u1ec3n ho\u00e1 \u2013 Di truy\u1ec1n: Trung t\u00e2m Qu\u1ed1c t\u1ebf.<\/strong><\/p>\n

– Th\u1eddi gian kh\u00e1m: t\u1eeb 7h \u2013 16h30 (t\u1eeb th\u1ee9 2 \u0111\u1ebfn th\u1ee9 6 h\u00e0ng tu\u1ea7n v\u00e0 t\u1eeb 7h \u2013 12h s\u00e1ng th\u1ee9 7 h\u00e0ng tu\u1ea7n; tr\u1eeb ng\u00e0y l\u1ec5, T\u1ebft).<\/p>\n

– \u0110i\u1ec7n tho\u1ea1i: 024 6273 8900<\/a><\/strong><\/p>\n

\n","protected":false},"excerpt":{"rendered":"

1. L\u1ecbch s\u1eed ph\u00e1t tri\u1ec3n c\u1ee7a s\u00e0ng l\u1ecdc s\u01a1 sinh S\u00e0ng l\u1ecdc s\u01a1 sinh c\u00f3 l\u1ecbch s\u1eed t\u1eeb r\u1ea5t l\u00e2u \u0111\u1eddi. T\u1eeb nh\u1eefng n\u0103m 1930, x\u00e9t nghi\u1ec7m t\u00e3 \u0111\u1ec3 ph\u00e1t hi\u1ec7n b\u1ec7nh l\u00fd Phenyl keton ni\u1ec7u l\u00e0 k\u1ef9 thu\u1eadt s\u00e0ng l\u1ecdc s\u01a1 khai \u0111\u01b0\u1ee3c tri\u1ec3n khai. \u0110\u1ebfn nh\u1eefng n\u0103m 1960, k\u1ef9 thu\u1eadt x\u00e9t nghi\u1ec7m m\u00e1u […]<\/p>\n","protected":false},"author":3,"featured_media":21941,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[180],"tags":[],"class_list":["post-21533","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-dich-vu-noi-bat"],"yoast_head":"\nS\u00c0NG L\u1eccC S\u01a0 SINH | B\u1ec7nh vi\u1ec7n Nhi Trung \u01b0\u01a1ng<\/title>\n<meta name=\"description\" content=\"S\u00e0ng l\u1ecdc s\u01a1 sinh g\u1ed3m 6 ph\u1ea7n, ch\u1ee9 kh\u00f4ng \u0111\u01a1n gi\u1ea3n ch\u1ec9 l\u00e0 x\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc. 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