{"id":32645,"date":"2023-05-13T09:23:11","date_gmt":"2023-05-13T02:23:11","guid":{"rendered":"http:\/\/noithathoaphat.in\/ctv\/?p=32645"},"modified":"2023-05-13T09:23:11","modified_gmt":"2023-05-13T02:23:11","slug":"benh-tay-sachs-nguyen-nhan-trieu-chung-va-dieu-tri","status":"publish","type":"post","link":"http:\/\/noithathoaphat.in\/ctv\/index.php\/2023\/05\/13\/benh-tay-sachs-nguyen-nhan-trieu-chung-va-dieu-tri\/","title":{"rendered":"B\u1ec7nh Tay – Sachs: nguy\u00ean nh\u00e2n, tri\u1ec7u ch\u1ee9ng v\u00e0 \u0111i\u1ec1u tr\u1ecb"},"content":{"rendered":"

B\u1ec7nh Tay Sachs (Tay-Sachs disease) l\u00e0 m\u1ed9t b\u1ec7nh l\u01b0u tr\u1eef lysosomal d\u1eabn \u0111\u1ebfn s\u1ef1 t\u00edch t\u1ee5 ganglioside GM2 trong t\u1ebf b\u00e0o th\u1ea7n kinh c\u1ee7a h\u1ec7 th\u1ed1ng th\u1ea7n kinh trung \u01b0\u01a1ng. \u0110i\u1ec1u n\u00e0y d\u1eabn \u0111\u1ebfn co gi\u1eadt, ch\u1eadm v\u1eadn \u0111\u1ed9ng, tr\u01b0\u01a1ng l\u1ef1c c\u01a1 th\u1ea5p v\u00e0 tho\u00e1i h\u00f3a nhanh ch\u00f3ng c\u1ee7a h\u1ec7 th\u1ed1ng th\u1ea7n kinh. Ch\u1ea9n \u0111o\u00e1n \u0111\u1ea1t \u0111\u01b0\u1ee3c th\u00f4ng qua c\u00e1c x\u00e9t nghi\u1ec7m enzyme v\u00e0 gi\u1ea3i tr\u00ecnh t\u1ef1 DNA.<\/strong><\/p>\n

1. Nguy\u00ean nh\u00e2n g\u00e2y b\u1ec7nh Tay- Sachs<\/h2>\n

B\u1ec7nh Tay Sachs, vi\u1ebft t\u1eaft l\u00e0 TSD, l\u00e0 m\u1ed9t r\u1ed1i lo\u1ea1n d\u1ef1 tr\u1eef lysosomal do \u0111\u1ed9t bi\u1ebfn gen tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 15, m\u00e3 h\u00f3a cho m\u1ed9t lo\u1ea1i enzyme lysosomal c\u00f3 t\u00ean l\u00e0 beta hexosaminidase A, vi\u1ebft t\u1eaft l\u00e0 HEXA. Gen HEXA m\u00e3 h\u00f3a c\u1ea5u tr\u00fac c\u1ee7a protein\u00a0HEXA<\/em>,\u00a0m\u1ed9t ti\u1ec3u \u0111\u01a1n v\u1ecb c\u1ee7a enzyme hexosaminidase A. H\u01a1n 80 \u0111\u1ed9t bi\u1ebfn kh\u00e1c nhau c\u1ee7a gen\u00a0HEXA\u00a0<\/em>\u0111\u00e3 \u0111\u01b0\u1ee3c x\u00e1c \u0111\u1ecbnh \u1edf nh\u1eefng ng\u01b0\u1eddi m\u1eafc b\u1ec7nh. K\u1ebf th\u1eeba hai b\u1ea3n sao \u0111\u1ed9t bi\u1ebfn c\u1ee7a gen\u00a0HEXA<\/em>\u00a0(\u0111\u1ed3ng h\u1ee3p t\u1eed) g\u00e2y ra s\u1ef1 thi\u1ebfu h\u1ee5t enzyme hexosaminidase A, c\u1ea7n thi\u1ebft \u0111\u1ec3 ph\u00e1 v\u1ee1 GM2-ganglioside (m\u1ed9t glycosphingolipids) trong c\u00e1c t\u1ebf b\u00e0o c\u1ee7a c\u01a1 th\u1ec3. Th\u1ea5t b\u1ea1i trong vi\u1ec7c ph\u00e1 v\u1ee1 GM2-ganglioside d\u1eabn \u0111\u1ebfn s\u1ef1 t\u00edch t\u1ee5 b\u1ea5t th\u01b0\u1eddng c\u1ee7a n\u00f3 trong c\u00e1c t\u1ebf b\u00e0o n\u00e3o v\u00e0 th\u1ea7n kinh, cu\u1ed1i c\u00f9ng d\u1eabn \u0111\u1ebfn s\u1ef1 suy gi\u1ea3m ti\u1ebfn tri\u1ec3n c\u1ee7a h\u1ec7 th\u1ed1ng th\u1ea7n kinh trung \u01b0\u01a1ng.<\/p>\n

Trong b\u1ec7nh Tay-Sachs \u1edf tr\u1ebb s\u01a1 sinh, thi\u1ebfu ho\u00e0n to\u00e0n hexosaminidase A. Trong b\u1ec7nh Tay-Sachs \u1edf tu\u1ed5i v\u1ecb th\u00e0nh ni\u00ean v\u00e0 kh\u1edfi ph\u00e1t mu\u1ed9n, c\u00f3 r\u1ea5t \u00edt nh\u01b0ng v\u1eabn c\u00f2n m\u1ed9t s\u1ed1 ho\u1ea1t \u0111\u1ed9ng enzyme hexosaminidase A c\u00f2n s\u00f3t l\u1ea1i, \u0111i\u1ec1u n\u00e0y gi\u1ea3i th\u00edch t\u1ea1i sao c\u00e1c r\u1ed1i lo\u1ea1n n\u00e0y c\u00f3 th\u1ec3 \u00edt nghi\u00eam tr\u1ecdng h\u01a1n v\u00e0 ti\u1ebfn tri\u1ec3n v\u1edbi t\u1ed1c \u0111\u1ed9 ch\u1eadm h\u01a1n so v\u1edbi b\u1ec7nh Tay-Sachs \u1edf tr\u1ebb s\u01a1 sinh.<\/p>\n

B\u1ec7nh Tay-Sachs \u0111\u01b0\u1ee3c di truy\u1ec1n nh\u01b0 m\u1ed9t b\u1ec7nh l\u1eb7n NST th\u01b0\u1eddng. R\u1ed1i lo\u1ea1n di truy\u1ec1n l\u1eb7n x\u1ea3y ra khi m\u1ed9t c\u00e1 nh\u00e2n th\u1eeba h\u01b0\u1edfng hai b\u1ea3n sao c\u1ee7a m\u1ed9t gen b\u1ea5t th\u01b0\u1eddng, m\u1ed9t t\u1eeb m\u1ed7i cha m\u1eb9. N\u1ebfu m\u1ed9t c\u00e1 nh\u00e2n th\u1eeba h\u01b0\u1edfng m\u1ed9t b\u1ea3n sao b\u00ecnh th\u01b0\u1eddng c\u1ee7a gen t\u1eeb cha ho\u1eb7c m\u1eb9 v\u00e0 m\u1ed9t b\u1ea3n sao b\u1ea5t th\u01b0\u1eddng (\u0111\u1ed9t bi\u1ebfn) c\u1ee7a gen t\u1eeb cha m\u1eb9 kia, ng\u01b0\u1eddi \u0111\u00f3 s\u1ebd l\u00e0 ng\u01b0\u1eddi mang m\u1ea7m b\u1ec7nh nh\u01b0ng s\u1ebd kh\u00f4ng ph\u00e1t tri\u1ec3n b\u1ec7nh. Nguy c\u01a1 hai cha m\u1eb9 mang m\u1ea7m b\u1ec7nh \u0111\u1ec1u v\u01b0\u1ee3t qua gen b\u1ecb thay \u0111\u1ed5i v\u00e0 c\u00f3 m\u1ed9t \u0111\u1ee9a con b\u1ecb \u1ea3nh h\u01b0\u1edfng l\u00e0 25% v\u1edbi m\u1ed7i l\u1ea7n mang thai. Nguy c\u01a1 sinh con l\u00e0 ng\u01b0\u1eddi mang m\u1ea7m b\u1ec7nh nh\u01b0 cha m\u1eb9 l\u00e0 50% v\u1edbi m\u1ed7i l\u1ea7n mang thai. C\u01a1 h\u1ed9i \u0111\u1ec3 m\u1ed9t \u0111\u1ee9a tr\u1ebb nh\u1eadn \u0111\u01b0\u1ee3c c\u00e1c gen b\u00ecnh th\u01b0\u1eddng t\u1eeb m\u1ed7i cha m\u1eb9 l\u00e0 25%. Nguy c\u01a1 l\u00e0 nh\u01b0 nhau \u0111\u1ed1i v\u1edbi nam v\u00e0 n\u1eef.<\/p>\n

\"nguy\u00ean
Nguy\u00ean nh\u00e2n g\u00e2y b\u1ec7nh Tay Sachs<\/figcaption><\/figure>\n

2. D\u1ecbch t\u1ec5<\/h2>\n

C\u1ea3 nam v\u00e0 n\u1eef \u0111\u1ec1u b\u1ecb \u1ea3nh h\u01b0\u1edfng nh\u01b0 nhau do th\u1eeba h\u01b0\u1edfng 1 hex \u0111\u1ed9t bi\u1ebfn, m\u1ed9t gen l\u1eb7n t\u1eeb cha v\u00e0 m\u1eb9 kh\u00f4ng c\u00f3 tri\u1ec7u ch\u1ee9ng, d\u1ecb h\u1ee3p t\u1eed \u0111\u1ec3 ph\u00e1t tri\u1ec3n t\u00ecnh tr\u1ea1ng \u0111\u1ed3ng h\u1ee3p t\u1eed l\u1eb7n. \u0110i\u1ec1u n\u00e0y c\u0169ng c\u00f3 ngh\u0129a l\u00e0 b\u1ec7nh Tay-Sachs c\u00f3 xu h\u01b0\u1edbng x\u1ea3y ra \u1edf c\u00e1c qu\u1ea7n th\u1ec3 ho\u1eb7c c\u1ed9ng \u0111\u1ed3ng b\u1ecb c\u00f4 l\u1eadp, c\u1eadn huy\u1ebft. \u0110i\u1ec1u n\u00e0y gi\u1ea3i th\u00edch cho s\u1ef1 xu\u1ea5t hi\u1ec7n ch\u1ee7 y\u1ebfu c\u1ee7a b\u1ec7nh \u1edf tr\u1ebb s\u01a1 sinh thu\u1ed9c d\u00f2ng d\u00f5i Do Th\u00e1i Ashkenazi v\u00e0 \u1edf m\u1ed9t s\u1ed1 qu\u1ea7n th\u1ec3 ng\u01b0\u1eddi Ph\u00e1p, Canada, Amish v\u00e0 Cajun. Trong d\u00e2n s\u1ed1 n\u00f3i chung, t\u1ef7 l\u1ec7 ng\u01b0\u1eddi mang m\u1ea7m b\u1ec7nh Tay-Sacks l\u00e0 kho\u1ea3ng 1 tr\u00ean 250-300 ng\u01b0\u1eddi.<\/p>\n

3. D\u1ea5u hi\u1ec7u v\u00e0 tri\u1ec7u ch\u1ee9ng b\u1ec7nh Tay – Sachs<\/h2>\n

3.1 B\u1ec7nh Tay – Sachs \u1edf tr\u1ebb em<\/h3>\n

\u1ede tr\u1ebb s\u01a1 sinh c\u1ee7a, b\u1ec7nh Tay-Sachs<\/strong>\u00a0\u0111\u01b0\u1ee3c \u0111\u1eb7c tr\u01b0ng b\u1edfi s\u1ef1 thi\u1ebfu ho\u00e0n to\u00e0n ho\u1eb7c g\u1ea7n nh\u01b0 ho\u00e0n to\u00e0n ho\u1ea1t \u0111\u1ed9ng c\u1ee7a enzyme hexosaminidase A. R\u1ed1i lo\u1ea1n th\u01b0\u1eddng ti\u1ebfn tri\u1ec3n nhanh ch\u00f3ng, d\u1eabn \u0111\u1ebfn suy gi\u1ea3m \u0111\u00e1ng k\u1ec3 v\u1ec1 nh\u1eadn th\u1ee9c v\u00e0 th\u1ec3 ch\u1ea5t.<\/p>\n

Tr\u1ebb s\u01a1 sinh c\u00f3 th\u1ec3 ho\u00e0n to\u00e0n kh\u00f4ng c\u00f3 bi\u1ec3u hi\u1ec7n khi m\u1edbi sinh. C\u00e1c tri\u1ec7u ch\u1ee9ng ban \u0111\u1ea7u, th\u01b0\u1eddng ph\u00e1t tri\u1ec3n t\u1eeb 3 \u0111\u1ebfn 6 th\u00e1ng, c\u00f3 th\u1ec3 bao g\u1ed3m y\u1ebfu c\u01a1 nh\u1eb9, co gi\u1eadt ho\u1eb7c gi\u1eadt c\u01a1 (gi\u1eadt c\u01a1 tim) v\u00e0 ph\u1ea3n \u1ee9ng gi\u1eadt m\u00ecnh ph\u00f3ng \u0111\u1ea1i, ch\u1eb3ng h\u1ea1n nh\u01b0 khi c\u00f3 ti\u1ebfng \u1ed3n \u0111\u1ed9t ng\u1ed9t ho\u1eb7c b\u1ea5t ng\u1edd. Ph\u1ea3n \u1ee9ng gi\u1eadt m\u00ecnh c\u00f3 th\u1ec3 m\u1ed9t ph\u1ea7n l\u00e0 do t\u0103ng \u0111\u1ed9 nh\u1ea1y c\u1ea3m v\u1edbi \u00e2m thanh (qu\u00e1 m\u1eabn c\u1ea3m \u00e2m thanh).<\/p>\n

T\u1eeb 6 \u0111\u1ebfn 10 th\u00e1ng, tr\u1ebb b\u1ecb \u1ea3nh h\u01b0\u1edfng c\u00f3 th\u1ec3 kh\u00f4ng th\u1ef1c hi\u1ec7n \u0111\u01b0\u1ee3c c\u00e1c k\u1ef9 n\u0103ng v\u1eadn \u0111\u1ed9ng so v\u1edbi \u0111\u00fang l\u1ee9a tu\u1ed5i. Tr\u1ebb c\u00f3 th\u1ec3 kh\u00f4ng c\u00f2n giao ti\u1ebfp b\u1eb1ng m\u1eaft v\u00e0 c\u00f3 th\u1ec3 c\u00f3 chuy\u1ec3n \u0111\u1ed9ng m\u1eaft b\u1ea5t th\u01b0\u1eddng. c\u00f3 th\u1ec3 b\u01a1 ph\u1edd v\u00e0 c\u00e1u k\u1ec9nh. Khi tr\u1ebb l\u1edbn l\u00ean, ch\u00fang c\u00f3 th\u1ec3 t\u0103ng tr\u01b0\u1edfng ch\u1eadm, y\u1ebfu c\u01a1 ti\u1ebfn tri\u1ec3n v\u00e0 gi\u1ea3m tr\u01b0\u01a1ng l\u1ef1c c\u01a1 . Tr\u1ebb b\u1ecb \u1ea3nh h\u01b0\u1edfng c\u0169ng c\u00f3 th\u1ec3 bi\u1ec3u hi\u1ec7n m\u1ea5t th\u1ecb l\u1ef1c d\u1ea7n d\u1ea7n, co th\u1eaft c\u01a1 kh\u00f4ng t\u1ef1 ch\u1ee7 (myoclonus), c\u1eed \u0111\u1ed9ng ch\u1eadm, c\u1ee9ng (co c\u1ee9ng) v\u00e0 m\u1ea5t c\u00e1c k\u1ef9 n\u0103ng c\u00f3 \u0111\u01b0\u1ee3c tr\u01b0\u1edbc \u0111\u00f3 (t\u1ee9c l\u00e0 h\u1ed3i quy t\u00e2m l\u00fd) nh\u01b0 b\u00f2 ho\u1eb7c ng\u1ed3i d\u1eady.<\/p>\n

M\u1ed9t tri\u1ec7u ch\u1ee9ng \u0111\u1eb7c tr\u01b0ng c\u1ee7a b\u1ec7nh Tay-Sachs l\u00e0 s\u1ef1 ph\u00e1t tri\u1ec3n c\u1ee7a m\u1ed9t \u0111i\u1ec3m v\u00e0ng “cherry red”. Ph\u00e1t hi\u1ec7n nh\u00e3n khoa n\u00e0y xu\u1ea5t hi\u1ec7n t\u1eeb s\u1ef1 t\u00edch t\u1ee5 b\u1ea5t th\u01b0\u1eddng c\u1ee7a v\u1eadt li\u1ec7u kh\u00f4ng ti\u00eau h\u00f3a nh\u1ea1t trong \u0111i\u1ec3m v\u00e0ng, tr\u00e1i ng\u01b0\u1ee3c v\u1edbi n\u1ec1n trong su\u1ed1t \u1ed5 m\u1ecfng, \u0111\u1ec3 l\u1ed9 h\u1ec7 th\u1ed1ng m\u1ea1ch m\u00e1u m\u00e0ng \u0111\u1ec7m phong ph\u00fa b\u00ecnh th\u01b0\u1eddng. Ph\u00e1t hi\u1ec7n \u0111\u1eb7c tr\u01b0ng n\u00e0y x\u1ea3y ra l\u00e0 kho\u1ea3ng 90% c\u00e1 nh\u00e2n m\u1eafc b\u1ec7nh Tay-Sachs \u1edf tr\u1ebb em.<\/p>\n

Khi tr\u1ebb s\u01a1 sinh b\u1ecb \u1ea3nh h\u01b0\u1edfng l\u1edbn l\u00ean, c\u00e1c bi\u1ebfn ch\u1ee9ng nghi\u00eam tr\u1ecdng h\u01a1n c\u00f3 th\u1ec3 ph\u00e1t tri\u1ec3n bao g\u1ed3m co gi\u1eadt, kh\u00f3 nu\u1ed1t, m\u1ea5t th\u1ecb l\u1ef1c, t\u00ea li\u1ec7t v\u00e0 m\u1ea5t th\u00ednh l\u1ef1c ti\u1ebfn tri\u1ec3n. Thi\u1ebfu h\u1ee5t nh\u1eadn th\u1ee9c b\u1ed5 sung c\u00f3 th\u1ec3 bao g\u1ed3m nh\u1ea7m l\u1eabn, m\u1ea5t ph\u01b0\u01a1ng h\u01b0\u1edbng v\u00e0 \/ ho\u1eb7c suy gi\u1ea3m kh\u1ea3 n\u0103ng tr\u00ed tu\u1ec7. Cu\u1ed1i c\u00f9ng, tr\u1ebb s\u01a1 sinh c\u00f3 th\u1ec3 tr\u1edf n\u00ean kh\u00f4ng ph\u1ea3n \u1ee9ng v\u1edbi m\u00f4i tr\u01b0\u1eddng v\u00e0 m\u00f4i tr\u01b0\u1eddng xung quanh. T\u1eeb ba \u0111\u1ebfn n\u0103m tu\u1ed5i, c\u00e1c bi\u1ebfn ch\u1ee9ng \u0111e d\u1ecda t\u00ednh m\u1ea1ng b\u1eaft \u0111\u1ea7u x\u1ea3y ra nh\u01b0 vi\u00eam ph\u1ed5i h\u00edt d\u1eabn \u0111\u1ebfn suy h\u00f4 h\u1ea5p.<\/p>\n

\"h\u00ecnh
H\u00ecnh \u1ea3nh \u0111i\u1ec3m v\u00e0ng cherry red \u1edf tr\u1ebb trong b\u1ec7nh tay sachs<\/figcaption><\/figure>\n

3.2 B\u1ec7nh Tay – Sachs \u1edf tr\u1ebb v\u1ecb th\u00e0nh ni\u00ean<\/h3>\n

Nh\u1eefng tr\u1ebb ph\u00e1t b\u1ec7nh trong \u0111\u1ed9 tu\u1ed5i n\u00e0y \u0111\u01b0\u1ee3c xem l\u00e0 giai \u0111o\u1ea1n b\u00e1n c\u1ea5p. S\u1ef1 kh\u1edfi ph\u00e1t c\u1ee7a b\u1ec7nh Tay-Sachs v\u1ecb th\u00e0nh ni\u00ean c\u00f3 th\u1ec3 \u1edf b\u1ea5t c\u1ee9 \u0111\u00e2u t\u1eeb 2 \u0111\u1ebfn 10 tu\u1ed5i. M\u1ed9t trong nh\u1eefng d\u1ea5u hi\u1ec7u \u0111\u1ea7u ti\u00ean th\u01b0\u1eddng l\u00e0 v\u1ee5ng v\u1ec1 v\u00e0 kh\u00f4ng ph\u1ed1i h\u1ee3p. \u0110i\u1ec1u n\u00e0y x\u1ea3y ra b\u1edfi v\u00ec tr\u1ebb em b\u1ecb \u1ea3nh h\u01b0\u1edfng c\u00f3 v\u1ea5n \u0111\u1ec1 ki\u1ec3m so\u00e1t chuy\u1ec3n \u0111\u1ed9ng c\u1ee7a c\u01a1 th\u1ec3 (m\u1ea5t \u0111i\u1ec1u h\u00f2a). Tr\u1ebb em c\u00f3 xu h\u01b0\u1edbng b\u1ecb m\u1ea5t d\u1ea7n kh\u1ea3 n\u0103ng n\u00f3i, k\u1ef9 n\u0103ng s\u1ed1ng v\u00e0 kh\u1ea3 n\u0103ng tr\u00ed tu\u1ec7. C\u00e1c c\u00e1 nh\u00e2n b\u1ecb \u1ea3nh h\u01b0\u1edfng c\u00f3 th\u1ec3 ho\u1eb7c kh\u00f4ng th\u1ec3 ph\u00e1t tri\u1ec3n m\u1ed9t \u0111\u1ed1m \u0111\u1ecf anh \u0111\u00e0o trong m\u1eaft. Tho\u00e1i h\u00f3a c\u00e1c d\u00e2y th\u1ea7n kinh th\u1ecb gi\u00e1c (teo th\u1ecb gi\u00e1c) c\u00f3 th\u1ec3 x\u1ea3y ra. M\u1ed9t s\u1ed1 tr\u1ebb c\u00f3 th\u1ec3 b\u1ecb vi\u00eam v\u00f5ng m\u1ea1c s\u1eafc t\u1ed1, m\u1ea5t d\u1ea7n v\u00e0 tho\u00e1i h\u00f3a c\u00e1c t\u1ebf b\u00e0o trong v\u00f5ng m\u1ea1c n\u01a1i h\u00ecnh d\u1ea1ng v\u00e0 m\u00e0u s\u1eafc \u0111\u01b0\u1ee3c m\u00e3 h\u00f3a \u0111\u1ea7u ti\u00ean. Tr\u1ebb em b\u1ecb \u1ea3nh h\u01b0\u1edfng tr\u1edf n\u00ean \u00edt ph\u1ea3n \u1ee9ng v\u1edbi m\u00f4i tr\u01b0\u1eddng v\u00e0 m\u00f4i tr\u01b0\u1eddng xung quanh. C\u00e1c bi\u1ebfn ch\u1ee9ng \u0111e d\u1ecda t\u00ednh m\u1ea1ng th\u01b0\u1eddng x\u1ea3y ra kho\u1ea3ng 15 tu\u1ed5i.<\/p>\n

3.3 B\u1ec7nh Tay – Sachs kh\u1edfi ph\u00e1t mu\u1ed9n<\/h3>\n

Bi\u1ec3u hi\u1ec7n v\u00e0 c\u00e1c tri\u1ec7u ch\u1ee9ng li\u00ean quan \u0111\u1ebfn b\u1ec7nh\u00a0Tay-Sachs kh\u1edfi ph\u00e1t mu\u1ed9n<\/strong>\u00a0r\u1ea5t kh\u00e1c nhau. S\u1ef1 kh\u1edfi ph\u00e1t c\u1ee7a b\u1ec7nh c\u00f3 th\u1ec3 thay \u0111\u1ed5i t\u1eeb cu\u1ed1i tu\u1ed5i thi\u1ebfu ni\u00ean \u0111\u1ebfn b\u1ea5t c\u1ee9 l\u00fac n\u00e0o \u1edf tu\u1ed5i tr\u01b0\u1edfng th\u00e0nh. S\u1ef1 thay \u0111\u1ed5i n\u00e0y c\u00f3 th\u1ec3 x\u1ea3y ra ngay c\u1ea3 trong c\u00e1c th\u00e0nh vi\u00ean b\u1ecb \u1ea3nh h\u01b0\u1edfng c\u1ee7a c\u00f9ng m\u1ed9t gia \u0111\u00ecnh. V\u00ed d\u1ee5, trong m\u1ed9t gia \u0111\u00ecnh nh\u1ea5t \u0111\u1ecbnh, m\u1ed9t ng\u01b0\u1eddi c\u00f3 th\u1ec3 c\u00f3 c\u00e1c tri\u1ec7u ch\u1ee9ng \u1edf \u0111\u1ed9 tu\u1ed5i 20, trong khi m\u1ed9t ng\u01b0\u1eddi kh\u00e1c \u0111\u1ebfn \u0111\u1ed9 tu\u1ed5i 60 ho\u1eb7c 70 v\u1edbi c\u00e1c tri\u1ec7u ch\u1ee9ng nh\u1ecf t\u01b0\u01a1ng \u0111\u1ed1i nh\u1eb9 h\u01a1n. R\u1ed1i lo\u1ea1n ti\u1ebfn tri\u1ec3n ch\u1eadm h\u01a1n nhi\u1ec1u so v\u1edbi c\u00e1c d\u1ea1ng tr\u1ebb s\u01a1 sinh ho\u1eb7c v\u1ecb th\u00e0nh ni\u00ean c\u1ee7a b\u1ec7nh.<\/p>\n

C\u00e1c tri\u1ec7u ch\u1ee9ng ban \u0111\u1ea7u li\u00ean quan \u0111\u1ebfn b\u1ec7nh Tay-Sachs kh\u1edfi ph\u00e1t mu\u1ed9n c\u00f3 th\u1ec3 bao g\u1ed3m y\u1ebfu c\u01a1 ti\u1ebfn tri\u1ec3n v\u00e0 g\u1ea7y c\u00f2i (teo th\u1ea7n kinh), kh\u00f4ng ph\u1ed1i h\u1ee3p v\u00e0 v\u1ee5ng v\u1ec1 do r\u1ed1i lo\u1ea1n ch\u1ee9c n\u0103ng ti\u1ec3u n\u00e3o (m\u1ea5t \u0111i\u1ec1u h\u00f2a) ho\u1eb7c bi\u1ec3u hi\u1ec7n t\u00e2m th\u1ea7n c\u1ea5p t\u00ednh. Khi nh\u1eefng ng\u01b0\u1eddi b\u1ecb b\u1ec7nh l\u1edbn th\u00eam v\u00e0i tu\u1ed5i, co gi\u1eadt c\u01a1, chu\u1ed9t r\u00fat, y\u1ebfu c\u01a1 ti\u1ebfn tri\u1ec3n \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn c\u01a1 t\u1ee9 \u0111\u1ea7u v\u00e0 c\u01a1 g\u1eadp h\u00f4ng, v\u00e0 sau \u0111\u00f3 l\u00e0 c\u01a1 tam \u0111\u1ea7u. B\u1ec7nh nh\u00e2n c\u1ea7n kh\u00f3a \u0111\u1ea7u g\u1ed1i c\u1ee7a h\u1ecd \u1edf m\u1ee9c du\u1ed7i h\u1ebft m\u1ee9c \u0111\u1ec3 c\u00f3 th\u1ec3 \u0111\u1ee9ng v\u00e0 h\u1ed7 tr\u1ee3 tr\u1ecdng l\u01b0\u1ee3ng c\u1ee7a h\u1ecd. N\u1ebfu kh\u00f4ng l\u00e0m nh\u01b0 v\u1eady d\u1eabn \u0111\u1ebfn t\u00e9 ng\u00e3 v\u00e0 cu\u1ed1i c\u00f9ng c\u1ea7n \u0111\u1ebfn m\u1ed9t thi\u1ebft b\u1ecb \u0111\u1ec3 h\u1ed7 tr\u1ee3 \u0111i b\u1ed9. B\u1ec7nh nh\u00e2n c\u00f3 th\u1ec3 bi\u1ec3u hi\u1ec7n run v\u00e0 n\u00f3i ch\u1eadm ti\u1ebfn tri\u1ec3n (r\u1ed1i lo\u1ea1n v\u1eadn ng\u00f4n). Kh\u00f3 nu\u1ed1t c\u00f3 th\u1ec3 xu\u1ea5t hi\u1ec7n mu\u1ed9n trong b\u1ec7nh. M\u1ed9t s\u1ed1 c\u00e1 nh\u00e2n b\u1ecb \u1ea3nh h\u01b0\u1edfng tr\u1ea3i qua c\u00e1c bi\u1ec3u hi\u1ec7n t\u00e2m th\u1ea7n c\u1ea5p t\u00ednh (h\u01b0ng c\u1ea3m, tr\u1ea7m c\u1ea3m<\/a> c\u1ea5p t\u00ednh ho\u1eb7c r\u1ed1i lo\u1ea1n t\u00e2m th\u1ea7n) c\u00f3 th\u1ec3 c\u1ea7n ch\u0103m s\u00f3c t\u00e2m th\u1ea7n kh\u1ea9n c\u1ea5p. Theo th\u1eddi gian, nh\u1eefng kh\u00f3 kh\u0103n v\u1ec1 nh\u1eadn th\u1ee9c bao g\u1ed3m r\u1ed1i lo\u1ea1n ch\u1ee9c n\u0103ng \u0111i\u1ec1u h\u00e0nh v\u00e0 m\u1ed9t s\u1ed1 kh\u00f3 kh\u0103n v\u1ec1 tr\u00ed nh\u1edb c\u00f3 th\u1ec3 xu\u1ea5t hi\u1ec7n.<\/p>\n

4. Ch\u1ea9n \u0111o\u00e1n b\u1ec7nh<\/h2>\n

Ch\u1ea9n \u0111o\u00e1n b\u1ec7nh Tay-Sachs c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c x\u00e1c nh\u1eadn b\u1eb1ng \u0111\u00e1nh gi\u00e1 l\u00e2m s\u00e0ng k\u1ef9 l\u01b0\u1ee1ng v\u00e0 c\u00e1c x\u00e9t nghi\u1ec7m chuy\u00ean bi\u1ec7t nh\u01b0 x\u00e9t nghi\u1ec7m m\u00e1u \u0111o m\u1ee9c \u0111\u1ed9 ho\u1ea1t \u0111\u1ed9ng enzyme c\u1ee7a hexosaminidase A. X\u00e9t nghi\u1ec7m di truy\u1ec1n ph\u00e2n t\u1eed cho c\u00e1c \u0111\u1ed9t bi\u1ebfn trong gen\u00a0HEXA\u00a0<\/em>c\u00f3 th\u1ec3 x\u00e1c nh\u1eadn ch\u1ea9n \u0111o\u00e1n b\u1ec7nh Tay-Sachs. V\u1edbi s\u1ef1 ra \u0111\u1eddi c\u1ee7a c\u00e1c b\u1ea3ng gen v\u00e0 gi\u1ea3i tr\u00ecnh t\u1ef1 to\u00e0n b\u1ed9 b\u1ed9 gen c\u00f3 s\u1eb5n r\u1ed9ng r\u00e3i h\u01a1n, nhi\u1ec1u b\u1ec7nh nh\u00e2n ban \u0111\u1ea7u \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n b\u1eb1ng x\u00e9t nghi\u1ec7m ph\u00e2n t\u1eed sau \u0111\u00f3 l\u00e0 x\u00e1c nh\u1eadn enzyme.<\/p>\n

C\u00f3 th\u1ec3 ch\u1ea9n \u0111o\u00e1n b\u1ec7nh Tay-Sachs khi b\u1ecb nghi ng\u1edd tr\u01b0\u1edbc khi sinh d\u1ef1a tr\u00ean c\u00e1c x\u00e9t nghi\u1ec7m chuy\u00ean khoa, ch\u1eb3ng h\u1ea1n nh\u01b0 ch\u1ecdc \u1ed1i v\u00e0 l\u1ea5y m\u1eabu nhung mao m\u00e0ng \u0111\u1ec7m (CVS). Trong qu\u00e1 tr\u00ecnh ch\u1ecdc \u1ed1i, m\u1ed9t m\u1eabu ch\u1ea5t l\u1ecfng bao quanh thai nhi \u0111ang ph\u00e1t tri\u1ec3n \u0111\u01b0\u1ee3c lo\u1ea1i b\u1ecf, trong khi CVS li\u00ean quan \u0111\u1ebfn vi\u1ec7c lo\u1ea1i b\u1ecf c\u00e1c m\u1eabu m\u00f4 t\u1eeb m\u1ed9t ph\u1ea7n c\u1ee7a nhau thai. Nh\u1eefng m\u1eabu n\u00e0y \u0111\u01b0\u1ee3c nghi\u00ean c\u1ee9u \u0111\u1ec3 x\u00e1c \u0111\u1ecbnh ho\u1ea1t \u0111\u1ed9ng c\u1ee7a hexosaminidase A. S\u1ef1 v\u1eafng m\u1eb7t ho\u1eb7c gi\u1ea3m \u0111\u00e1ng k\u1ec3 ho\u1ea1t \u0111\u1ed9ng g\u1ee3i \u00fd ch\u1ea9n \u0111o\u00e1n. Ch\u1ea9n \u0111o\u00e1n tr\u01b0\u1edbc sinh c\u0169ng c\u00f3 th\u1ec3 th\u00f4ng qua x\u00e9t nghi\u1ec7m di truy\u1ec1n ph\u00e2n t\u1eed c\u00e1c m\u1eabu m\u00f4 thu \u0111\u01b0\u1ee3c th\u00f4ng qua CVS ho\u1eb7c ch\u1ecdc \u1ed1i, \u0111\u1eb7c bi\u1ec7t n\u1ebfu (c\u00e1c) \u0111\u1ed9t bi\u1ebfn g\u00e2y b\u1ec7nh trong gen HEXA<\/em>\u00a0\u0111\u01b0\u1ee3c bi\u1ebft \u0111\u1ebfn trong gia \u0111\u00ecnh.<\/p>\n

X\u00e9t nghi\u1ec7m ng\u01b0\u1eddi mang m\u1ea7m b\u1ec7nh Tay-Sachs c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n t\u1eeb m\u1eabu m\u00e1u v\u00e0 x\u00e1c \u0111\u1ecbnh xem m\u1ed9t c\u00e1 nh\u00e2n c\u00f3 mang m\u1ed9t b\u1ea3n sao g\u00e2y b\u1ec7nh c\u1ee7a gen\u00a0HEXA\u00a0<\/em>hay kh\u00f4ng. Ng\u01b0\u1eddi th\u00e2n c\u1ee7a nh\u1eefng ng\u01b0\u1eddi m\u1eafc b\u1ec7nh Tay-Sachs c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c ki\u1ec3m tra \u0111\u1ec3 x\u00e1c \u0111\u1ecbnh xem h\u1ecd c\u00f3 ph\u1ea3i l\u00e0 ng\u01b0\u1eddi mang m\u1ea7m b\u1ec7nh hay kh\u00f4ng. C\u00e1c c\u1eb7p v\u1ee3 ch\u1ed3ng \u0111ang c\u00f3 k\u1ebf ho\u1ea1ch sinh con v\u00e0 c\u00f3 b\u1ea5t k\u1ef3 t\u1ed5 ti\u00ean Do Th\u00e1i n\u00e0o (kh\u00f4ng ch\u1ec9 Ashkenazi) \u0111\u01b0\u1ee3c khuy\u1ebfn kh\u00edch tr\u1ea3i qua s\u00e0ng l\u1ecdc ng\u01b0\u1eddi mang m\u1ea7m b\u1ec7nh tr\u01b0\u1edbc khi ti\u1ebfn h\u00e0nh mang thai.<\/p>\n

\u0110\u1ed1i v\u1edbi c\u00e1c c\u1eb7p v\u1ee3 ch\u1ed3ng th\u1ea5y r\u1eb1ng h\u1ecd l\u00e0 ng\u01b0\u1eddi mang m\u1ea7m b\u1ec7nh, c\u00f3 m\u1ed9t s\u1ed1 l\u1ef1a ch\u1ecdn c\u00f3 s\u1eb5n \u0111\u1ec3 b\u1eaft \u0111\u1ea7u m\u1ed9t gia \u0111\u00ecnh. C\u00e1c l\u1ef1a ch\u1ecdn n\u00e0y bao g\u1ed3m c\u00e1c c\u00f4ng ngh\u1ec7 h\u1ed7 tr\u1ee3 sinh s\u1ea3n (ART) nh\u01b0 th\u1ee5 tinh trong \u1ed1ng nghi\u1ec7m (IVF) v\u00e0 \u00e1p d\u1ee5ng. C\u00e1c c\u1eb7p v\u1ee3 ch\u1ed3ng \u0111\u01b0\u1ee3c khuy\u1ebfn kh\u00edch tham kh\u1ea3o \u00fd ki\u1ebfn c\u1ee7a m\u1ed9t c\u1ed1 v\u1ea5n di truy\u1ec1n \u0111\u1ec3 th\u1ea3o lu\u1eadn v\u1ec1 c\u00e1c l\u1ef1a ch\u1ecdn n\u00e0y.<\/p>\n

T\u01b0 v\u1ea5n di truy\u1ec1n c\u00f3 s\u1eb5n \u0111\u1ec3 h\u1ed7 tr\u1ee3 c\u00e1c gia \u0111\u00ecnh trong c\u00e1c quy\u1ebft \u0111\u1ecbnh x\u00e9t nghi\u1ec7m, gi\u1ea3i th\u00edch k\u1ebft qu\u1ea3 x\u00e9t nghi\u1ec7m v\u00e0 hi\u1ec3u ph\u1ea1m vi b\u1ea3o hi\u1ec3m y t\u1ebf. C\u00e1c gia \u0111\u00ecnh \u0111\u01b0\u1ee3c khuy\u1ebfn kh\u00edch t\u00ecm ki\u1ebfm m\u1ed9t c\u1ed1 v\u1ea5n di truy\u1ec1n, \u0111\u1eb7c bi\u1ec7t l\u00e0 tr\u01b0\u1edbc khi s\u00e0ng l\u1ecdc ng\u01b0\u1eddi mang m\u1ea7m b\u1ec7nh, \u0111\u1ec3 \u0111\u01b0\u1ee3c th\u00f4ng b\u00e1o nhi\u1ec1u nh\u1ea5t khi \u0111\u01b0a ra quy\u1ebft \u0111\u1ecbnh ch\u0103m s\u00f3c s\u1ee9c kh\u1ecfe di truy\u1ec1n.<\/p>\n

5. \u0110i\u1ec1u tr\u1ecb b\u1ec7nh<\/h2>\n

Kh\u00f4ng c\u00f3 ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb n\u00e0o \u0111\u01b0\u1ee3c ch\u1ea5p thu\u1eadn cho b\u1ec7nh Tay-Sachs. \u0110i\u1ec1u tr\u1ecb \u0111\u01b0\u1ee3c h\u01b0\u1edbng t\u1edbi vi\u1ec7c qu\u1ea3n l\u00fd c\u00e1c tri\u1ec7u ch\u1ee9ng c\u1ee7a t\u1eebng c\u00e1 th\u1ec3 ng\u01b0\u1eddi b\u1ec7nh. \u0110i\u1ec1u tr\u1ecb c\u00f3 th\u1ec3 \u0111\u00f2i h\u1ecfi nh\u1eefng n\u1ed7 l\u1ef1c ph\u1ed1i h\u1ee3p c\u1ee7a m\u1ed9t nh\u00f3m c\u00e1c chuy\u00ean gia. B\u00e1c s\u0129 nhi khoa, b\u00e1c s\u0129 th\u1ea7n kinh, nh\u00e0 \u00e2m ng\u1eef tr\u1ecb li\u1ec7u, chuy\u00ean gia \u0111\u00e1nh gi\u00e1 v\u00e0 \u0111i\u1ec1u tr\u1ecb c\u00e1c v\u1ea5n \u0111\u1ec1 v\u1ec1 th\u00ednh gi\u00e1c (nh\u00e0 th\u00ednh h\u1ecdc), chuy\u00ean gia m\u1eaft v\u00e0 c\u00e1c chuy\u00ean gia ch\u0103m s\u00f3c s\u1ee9c kh\u1ecfe kh\u00e1c c\u00f3 th\u1ec3 c\u1ea7n h\u1ee3p t\u00e1c \u0111\u1ec3 ph\u00e1t tri\u1ec3n m\u1ed9t k\u1ebf ho\u1ea1ch \u0111i\u1ec1u tr\u1ecb cho tr\u1ebb b\u1ecb \u1ea3nh h\u01b0\u1edfng.<\/p>\n

Do kh\u1ea3 n\u0103ng kh\u00f3 kh\u0103n khi cho \u0103n, tr\u1ebb s\u01a1 sinh c\u1ea7n \u0111\u01b0\u1ee3c theo d\u00f5i t\u00ecnh tr\u1ea1ng dinh d\u01b0\u1ee1ng v\u00e0 hydrat h\u00f3a th\u00edch h\u1ee3p. H\u1ed7 tr\u1ee3 dinh d\u01b0\u1ee1ng v\u00e0 b\u1ed5 sung c\u00f3 th\u1ec3 l\u00e0 c\u1ea7n thi\u1ebft. \u0110\u00f4i khi, vi\u1ec7c \u0111\u1eb7t \u1ed1ng cho \u0103n c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c y\u00eau c\u1ea7u \u0111\u1ec3 gi\u00fap ng\u0103n ch\u1eb7n th\u1ee9c \u0103n, ch\u1ea5t l\u1ecfng ho\u1eb7c v\u1eadt li\u1ec7u l\u1ea1 kh\u00e1c v\u00f4 t\u00ecnh \u0111i v\u00e0o ph\u1ed5i.<\/p>\n

Thu\u1ed1c ch\u1ed1ng co gi\u1eadt c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng \u0111\u1ec3 \u0111i\u1ec1u tr\u1ecb co gi\u1eadt \u1edf m\u1ed9t s\u1ed1 ng\u01b0\u1eddi m\u1eafc b\u1ec7nh Tay-Sachs, nh\u01b0ng c\u00f3 th\u1ec3 kh\u00f4ng hi\u1ec7u qu\u1ea3 \u1edf t\u1ea5t c\u1ea3 m\u1ecdi ng\u01b0\u1eddi. C\u00e1c lo\u1ea1i v\u00e0 t\u1ea7n su\u1ea5t co gi\u1eadt c\u00f3 th\u1ec3 thay \u0111\u1ed5i theo th\u1eddi gian \u1edf m\u1ed9t s\u1ed1 c\u00e1 nh\u00e2n, \u0111i\u1ec1u n\u00e0y s\u1ebd \u0111\u00f2i h\u1ecfi ph\u1ea3i thay \u0111\u1ed5i lo\u1ea1i thu\u1ed1c ho\u1eb7c li\u1ec1u l\u01b0\u1ee3ng.<\/p>\n

T\u01b0 v\u1ea5n di truy\u1ec1n \u0111\u01b0\u1ee3c khuy\u1ebfn ngh\u1ecb cho c\u00e1c c\u00e1 nh\u00e2n b\u1ecb \u1ea3nh h\u01b0\u1edfng v\u00e0 gia \u0111\u00ecnh c\u1ee7a h\u1ecd. H\u1ed7 tr\u1ee3 t\u00e2m l\u00fd x\u00e3 h\u1ed9i \u0111\u01b0\u1ee3c khuy\u1ebfn kh\u00edch cho c\u1ea3 gia \u0111\u00ecnh.<\/p>\n

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B\u1ec7nh Tay Sachs (Tay-Sachs disease) l\u00e0 m\u1ed9t b\u1ec7nh l\u01b0u tr\u1eef lysosomal d\u1eabn \u0111\u1ebfn s\u1ef1 t\u00edch t\u1ee5 ganglioside GM2 trong t\u1ebf b\u00e0o th\u1ea7n kinh c\u1ee7a h\u1ec7 th\u1ed1ng th\u1ea7n kinh trung \u01b0\u01a1ng. \u0110i\u1ec1u n\u00e0y d\u1eabn \u0111\u1ebfn co gi\u1eadt, ch\u1eadm v\u1eadn \u0111\u1ed9ng, tr\u01b0\u01a1ng l\u1ef1c c\u01a1 th\u1ea5p v\u00e0 tho\u00e1i h\u00f3a nhanh ch\u00f3ng c\u1ee7a h\u1ec7 th\u1ed1ng th\u1ea7n kinh. Ch\u1ea9n \u0111o\u00e1n […]<\/p>\n","protected":false},"author":26,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[10,33],"tags":[],"yoast_head":"\nB\u1ec7nh Tay - Sachs: nguy\u00ean nh\u00e2n, tri\u1ec7u ch\u1ee9ng v\u00e0 \u0111i\u1ec1u tr\u1ecb - Vinmec<\/title>\n<meta name=\"description\" content=\"B\u1ec7nh Tay Sachs (Tay-Sachs disease) l\u00e0 m\u1ed9t b\u1ec7nh l\u01b0u tr\u1eef lysosomal d\u1eabn \u0111\u1ebfn s\u1ef1 t\u00edch t\u1ee5 ganglioside GM2 trong t\u1ebf b\u00e0o th\u1ea7n kinh trung \u01b0\u01a1ng.\" \/>\n<meta name=\"robots\" content=\"noindex, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"B\u1ec7nh Tay - Sachs: nguy\u00ean nh\u00e2n, tri\u1ec7u ch\u1ee9ng v\u00e0 \u0111i\u1ec1u tr\u1ecb - Vinmec\" \/>\n<meta property=\"og:description\" content=\"B\u1ec7nh Tay Sachs (Tay-Sachs disease) l\u00e0 m\u1ed9t b\u1ec7nh l\u01b0u tr\u1eef lysosomal d\u1eabn \u0111\u1ebfn s\u1ef1 t\u00edch t\u1ee5 ganglioside GM2 trong t\u1ebf b\u00e0o th\u1ea7n kinh trung \u01b0\u01a1ng.\" \/>\n<meta property=\"og:url\" content=\"http:\/\/noithathoaphat.in\/ctv\/index.php\/2023\/05\/13\/benh-tay-sachs-nguyen-nhan-trieu-chung-va-dieu-tri\/\" \/>\n<meta property=\"og:site_name\" content=\"Vinmec\" \/>\n<meta property=\"article:published_time\" content=\"2023-05-13T02:23:11+00:00\" \/>\n<meta property=\"og:image\" content=\"http:\/\/noithathoaphat.in\/ctv\/wp-content\/uploads\/2023\/05\/nguyen-nhan-gay-benh-Tay-Sachs-1024x583.jpg\" \/>\n<meta name=\"author\" content=\"Duyet Vu Hong\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Duyet Vu Hong\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"11 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"http:\/\/noithathoaphat.in\/ctv\/index.php\/2023\/05\/13\/benh-tay-sachs-nguyen-nhan-trieu-chung-va-dieu-tri\/\",\"url\":\"http:\/\/noithathoaphat.in\/ctv\/index.php\/2023\/05\/13\/benh-tay-sachs-nguyen-nhan-trieu-chung-va-dieu-tri\/\",\"name\":\"B\u1ec7nh Tay - 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