{"id":24484,"date":"2023-04-22T05:15:46","date_gmt":"2023-04-21T22:15:46","guid":{"rendered":"http:\/\/noithathoaphat.in\/ctv\/?p=24484"},"modified":"2023-04-22T05:15:46","modified_gmt":"2023-04-21T22:15:46","slug":"hoi-chung-chediak-higashi","status":"publish","type":"post","link":"http:\/\/noithathoaphat.in\/ctv\/index.php\/2023\/04\/22\/hoi-chung-chediak-higashi\/","title":{"rendered":"H\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi"},"content":{"rendered":"

H\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi l\u00e0 m\u1ed9t r\u1ed1i lo\u1ea1n suy gi\u1ea3m mi\u1ec5n d\u1ecbch di truy\u1ec1n gen l\u1eb7n tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 th\u01b0\u1eddng hi\u1ebfm g\u1eb7p, \u0111\u01b0\u1ee3c \u0111\u1eb7c tr\u01b0ng b\u1edfi s\u1ef1 suy gi\u1ea3m kh\u1ea3 n\u0103ng ly gi\u1ea3i c\u1ee7a vi khu\u1ea9n b\u1ecb th\u1ef1c b\u00e0o, d\u1eabn \u0111\u1ebfn nhi\u1ec5m tr\u00f9ng \u0111\u01b0\u1eddng h\u00f4 h\u1ea5p v\u00e0 c\u00e1c b\u1ec7nh nhi\u1ec5m tr\u00f9ng kh\u00e1c t\u00e1i ph\u00e1t v\u00e0 b\u1ec7nh b\u1ea1ch t\u1ea1ng \u1edf m\u1eaft v\u00e0 da. X\u00e9t nghi\u1ec7m di truy\u1ec1n cho \u0111\u1ed9t bi\u1ebfn\u00a0LYST<\/i>\u00a0c\u00f3 th\u1ec3 kh\u1eb3ng \u0111\u1ecbnh ch\u1ea9n \u0111o\u00e1n. \u0110i\u1ec1u tr\u1ecb bao g\u1ed3m d\u1ef1 ph\u00f2ng kh\u00e1ng sinh, interferon gamma v\u00e0 \u0111\u00f4i khi corticosteroid. \u0110\u00f4i khi c\u1ea5y gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c c\u00f3 th\u1ec3 ch\u1eefa b\u1ec7nh.<\/p>\n

 <\/p>\n

1. C\u00e1c tri\u1ec7u ch\u1ee9ng v\u00e0 d\u1ea5u hi\u1ec7u c\u1ee7a h\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi<\/h2>\n

C\u00e1c k\u1ebft qu\u1ea3 l\u00e2m s\u00e0ng c\u1ee7a h\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi bao g\u1ed3m b\u1ec7nh\u00a0b\u1ea1ch t\u1ea1ng m\u1eaft<\/a>\u00a0v\u00e0 nh\u1ea1y c\u1ea3m v\u1edbi c\u00e1c b\u1ec7nh nhi\u1ec5m tr\u00f9ng \u0111\u01b0\u1eddng h\u00f4 h\u1ea5p v\u00e0 c\u00e1c b\u1ec7nh nhi\u1ec5m khu\u1ea9n kh\u00e1c.<\/p>\n

\"\"
M\u1ed9t tr\u01b0\u1eddng h\u1ee3p m\u1eafc h\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi c\u00f3 bi\u1ec3u hi\u1ec7n ki\u1ec3u h\u00ecnh c\u1ee7a b\u1ec7nh nh\u00e2n b\u1ecb b\u1ea1ch t\u1ea1ng<\/figcaption><\/figure>\n

Ngo\u00e0i ra, h\u1ecd g\u1eb7p ph\u1ea3i c\u00e1c v\u1ea5n \u0111\u1ec1 th\u1ecb l\u1ef1c nh\u01b0 gi\u1ea3m \u0111\u1ed9 s\u1eafc n\u00e9t, chuy\u1ec3n \u0111\u1ed9ng m\u1eaft nhanh, rung gi\u1eadt nh\u00e3n c\u1ea7u v\u00e0 s\u1ee3 \u00e1nh s\u00e1ng. Nhi\u1ec1u tr\u01b0\u1eddng h\u1ee3p r\u1ed1i lo\u1ea1n \u0111\u00f4ng m\u00e1u, d\u1eabn \u0111\u1ebfn d\u1ec5 b\u1ecb b\u1ea7m t\u00edm v\u00e0 ch\u1ea3y m\u00e1u b\u1ea5t th\u01b0\u1eddng. \u0110\u1ebfn tu\u1ed5i tr\u01b0\u1edfng th\u00e0nh, h\u1ec7 th\u1ea7n kinh c\u1ee7a ng\u01b0\u1eddi b\u1ec7nh c\u00f3 th\u1ec3 b\u1ecb \u1ea3nh h\u01b0\u1edfng g\u00e2y suy nh\u01b0\u1ee3c, kh\u00f3 \u0111i l\u1ea1i v\u00e0 co gi\u1eadt.<\/p>\n

C\u00e1c tri\u1ec7u ch\u1ee9ng kh\u00e1c c\u00f3 th\u1ec3 bao g\u1ed3m:<\/p>\n

    \n
  • Gi\u1ea3m th\u1ecb l\u1ef1c<\/li>\n
  • Khuy\u1ebft t\u1eadt tr\u00ed tu\u1ec7<\/li>\n
  • Y\u1ebfu c\u01a1<\/li>\n
  • C\u00e1c v\u1ea5n \u0111\u1ec1 v\u1ec1 d\u00e2y th\u1ea7n kinh \u1edf c\u00e1c chi (b\u1ec7nh th\u1ea7n kinh ngo\u1ea1i bi\u00ean )<\/li>\n
  • Ch\u1ea3y m\u00e1u cam ho\u1eb7c d\u1ec5 b\u1ecb b\u1ea7m t\u00edm<\/li>\n
  • T\u00ea<\/li>\n
  • Rung chuyen<\/li>\n
  • Co gi\u1eadt<\/li>\n
  • Nh\u1ea1y c\u1ea3m v\u1edbi \u00e1nh s\u00e1ng ch\u00f3i (ch\u1ee9ng s\u1ee3 \u00e1nh s\u00e1ng)<\/li>\n<\/ul>\n

    Tr\u01b0\u1eddng h\u1ee3p \u0111i\u1ec1u tr\u1ecb kh\u00f4ng th\u00e0nh c\u00f4ng, h\u1ed9i ch\u1ee9ng Chediak-Higashi chuy\u1ec3n sang giai \u0111o\u1ea1n ti\u1ebfn tri\u1ec3n nhanh. Ng\u01b0\u1eddi b\u1ec7nh b\u1ecb s\u1ed1t, ch\u1ea3y m\u00e1u b\u1ea5t th\u01b0\u1eddng, nhi\u1ec5m tr\u00f9ng n\u1eb7ng v\u00e0 suy n\u1ed9i t\u1ea1ng. N\u1ebfu tr\u1ebb d\u01b0\u1edbi 7 tu\u1ed5i m\u1eafc b\u1ec7nh trong giai \u0111o\u1ea1n n\u00e0y, tr\u1ebb c\u00f3 nguy c\u01a1 t\u1eed vong cao.<\/p>\n

    M\u1ed9t s\u1ed1 tr\u01b0\u1eddng b\u1ec7nh nh\u1eb9 c\u00f3 \u00edt thay \u0111\u1ed5i m\u00e0u da v\u00e0 nguy c\u01a1 nhi\u1ec5m tr\u00f9ng t\u00e1i ph\u00e1t th\u1ea5p. Tuy nhi\u00ean, h\u1ecd c\u00f3 nguy c\u01a1 cao m\u1eafc c\u00e1c v\u1ea5n \u0111\u1ec1 v\u1ec1 th\u1ea7n kinh ti\u1ebfn tri\u1ec3n nh\u01b0 run, kh\u00f3 v\u1eadn \u0111\u1ed9ng, m\u1ea5t th\u0103ng b\u1eb1ng, b\u1ec7nh th\u1ea7n kinh ngo\u1ea1i vi.<\/p>\n

    2. Ch\u1ea9n \u0111o\u00e1n<\/h2>\n
    \n

    H\u1ed9i ch\u1ee9ng Chediak-Higashi \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n d\u1ef1a tr\u00ean tri\u1ec7u ch\u1ee9ng l\u00e2m s\u00e0ng, ti\u1ec1n s\u1eed nhi\u1ec5m tr\u00f9ng ho\u1eb7c ch\u1ea3y m\u00e1u. B\u00e1c s\u0129 s\u1ebd ch\u1ec9 \u0111\u1ecbnh m\u1ed9t s\u1ed1 x\u00e9t nghi\u1ec7m \u0111\u00e1nh gi\u00e1 nh\u01b0 ph\u1ebft m\u00e1u ngo\u1ea1i vi t\u00ecm c\u00e1c h\u1ea1t kh\u1ed5ng l\u1ed3 trong b\u1ea1ch c\u1ea7u trung t\u00ednh v\u00e0 c\u00e1c t\u1ebf b\u00e0o kh\u00e1c, ph\u1ebft t\u1ebf b\u00e0o t\u1ee7y x\u01b0\u01a1ng ki\u1ec3m tra c\u00e1c th\u1ec3 v\u00f9i kh\u1ed5ng l\u1ed3 trong c\u00e1c t\u1ebf b\u00e0o ti\u1ec1n th\u00e2n b\u1ea1ch c\u1ea7u. Ch\u1ea9n \u0111o\u00e1n h\u1ed9i ch\u1ee9ng Chediak-Higashi c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c x\u00e1c \u0111\u1ecbnh b\u1eb1ng\u00a0x\u00e9t nghi\u1ec7m di truy\u1ec1n\u00a0t\u00ecm \u0111\u1ed9t bi\u1ebfn LYST.<\/p>\n

    \"\"
    C\u00e1c h\u1ea1t kh\u1ed5ng l\u1ed3 trong b\u1ea1ch c\u1ea7u trung t\u00ednh trong ph\u1ebft m\u00e1u ngo\u1ea1i bi\u00ean c\u1ee7a b\u1ec7nh nh\u00e2n<\/figcaption><\/figure>\n<\/div>\n

    3. \u0110i\u1ec1u tr\u1ecb<\/h2>\n
    \n

    Kh\u00e1ng sinh d\u1ef1 ph\u00f2ng c\u00f3 th\u1ec3 gi\u00fap ng\u0103n ng\u1eeba nhi\u1ec5m tr\u00f9ng, v\u00e0 interferon gamma c\u00f3 th\u1ec3 gi\u00fap kh\u00f4i ph\u1ee5c l\u1ea1i m\u1ed9t s\u1ed1 ch\u1ee9c n\u0103ng c\u1ee7a h\u1ec7 mi\u1ec5n d\u1ecbch. Li\u1ec1u n\u1ea1p c\u1ee7a corticosteroid v\u00e0 c\u1eaft l\u00e1ch \u0111\u00f4i khi l\u00e0m thuy\u00ean gi\u1ea3m tho\u00e1ng qua c\u1ee7a h\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi.<\/p>\n<\/div>\n

    \n

    Tuy nhi\u00ean, tr\u1eeb khi\u00a0s\u1ef1 gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c t\u1ea1o huy\u1ebft\u00a0\u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n, ph\u1ea7n l\u1edbn b\u1ec7nh nh\u00e2n t\u1eed vong v\u1edbi h\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi v\u00ec nhi\u1ec5m tr\u00f9ng \u1edf tu\u1ed5i l\u00ean 7. Vi\u1ec7c c\u1ea5y gh\u00e9p t\u1ee7y x\u01b0\u01a1ng c\u00f9ng kh\u00e1ng nguy\u00ean b\u1ea1ch c\u1ea7u ng\u01b0\u1eddi (HLA) kh\u00f4ng ph\u00e2n \u0111o\u1ea1n sau khi \u0111i\u1ec1u tr\u1ecb b\u1eb1ng h\u00f3a tr\u1ecb li\u1ec7u gi\u1ea3m t\u1ebf b\u00e0o c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c ch\u1eefa kh\u1ecfi. T\u1ef7 l\u1ec7 s\u1ed1ng sau khi gh\u00e9p n\u0103m n\u0103m l\u00e0 kho\u1ea3ng 60%.<\/p>\n

    4. Bi\u1ebfn ch\u1ee9ng<\/h2>\n

    H\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi l\u00e0 m\u1ed9t b\u1ec7nh di truy\u1ec1n hi\u1ebfm, c\u00f3 th\u1ec3 g\u00e2y ra nhi\u1ec1u bi\u1ebfn ch\u1ee9ng kh\u00e1c nhau do s\u1ef1 t\u1ed5n th\u01b0\u01a1ng c\u1ee7a c\u00e1c h\u1ec7 th\u1ed1ng trong c\u01a1 th\u1ec3. C\u00e1c bi\u1ebfn ch\u1ee9ng c\u1ee7a h\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi c\u00f3 th\u1ec3 bao g\u1ed3m:<\/p>\n

      \n
    1. Nhi\u1ec5m tr\u00f9ng: B\u1ec7nh nh\u00e2n m\u1eafc h\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi c\u00f3 kh\u1ea3 n\u0103ng mi\u1ec5n d\u1ecbch suy y\u1ebfu, \u0111\u1eb7c bi\u1ec7t l\u00e0 kh\u1ea3 n\u0103ng ph\u1ea3n \u1ee9ng c\u1ee7a t\u1ebf b\u00e0o NK (t\u1ebf b\u00e0o t\u1ef1 nhi\u00ean gi\u1ebft ch\u1ebft) v\u00e0 t\u1ebf b\u00e0o T, d\u1eabn \u0111\u1ebfn kh\u1ea3 n\u0103ng ch\u1ed1ng l\u1ea1i c\u00e1c nhi\u1ec5m tr\u00f9ng k\u00e9m. B\u1ec7nh nh\u00e2n d\u1ec5 b\u1ecb nhi\u1ec5m tr\u00f9ng n\u1eb7ng, th\u01b0\u1eddng xuy\u00ean v\u00e0 nhi\u1ec1u bi\u1ebfn ch\u1ee9ng nhi\u1ec5m tr\u00f9ng c\u00f3 th\u1ec3 x\u1ea3y ra.<\/li>\n
    2. Xu\u1ea5t huy\u1ebft: H\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi c\u00f3 th\u1ec3 g\u00e2y ra c\u00e1c v\u1ea5n \u0111\u1ec1 li\u00ean quan \u0111\u1ebfn huy\u1ebft h\u1ecdc, bao g\u1ed3m gi\u1ea3m ba d\u00f2ng (s\u1ef1 gi\u1ea3m s\u1ed1 l\u01b0\u1ee3ng ti\u1ec3u c\u1ea7u, h\u1ed3ng c\u1ea7u v\u00e0 b\u1ea1ch c\u1ea7u), \u0111\u1ed3ng th\u1eddi c\u0169ng c\u00f3 th\u1ec3 g\u00e2y xu\u1ea5t huy\u1ebft do gi\u1ea3m ch\u1ee9c n\u0103ng c\u1ee7a c\u00e1c t\u1ebf b\u00e0o ti\u1ec3u c\u1ea7u v\u00e0 c\u00e1c t\u1ebf b\u00e0o kh\u00e1c trong qu\u00e1 tr\u00ecnh \u0111\u00f4ng m\u00e1u.<\/li>\n
    3. T\u1ed5n th\u01b0\u01a1ng t\u00e2m th\u1ea7n: M\u1ed9t s\u1ed1 b\u1ec7nh nh\u00e2n m\u1eafc h\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi c\u00f3 th\u1ec3 g\u1eb7p c\u00e1c v\u1ea5n \u0111\u1ec1 v\u1ec1 t\u00e2m th\u1ea7n, bao g\u1ed3m kh\u00f3 kh\u0103n trong vi\u1ec7c h\u1ecdc t\u1eadp, t\u0103ng \u0111\u1ed9ng, v\u00e0 c\u00e1c v\u1ea5n \u0111\u1ec1 t\u00e2m l\u00fd kh\u00e1c. \u0110i\u1ec1u n\u00e0y c\u00f3 th\u1ec3 li\u00ean quan \u0111\u1ebfn s\u1ef1 t\u1ed5n th\u01b0\u01a1ng c\u1ee7a h\u1ec7 th\u1ed1ng th\u1ea7n kinh trong c\u01a1 th\u1ec3.<\/li>\n
    4. T\u1ed5n th\u01b0\u01a1ng n\u1ed9i t\u1ea1ng: C\u00e1c t\u1ed5n th\u01b0\u01a1ng n\u1ed9i t\u1ea1ng nh\u01b0 to l\u00e1ch gan, gan nhi\u1ec5m m\u1ee1, suy gan, suy th\u1eadn, v\u00e0 c\u00e1c v\u1ea5n \u0111\u1ec1 v\u1ec1 h\u1ec7 th\u1ed1ng h\u00f4 h\u1ea5p c\u00f3 th\u1ec3 x\u1ea3y ra do h\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi.<\/li>\n
    5. T\u1ed5n th\u01b0\u01a1ng da: B\u1ec7nh nh\u00e2n m\u1eafc h\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi c\u00f3 th\u1ec3 c\u00f3 c\u00e1c v\u1ea5n \u0111\u1ec1 li\u00ean quan \u0111\u1ebfn da nh\u01b0 da nh\u1ea1y c\u1ea3m, n\u1ed5i m\u1ea9n, kh\u00f3 l\u00e0nh v\u1ebft th\u01b0\u01a1ng, v\u00e0 t\u1ed5n th\u01b0\u01a1ng da kh\u00e1c.<\/li>\n<\/ol>\n

      5. Ph\u00f2ng ng\u1eeba<\/h2>\n

      H\u1ed9i ch\u1ee9ng Chediak-Higashi\u00a0di truy\u1ec1n l\u1eb7n\u00a0\u0111\u1ed9t bi\u1ebfn gen LYST, cha m\u1eb9 mang \u0111\u1ed9t bi\u1ebfn d\u1ecb h\u1ee3p n\u00ean g\u1ea7n nh\u01b0 kh\u00f4ng c\u00f3 bi\u1ec3u hi\u1ec7n b\u1ec7nh, do \u0111\u00f3 r\u1ea5t kh\u00f3 ph\u00e1t hi\u1ec7n cho \u0111\u1ebfn khi sinh con. \u0110\u1ec3 ch\u1ee7 \u0111\u1ed9ng ph\u00f2ng ng\u1eeba, cha m\u1eb9 n\u00ean l\u00e0m\u00a0x\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc gen l\u1eb7n\u00a0\u0111\u1ec3 ch\u1ee7 \u0111\u1ed9ng cho t\u01b0\u01a1ng lai c\u1ee7a con. C\u00e1c c\u1eb7p v\u1ee3 ch\u1ed3ng tr\u01b0\u1edbc khi mang thai c\u1ea7n t\u01b0 v\u1ea5n v\u00e0 x\u00e9t nghi\u1ec7m di truy\u1ec1n \u0111\u1ea3m b\u1ea3o sinh con kh\u1ecfe m\u1ea1nh. Ng\u01b0\u1eddi thu\u1ed9c nh\u00f3m nguy c\u01a1 m\u1eafc b\u1ec7nh c\u1ea7n kh\u00e1m s\u1ee9c kh\u1ecfe v\u00e0 t\u1ea7m so\u00e1t b\u1ec7nh \u0111\u1ecbnh k\u1ef3.<\/p>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

      H\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi l\u00e0 m\u1ed9t r\u1ed1i lo\u1ea1n suy gi\u1ea3m mi\u1ec5n d\u1ecbch di truy\u1ec1n gen l\u1eb7n tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 th\u01b0\u1eddng hi\u1ebfm g\u1eb7p, \u0111\u01b0\u1ee3c \u0111\u1eb7c tr\u01b0ng b\u1edfi s\u1ef1 suy gi\u1ea3m kh\u1ea3 n\u0103ng ly gi\u1ea3i c\u1ee7a vi khu\u1ea9n b\u1ecb th\u1ef1c b\u00e0o, d\u1eabn \u0111\u1ebfn nhi\u1ec5m tr\u00f9ng \u0111\u01b0\u1eddng h\u00f4 h\u1ea5p v\u00e0 c\u00e1c b\u1ec7nh nhi\u1ec5m tr\u00f9ng kh\u00e1c t\u00e1i ph\u00e1t v\u00e0 […]<\/p>\n","protected":false},"author":30,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[73,33],"tags":[],"yoast_head":"\nH\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi - Vinmec<\/title>\n<meta name=\"description\" content=\"H\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi l\u00e0 m\u1ed9t b\u1ec7nh di truy\u1ec1n hi\u1ebfm g\u1eb7p, \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn h\u1ec7 th\u1ed1ng mi\u1ec5n d\u1ecbch v\u00e0 h\u1ec7 th\u1ea7n kinh.\" \/>\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=\"H\u1ed9i ch\u1ee9ng Ch\u00e9diak-Higashi - 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