<\/span><\/h1>\nGalactosemia<\/strong> l\u00e0 m\u1ed9t r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a b\u1ea9m sinh hi\u1ebfm g\u1eb7p, x\u1ea3y ra khi c\u01a1 th\u1ec3 tr\u1ebb s\u01a1 sinh kh\u00f4ng th\u1ec3 chuy\u1ec3n h\u00f3a \u0111\u01b0\u1eddng galactose c\u00f3 trong s\u1eefa m\u1eb9 v\u00e0 c\u00e1c s\u1ea3n ph\u1ea9m t\u1eeb s\u1eefa. N\u1ebfu kh\u00f4ng \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n v\u00e0 can thi\u1ec7p s\u1edbm, b\u1ec7nh c\u00f3 th\u1ec3 g\u00e2y t\u1ed5n th\u01b0\u01a1ng gan, th\u1eadn, m\u1eaft v\u00e0 n\u00e3o, th\u1eadm ch\u00ed \u0111e d\u1ecda t\u00ednh m\u1ea1ng tr\u1ebb.<\/p>\nT\u1ea1i Quy Nh\u01a1n<\/strong>, vi\u1ec7c th\u1ef1c hi\u1ec7n s\u00e0ng l\u1ecdc Galactosemia \u1edf tr\u1ebb s\u01a1 sinh<\/strong> ng\u00e0y c\u00e0ng \u0111\u01b0\u1ee3c nhi\u1ec1u ph\u1ee5 huynh quan t\u00e2m. Ph\u01b0\u01a1ng ph\u00e1p n\u00e0y gi\u00fap ph\u00e1t hi\u1ec7n b\u1ec7nh s\u1edbm ngay t\u1eeb nh\u1eefng ng\u00e0y \u0111\u1ea7u \u0111\u1eddi, nh\u1edd \u0111\u00f3 b\u00e1c s\u0129 c\u00f3 th\u1ec3 \u0111\u01b0a ra ph\u00e1c \u0111\u1ed3 dinh d\u01b0\u1ee1ng v\u00e0 \u0111i\u1ec1u tr\u1ecb k\u1ecbp th\u1eddi, h\u1ea1n ch\u1ebf t\u1ed1i \u0111a bi\u1ebfn ch\u1ee9ng nguy hi\u1ec3m.<\/p>\n\u0110\u1eb7c bi\u1ec7t, x\u00e9t nghi\u1ec7m r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a \u0111\u01b0\u1eddng galactose \u1edf tr\u1ebb s\u01a1 sinh t\u1ea1i Quy Nh\u01a1n<\/strong> hi\u1ec7n \u0111\u00e3 c\u00f3 th\u1ec3 th\u1ef1c hi\u1ec7n thu\u1eadn ti\u1ec7n t\u1ea1i c\u00e1c c\u01a1 s\u1edf y t\u1ebf uy t\u00edn, gi\u00fap gia \u0111\u00ecnh y\u00ean t\u00e2m h\u01a1n trong vi\u1ec7c b\u1ea3o v\u1ec7 s\u1ee9c kh\u1ecfe tr\u1ebb ngay t\u1eeb giai \u0111o\u1ea1n \u0111\u1ea7u \u0111\u1eddi.<\/p>\n<\/span>1. Kh\u00e1i ni\u1ec7m v\u1ec1 b\u1ec7nh Galactosemia (R<\/strong>\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a galactose)<\/strong><\/span><\/h2>\nGalactosemia<\/strong> l\u00e0 m\u1ed9t b\u1ec7nh l\u00fd r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a galactose b\u1ea9m sinh, thu\u1ed9c nh\u00f3m b\u1ec7nh di truy\u1ec1n hi\u1ebfm g\u1eb7p. Nguy\u00ean nh\u00e2n l\u00e0 do c\u01a1 th\u1ec3 kh\u00f4ng th\u1ec3 chuy\u1ec3n h\u00f3a galactose \u2013 lo\u1ea1i \u0111\u01b0\u1eddng \u0111\u01a1n c\u00f3 trong lactose \u2013 th\u00e0nh glucose \u0111\u1ec3 t\u1ea1o n\u0103ng l\u01b0\u1ee3ng. Galactose c\u00f3 nhi\u1ec1u trong s\u1eefa m\u1eb9, s\u1eefa c\u00f4ng th\u1ee9c v\u00e0 c\u00e1c s\u1ea3n ph\u1ea9m t\u1eeb s\u1eefa, ngo\u00e0i ra m\u1ed9t s\u1ed1 th\u1ef1c ph\u1ea9m kh\u00e1c c\u0169ng ch\u1ee9a l\u01b0\u1ee3ng nh\u1ecf lo\u1ea1i \u0111\u01b0\u1eddng n\u00e0y.<\/p>\nB\u1ec7nh \u0111\u01b0\u1ee3c di truy\u1ec1n theo c\u01a1 ch\u1ebf gen l\u1eb7n tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 th\u01b0\u1eddng<\/strong>. Khi tr\u1ebb thi\u1ebfu h\u1ee5t m\u1ed9t trong c\u00e1c enzyme c\u1ea7n thi\u1ebft cho qu\u00e1 tr\u00ecnh chuy\u1ec3n h\u00f3a, galactose s\u1ebd t\u00edch t\u1ee5 trong m\u00e1u v\u00e0 m\u00f4, g\u00e2y t\u1ed5n th\u01b0\u01a1ng nghi\u00eam tr\u1ecdng cho gan, m\u1eaft, th\u1eadn v\u00e0 n\u00e3o. N\u1ebfu kh\u00f4ng \u0111i\u1ec1u tr\u1ecb, b\u1ec7nh c\u00f3 th\u1ec3 d\u1eabn \u0111\u1ebfn nhi\u1ec1u bi\u1ebfn ch\u1ee9ng n\u1eb7ng ho\u1eb7c t\u1eed vong.<\/p>\n![\"R\u1ed1i](\"https:\/\/ytehoaduc.com.vn\/en\/wp-content\/uploads\/2024\/12\/Buon-non-mat-nuoc-co-the-la-bieu-hien-cua-benh-tang-san-thuong-than-bam-sinhKU6Nz-300x169.webp\")
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S\u00e0ng l\u1ecdc s\u01a1 sinh t\u1ea1i Quy Nh\u01a1n gi\u00fap ph\u00e1t hi\u1ec7n s\u1edbm b\u1ec7nh Galactosemia (r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a galactose), t\u1eeb \u0111\u00f3 can thi\u1ec7p k\u1ecbp th\u1eddi \u0111\u1ec3 b\u1ea3o v\u1ec7 gan, m\u1eaft, th\u1eadn v\u00e0 n\u00e3o b\u1ed9 c\u1ee7a tr\u1ebb<\/em><\/p>\n<\/span>2. C\u00e1c th\u1ec3 b\u1ec7nh v\u00e0 d\u1ea5u hi\u1ec7u l\u00e2m s\u00e0ng<\/strong><\/span><\/h2>\n<\/span>2.1. Galactosemia do thi\u1ebfu enzyme GALK<\/strong><\/span><\/h3>\n\u1ede th\u1ec3 n\u00e0y, galactose d\u01b0 th\u1eeba b\u1ecb chuy\u1ec3n th\u00e0nh galactitol v\u00e0 t\u00edch t\u1ee5 trong m\u00f4, \u0111\u1eb7c bi\u1ec7t l\u00e0 m\u1eaft, g\u00e2y \u0111\u1ee5c th\u1ee7y tinh th\u1ec3. M\u1ed9t s\u1ed1 tr\u01b0\u1eddng h\u1ee3p c\u00f2n k\u00e8m theo u n\u00e3o gi\u1ea3 v\u00e0 c\u00e1c r\u1ed1i lo\u1ea1n th\u1ecb gi\u00e1c kh\u00e1c.<\/p>\n
<\/span>2.2. Galactosemia do thi\u1ebfu enzyme GALT (th\u1ec3 c\u1ed5 \u0111i\u1ec3n)<\/strong><\/span><\/h3>\n\u0110\u00e2y l\u00e0 d\u1ea1ng n\u1eb7ng nh\u1ea5t v\u00e0 th\u01b0\u1eddng g\u1eb7p nhi\u1ec1u bi\u1ebfn ch\u1ee9ng nghi\u00eam tr\u1ecdng. Tr\u1ebb c\u00f3 th\u1ec3 xu\u1ea5t hi\u1ec7n t\u00ecnh tr\u1ea1ng n\u00f4n m\u1eeda, ti\u00eau ch\u1ea3y khi b\u00fa s\u1eefa, h\u1ea1 \u0111\u01b0\u1eddng huy\u1ebft, t\u0103ng amoniac m\u00e1u, v\u00e0ng da, v\u00e0ng m\u1eaft, t\u1ed5n th\u01b0\u01a1ng gan, suy gi\u1ea3m ch\u1ee9c n\u0103ng th\u1eadn, \u0111\u1ee5c th\u1ee7y tinh th\u1ec3, nhi\u1ec5m toan chuy\u1ec3n h\u00f3a, albumin ni\u1ec7u v\u00e0 ch\u1eadm ph\u00e1t tri\u1ec3n c\u1ea3 v\u1ec1 tr\u00ed tu\u1ec7 l\u1eabn ng\u00f4n ng\u1eef. N\u1ebfu kh\u00f4ng \u0111\u01b0\u1ee3c ph\u00e1t hi\u1ec7n v\u00e0 \u0111i\u1ec1u tr\u1ecb s\u1edbm, nguy c\u01a1 t\u1eed vong r\u1ea5t cao.<\/p>\n
<\/span>2.3. Galactosemia do thi\u1ebfu GALE<\/strong><\/span><\/h3>\nGalactosemia th\u1ec3 thi\u1ebfu GALE<\/strong> l\u00e0 d\u1ea1ng r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a galactose hi\u1ebfm g\u1eb7p, th\u01b0\u1eddng \u00edt g\u00e2y bi\u1ebfn ch\u1ee9ng nghi\u00eam tr\u1ecdng. Tuy nhi\u00ean, \u0111\u1ec3 ph\u00f2ng ng\u1eeba tri\u1ec7u ch\u1ee9ng c\u1ea5p t\u00ednh v\u00e0 b\u1ea3o v\u1ec7 s\u1ee9c kh\u1ecfe l\u00e2u d\u00e0i, tr\u1ebb c\u1ea7n duy tr\u00ec ch\u1ebf \u0111\u1ed9 \u0103n h\u1ea1n ch\u1ebf th\u1ef1c ph\u1ea9m ch\u1ee9a galactose.<\/p>\n<\/span>3. Bi\u1ec3u hi\u1ec7n c\u1ee7a r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a Galactose<\/strong><\/span><\/h2>\nT\u00f9y v\u00e0o th\u1ec3 b\u1ec7nh m\u00e0 c\u00e1c tri\u1ec7u ch\u1ee9ng c\u1ee7a r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a Galactose c\u00f3 s\u1ef1 kh\u00e1c bi\u1ec7t v\u1ec1 m\u1ee9c \u0111\u1ed9 v\u00e0 th\u1eddi \u0111i\u1ec3m xu\u1ea5t hi\u1ec7n.<\/p>\n\n\n
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<\/span>3.1. Galactosemia th\u1ec3 c\u1ed5 \u0111i\u1ec3n (Type I)<\/strong><\/span><\/h3>\n\u0110\u00e2y l\u00e0 th\u1ec3 b\u1ec7nh n\u1eb7ng nh\u1ea5t<\/strong> c\u1ee7a r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a galactose<\/strong>, th\u01b0\u1eddng xu\u1ea5t hi\u1ec7n ch\u1ec9 trong v\u00e0i tu\u1ea7n \u0111\u1ea7u sau sinh. Tr\u1ebb b\u00fa k\u00e9m<\/strong> ho\u1eb7c b\u1ecf b\u00fa ho\u00e0n to\u00e0n<\/strong>, k\u00e8m n\u00f4n \u00f3i<\/strong> v\u00e0 ti\u00eau ch\u1ea3y<\/strong>. Gi\u1ea3m tr\u01b0\u01a1ng l\u1ef1c c\u01a1<\/strong> l\u00e0 tri\u1ec7u ch\u1ee9ng ph\u1ed5 bi\u1ebfn, v\u00e0 \u1edf tr\u01b0\u1eddng h\u1ee3p nghi\u00eam tr\u1ecdng, tr\u1ebb c\u00f3 th\u1ec3 r\u01a1i v\u00e0o h\u00f4n m\u00ea<\/strong>. Khi th\u0103m kh\u00e1m, b\u00e1c s\u0129 c\u00f3 th\u1ec3 ph\u00e1t hi\u1ec7n v\u00e0ng da<\/strong>, xu\u1ea5t huy\u1ebft d\u01b0\u1edbi da<\/strong>, gan to<\/strong>, th\u00f3p ph\u1ed3ng<\/strong> v\u00e0 \u0111\u1ee5c th\u1ee7y tinh th\u1ec3<\/strong>.<\/p>\n<\/span>3.2. Galactosemia type II<\/strong><\/span><\/h3>\nTh\u1ec3 b\u1ec7nh n\u00e0y c\u00f3 di\u1ec5n bi\u1ebfn nh\u1eb9 h\u01a1n<\/strong> so v\u1edbi Galactosemia th\u1ec3 c\u1ed5 \u0111i\u1ec3n<\/strong>. D\u1ea5u hi\u1ec7u n\u1ed5i b\u1eadt nh\u1ea5t l\u00e0 \u0111\u1ee5c th\u1ee7y tinh th\u1ec3<\/strong>, trong khi c\u00e1c bi\u1ec3u hi\u1ec7n to\u00e0n th\u00e2n th\u01b0\u1eddng \u00edt g\u1eb7p.<\/p>\n<\/span>3.3. Galactosemia type III<\/strong><\/span><\/h3>\nNg\u01b0\u1eddi m\u1eafc Galactosemia type III<\/strong> c\u00f3 th\u1ec3 g\u1eb7p \u0111\u1ee5c th\u1ee7y tinh th\u1ec3<\/strong>, ch\u1eadm ph\u00e1t tri\u1ec3n th\u1ec3 ch\u1ea5t<\/strong> v\u00e0 tr\u00ed tu\u1ec7<\/strong>. Ngo\u00e0i ra, ch\u1ee9c n\u0103ng gan<\/strong> v\u00e0 th\u1eadn<\/strong> c\u0169ng c\u00f3 th\u1ec3 suy gi\u1ea3m, t\u00f9y m\u1ee9c \u0111\u1ed9 thi\u1ebfu h\u1ee5t enzyme<\/strong>.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n\n
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<\/span>4. C\u00e1c ph\u01b0\u01a1ng ph\u00e1p ph\u00e1t hi\u1ec7n v\u00e0 ch\u1ea9n \u0111o\u00e1n Galactosemia<\/strong><\/span><\/h2>\nHi\u1ec7n nay, c\u00f3 m\u1ed9t s\u1ed1 ph\u01b0\u01a1ng ph\u00e1p gi\u00fap ph\u00e1t hi\u1ec7n r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a galactose (Galactosemia)<\/strong> ngay khi ch\u01b0a xu\u1ea5t hi\u1ec7n tri\u1ec7u ch\u1ee9ng:<\/p>\n<\/span>4.1. S\u00e0ng l\u1ecdc s\u01a1 sinh<\/strong><\/span><\/h3>\nTh\u1ef1c hi\u1ec7n x\u00e9t nghi\u1ec7m m\u00e1u g\u00f3t ch\u00e2n trong v\u00f2ng 24\u201372 gi\u1edd sau sinh<\/strong> \u0111\u1ec3 \u0111o n\u1ed3ng \u0111\u1ed9 galactose<\/strong> ho\u1eb7c \u0111\u00e1nh gi\u00e1 ho\u1ea1t \u0111\u1ed9ng c\u1ee7a enzyme GALT<\/strong>. \u0110\u00e2y l\u00e0 ph\u01b0\u01a1ng ph\u00e1p nhanh, ch\u00ednh x\u00e1c v\u00e0 hi\u1ec7u qu\u1ea3 nh\u1ea5t<\/strong>, gi\u00fap ph\u00e1t hi\u1ec7n b\u1ec7nh tr\u01b0\u1edbc khi bi\u1ec3u hi\u1ec7n l\u00e2m s\u00e0ng xu\u1ea5t hi\u1ec7n, t\u1eeb \u0111\u00f3 can thi\u1ec7p k\u1ecbp th\u1eddi v\u00e0 ng\u0103n ng\u1eeba bi\u1ebfn ch\u1ee9ng nguy hi\u1ec3m.<\/p>\n<\/span>4.2. X\u00e9t nghi\u1ec7m sinh h\u00f3a m\u00e1u v\u00e0 n\u01b0\u1edbc ti\u1ec3u<\/strong><\/span><\/h3>\n\u0110o n\u1ed3ng \u0111\u1ed9 galactose<\/strong>, galactose-1-phosphate<\/strong> v\u00e0 ki\u1ec3m tra d\u1ea5u hi\u1ec7u t\u1ed5n th\u01b0\u01a1ng gan, th\u1eadn. Ph\u01b0\u01a1ng ph\u00e1p n\u00e0y th\u01b0\u1eddng \u0111\u01b0\u1ee3c \u00e1p d\u1ee5ng khi tr\u1ebb \u0111\u00e3 xu\u1ea5t hi\u1ec7n tri\u1ec7u ch\u1ee9ng ho\u1eb7c c\u00f3 nghi ng\u1edd l\u00e2m s\u00e0ng.<\/p>\n<\/span>4.3. X\u00e9t nghi\u1ec7m di truy\u1ec1n<\/strong><\/span><\/h3>\nPh\u00e1t hi\u1ec7n \u0111\u1ed9t bi\u1ebfn gen li\u00ean quan \u0111\u1ebfn GALT<\/strong>, GALK<\/strong> ho\u1eb7c GALE<\/strong>. \u0110\u00e2y l\u00e0 x\u00e9t nghi\u1ec7m h\u1eefu \u00edch v\u1edbi c\u00e1c gia \u0111\u00ecnh c\u00f3 ti\u1ec1n s\u1eed Galactosemia, gi\u00fap x\u00e1c \u0111\u1ecbnh nguy c\u01a1 ngay t\u1eeb tr\u01b0\u1edbc khi tr\u1ebb ch\u00e0o \u0111\u1eddi.<\/p>\nM\u1eb7c d\u00f9 c\u00f3 nhi\u1ec1u bi\u1ec7n ph\u00e1p, s\u00e0ng l\u1ecdc s\u01a1 sinh<\/strong> v\u1eabn \u0111\u01b0\u1ee3c khuy\u1ebfn c\u00e1o l\u00e0 l\u1ef1a ch\u1ecdn h\u00e0ng \u0111\u1ea7u<\/strong> v\u00ec cho ph\u00e9p ph\u00e1t hi\u1ec7n b\u1ec7nh s\u1edbm, gi\u1ea3m nguy c\u01a1 bi\u1ebfn ch\u1ee9ng v\u00e0 t\u1eed vong, \u0111\u1ed3ng th\u1eddi t\u0103ng c\u01a1 h\u1ed9i \u0111\u1ec3 tr\u1ebb ph\u00e1t tri\u1ec3n kh\u1ecfe m\u1ea1nh.<\/p>\n![\"R\u1ed1i](\"https:\/\/ytehoaduc.com.vn\/en\/wp-content\/uploads\/2024\/12\/Sang-loc-so-sinh-co-the-phat-hien-xo-nang-co-do-nhay-90-95cvVeC-300x225.webp\")
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X\u00e9t nghi\u1ec7m di truy\u1ec1n v\u00e0 s\u00e0ng l\u1ecdc s\u01a1 sinh t\u1ea1i Quy Nh\u01a1n gi\u00fap ph\u00e1t hi\u1ec7n s\u1edbm nguy c\u01a1 Galactosemia, h\u1ed7 tr\u1ee3 b\u00e1c s\u0129 can thi\u1ec7p k\u1ecbp th\u1eddi \u0111\u1ec3 tr\u1ebb c\u00f3 c\u01a1 h\u1ed9i ph\u00e1t tri\u1ec3n kh\u1ecfe m\u1ea1nh<\/em><\/p>\n<\/span>5. \u0110i\u1ec1u tr\u1ecb Galactosemia: Ch\u1ebf \u0110\u1ed9 \u0102n v\u00e0 L\u1eddi Khuy\u00ean T\u1eeb Chuy\u00ean Gia<\/strong><\/span><\/h2>\nHi\u1ec7n ch\u01b0a c\u00f3 thu\u1ed1c \u0111\u1eb7c hi\u1ec7u cho b\u1ec7nh Galactosemia<\/strong>, v\u00ec v\u1eady ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb ch\u1ee7 y\u1ebfu l\u00e0 lo\u1ea1i b\u1ecf ho\u00e0n to\u00e0n galactose v\u00e0 lactose kh\u1ecfi ch\u1ebf \u0111\u1ed9 \u0103n<\/strong>. Khi \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n, tr\u1ebb c\u1ea7n \u0111\u01b0\u1ee3c b\u00e1c s\u0129 dinh d\u01b0\u1ee1ng<\/strong> t\u01b0 v\u1ea5n \u0111\u1ec3 \u0111\u1ea3m b\u1ea3o v\u1eeba an to\u00e0n v\u1eeba \u0111\u1ee7 d\u01b0\u1ee1ng ch\u1ea5t.<\/p>\nTh\u1ef1c ph\u1ea9m c\u1ea7n tr\u00e1nh<\/strong> (ch\u1ee9a galactose\/lactose)<\/em>:<\/p>\n\n- \n
S\u1eefa m\u1eb9, s\u1eefa b\u00f2 v\u00e0 t\u1ea5t c\u1ea3 ch\u1ebf ph\u1ea9m t\u1eeb s\u1eefa (ph\u00f4 mai, b\u01a1, s\u1eefa chua\u2026).<\/p>\n<\/li>\n
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B\u00e1nh \u0103n d\u1eb7m, \u0111\u1ed3 u\u1ed1ng dinh d\u01b0\u1ee1ng, th\u1ef1c ph\u1ea9m ch\u1ee9c n\u0103ng c\u00f3 lactose.<\/p>\n<\/li>\n
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Th\u1ef1c ph\u1ea9m ch\u1ebf bi\u1ebfn s\u1eb5n c\u00f3 th\u00e0nh ph\u1ea7n galactose ho\u1eb7c lactose.<\/p>\n<\/li>\n<\/ul>\n
Th\u1ef1c ph\u1ea9m n\u00ean d\u00f9ng<\/strong> (kh\u00f4ng ch\u1ee9a galactose)<\/em>:<\/p>\n\n- \n
S\u1eefa c\u00f4ng th\u1ee9c t\u1eeb \u0111\u1eadu n\u00e0nh<\/strong> ho\u1eb7c s\u1eefa kh\u00f4ng ch\u1ee9a lactose<\/strong>.<\/p>\n<\/li>\n- \n
Th\u1ef1c ph\u1ea9m gi\u00e0u dinh d\u01b0\u1ee1ng, an to\u00e0n cho tr\u1ebb m\u1eafc Galactosemia<\/strong>.<\/p>\n<\/li>\n- \n
B\u1ed5 sung canxi<\/strong> v\u00e0 vi ch\u1ea5t theo h\u01b0\u1edbng d\u1eabn c\u1ee7a b\u00e1c s\u0129 \u0111\u1ec3 h\u1ed7 tr\u1ee3 ph\u00e1t tri\u1ec3n x\u01b0\u01a1ng.<\/p>\n<\/li>\n<\/ul>\nVi\u1ec7c tu\u00e2n th\u1ee7 nghi\u00eam ng\u1eb7t ch\u1ebf \u0111\u1ed9 \u0103n kh\u00f4ng ch\u1ee9a galactose gi\u00fap gi\u1ea3m nhanh n\u1ed3ng \u0111\u1ed9 \u0111\u01b0\u1eddng n\u00e0y trong m\u00e1u, b\u1ea3o v\u1ec7 gan, m\u1eaft, th\u1eadn v\u00e0 n\u00e3o, \u0111\u1ed3ng th\u1eddi c\u1ea3i thi\u1ec7n s\u1ef1 ph\u00e1t tri\u1ec3n to\u00e0n di\u1ec7n c\u1ee7a tr\u1ebb.<\/p>\n
<\/span>6. D\u1ef1 Ph\u00f2ng Galactosemia: B\u1ea3o V\u1ec7 Tr\u1ebb T\u1eeb Tr\u01b0\u1edbc Khi Ch\u00e0o \u0110\u1eddi<\/strong><\/span><\/h2>\nD\u1ef1 ph\u00f2ng galactose<\/strong> l\u00e0 gi\u1ea3i ph\u00e1p then ch\u1ed1t \u0111\u1ec3 ph\u00e1t hi\u1ec7n s\u1edbm v\u00e0 ng\u0103n bi\u1ebfn ch\u1ee9ng nghi\u00eam tr\u1ecdng. C\u1ea7n th\u1ef1c hi\u1ec7n \u1edf c\u1ea3 tr\u01b0\u1edbc sinh<\/strong> v\u00e0 sau sinh<\/strong>.<\/p>\nTr\u01b0\u1edbc sinh<\/strong>:<\/p>\n\n- \n
T\u01b0 v\u1ea5n di truy\u1ec1n<\/strong> cho gia \u0111\u00ecnh c\u00f3 ti\u1ec1n s\u1eed Galactosemia \u0111\u1ec3 \u0111\u00e1nh gi\u00e1 nguy c\u01a1 di truy\u1ec1n v\u00e0 l\u1eadp k\u1ebf ho\u1ea1ch sinh con an to\u00e0n.<\/p>\n<\/li>\n- \n
X\u00e9t nghi\u1ec7m gen<\/strong> (GALT, GALK, GALE) nh\u1eb1m x\u00e1c \u0111\u1ecbnh ng\u01b0\u1eddi mang gen b\u1ec7nh; n\u1ebfu c\u1ea3 b\u1ed1 v\u00e0 m\u1eb9 c\u00f9ng mang gen l\u1eb7n, nguy c\u01a1 con m\u1eafc b\u1ec7nh cao v\u00e0 c\u1ea7n \u0111\u01b0\u1ee3c theo d\u00f5i thai k\u1ef3 \u0111\u1eb7c bi\u1ec7t.<\/p>\n<\/li>\n<\/ul>\nSau sinh<\/strong>:<\/p>\n\n- \n
S\u00e0ng l\u1ecdc s\u01a1 sinh<\/strong> (m\u00e1u g\u00f3t ch\u00e2n 24\u201372 gi\u1edd) \u0111\u1ec3 ph\u00e1t hi\u1ec7n b\u1ec7nh ngay khi ch\u01b0a xu\u1ea5t hi\u1ec7n tri\u1ec7u ch\u1ee9ng<\/strong>, cho ph\u00e9p can thi\u1ec7p s\u1edbm v\u00e0 h\u1ea1n ch\u1ebf t\u1ed5n th\u01b0\u01a1ng gan, m\u1eaft, th\u1eadn, n\u00e3o.<\/p>\n<\/li>\n- \n
Ki\u1ec3m so\u00e1t ch\u1ebf \u0111\u1ed9 \u0103n<\/strong>: lo\u1ea1i b\u1ecf tri\u1ec7t \u0111\u1ec3 th\u1ef1c ph\u1ea9m ch\u1ee9a galactose\/lactose nh\u1eb1m ng\u0103n t\u00edch t\u1ee5 \u0111\u1ed9c ch\u1ea5t.<\/p>\n<\/li>\n- \n
Theo d\u00f5i \u0111\u1ecbnh k\u1ef3<\/strong> ch\u1ee9c n\u0103ng gan, th\u1eadn, m\u1eaft v\u00e0 s\u1ef1 ph\u00e1t tri\u1ec3n th\u1ec3 ch\u1ea5t \u2013 tr\u00ed tu\u1ec7 \u0111\u1ec3 k\u1ecbp th\u1eddi \u0111i\u1ec1u ch\u1ec9nh ch\u1ebf \u0111\u1ed9 ch\u0103m s\u00f3c.<\/p>\n<\/li>\n<\/ul>\nD\u1ef1 ph\u00f2ng to\u00e0n di\u1ec7n tr\u01b0\u1edbc v\u00e0 sau sinh gi\u00fap gi\u1ea3m nguy c\u01a1 suy gan, \u0111\u1ee5c th\u1ee7y tinh th\u1ec3, ch\u1eadm ph\u00e1t tri\u1ec3n v\u00e0 \u0111\u1ea3m b\u1ea3o tr\u1ebb c\u00f3 c\u01a1 h\u1ed9i l\u1edbn l\u00ean kh\u1ecfe m\u1ea1nh.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/article>\n
<\/span>7. X\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc b\u1ec7nh Galactosemia \u1edf tr\u1ebb s\u01a1 sinh l\u00e0 g\u00ec?<\/span><\/h2>\nX\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc b\u1ec7nh Galactosemia \u1edf tr\u1ebb s\u01a1 sinh l\u00e0 ph\u01b0\u01a1ng ph\u00e1p s\u00e0ng l\u1ecdc quan tr\u1ecdng \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n t\u1eeb 2 \u2013 7 ng\u00e0y tu\u1ed5i<\/strong> \u0111\u1ec3 ph\u00e1t hi\u1ec7n s\u1edbm c\u00e1c b\u1ec7nh l\u00fd b\u1ea9m sinh. V\u1edbi tr\u1ebb sinh non, x\u00e9t nghi\u1ec7m c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n tr\u01b0\u1edbc 20 ng\u00e0y tu\u1ed5i<\/strong>, v\u00e0 n\u1ebfu tr\u1ebb c\u1ea7n truy\u1ec1n m\u00e1u, m\u1eabu c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c l\u1ea5y khi tr\u1ebb 30 ng\u00e0y tu\u1ed5i<\/strong>.<\/p>\n![\"R\u1ed1i](\"https:\/\/ytehoaduc.com.vn\/en\/wp-content\/uploads\/2024\/12\/Xet-nghiem-sang-loc-so-sinhemdmM-300x225.webp\")
<\/p>\n
L\u1ea5y m\u1eabu m\u00e1u g\u00f3t ch\u00e2n s\u00e0ng l\u1ecdc Galactosemia cho tr\u1ebb s\u01a1 sinh t\u1ea1i Quy Nh\u01a1n \u2013 ph\u01b0\u01a1ng ph\u00e1p ph\u00e1t hi\u1ec7n s\u1edbm r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a b\u1ea9m sinh, gi\u00fap tr\u1ebb \u0111\u01b0\u1ee3c can thi\u1ec7p v\u00e0 \u0111i\u1ec1u tr\u1ecb k\u1ecbp th\u1eddi<\/em><\/p>\nVi\u1ec7c l\u1ea5y m\u1eabu m\u00e1u g\u00f3t ch\u00e2n kh\u00f4ng ch\u1ec9 gi\u00fap ch\u1ea9n \u0111o\u00e1n b\u1ec7nh Galactosemia<\/strong> m\u00e0 c\u00f2n ph\u00e1t hi\u1ec7n nhi\u1ec1u r\u1ed1i lo\u1ea1n b\u1ea9m sinh nguy hi\u1ec3m kh\u00e1c. \u0110\u1ec3 x\u00e9t nghi\u1ec7m \u0111\u1ea1t \u0111\u1ed9 ch\u00ednh x\u00e1c cao, ph\u1ee5 huynh n\u00ean l\u1ef1a ch\u1ecdn c\u00e1c c\u01a1 s\u1edf y t\u1ebf uy t\u00edn, c\u00f3 quy tr\u00ecnh l\u1ea5y m\u1eabu v\u00e0 ph\u00e2n t\u00edch \u0111\u1ea1t chu\u1ea9n. Quy tr\u00ecnh x\u00e9t nghi\u1ec7m l\u1ea5y m\u00e1u g\u00f3t ch\u00e2n bao g\u1ed3m vi\u1ec7c ch\u00edch g\u00f3t ch\u00e2n<\/strong> c\u1ee7a b\u00e9, sau \u0111\u00f3 nh\u1ecf v\u00e0i gi\u1ecdt m\u00e1u l\u00ean gi\u1ea5y l\u1ecdc<\/strong>, \u0111\u1ec3 kh\u00f4 v\u00e0 chuy\u1ec3n \u0111\u1ebfn c\u00e1c trung t\u00e2m y t\u1ebf ho\u1eb7c b\u1ec7nh vi\u1ec7n \u0111\u1ec3 ph\u00e2n t\u00edch.<\/p>\nT\u1ea1i Quy Nh\u01a1n, qu\u00fd ph\u1ee5 huynh c\u00f3 th\u1ec3 \u0111\u01b0a tr\u1ebb \u0111\u1ebfn Trung t\u00e2m X\u00e9t nghi\u1ec7m \u2013 Gi\u1ea3i ph\u1eabu b\u1ec7nh \u2013 T\u1ebf b\u00e0o h\u1ecdc H\u00f2a \u0110\u1ee9c \u0111\u1ec3 \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n x\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc Galactosemia c\u0169ng nh\u01b0 s\u00e0ng l\u1ecdc s\u01a1 sinh 5 b\u1ec7nh an to\u00e0n, ch\u00ednh x\u00e1c.<\/p>\n
<\/span>G\u00d3I X\u00c9T NGHI\u1ec6M S\u00c0NG L\u1eccC S\u01a0 SINH T\u1ea0I TRUNG T\u00c2M X\u00c9T NGHI\u1ec6M – GI\u1ea2I PH\u1eaaU B\u1ec6NH – T\u1ebe B\u00c0O H\u1eccC H\u00d2A \u0110\u1ee8C<\/strong><\/span><\/h2>\n