{"id":13655,"date":"2025-09-12T16:24:00","date_gmt":"2025-09-12T23:24:00","guid":{"rendered":"https:\/\/ameripharmainfusioncenter.com\/?p=13655"},"modified":"2025-09-12T16:24:01","modified_gmt":"2025-09-12T23:24:01","slug":"mps-i-and-mps-ii-symptoms-causes-and-early-warning-signs","status":"publish","type":"post","link":"https:\/\/ameripharmainfusioncenter.com\/vi\/mps-i-and-mps-ii-symptoms-causes-and-early-warning-signs\/","title":{"rendered":"MPS I v\u00e0 MPS II: Tri\u1ec7u ch\u1ee9ng, Nguy\u00ean nh\u00e2n v\u00e0 D\u1ea5u hi\u1ec7u C\u1ea3nh b\u00e1o S\u1edbm"},"content":{"rendered":"<p>N\u1ebfu b\u1ea1n nh\u1eadn th\u1ea5y con m\u00ecnh c\u1eed \u0111\u1ed9ng h\u01a1i c\u1ee9ng, hay \u1ed1m v\u1eb7t h\u01a1n b\u00ecnh th\u01b0\u1eddng, ho\u1eb7c b\u1ee5ng tr\u00f2n h\u01a1n b\u00ecnh th\u01b0\u1eddng, b\u1ea1n c\u00f3 th\u1ec3 ngh\u0129 r\u1eb1ng \u0111\u00f3 ch\u1ec9 l\u00e0 m\u1ed9t ph\u1ea7n c\u1ee7a qu\u00e1 tr\u00ecnh ph\u00e1t tri\u1ec3n. Nh\u01b0ng \u0111\u00f4i khi, nh\u1eefng thay \u0111\u1ed5i nh\u1ecf n\u00e0y c\u00f3 th\u1ec3 l\u00e0 d\u1ea5u hi\u1ec7u s\u1edbm c\u1ee7a m\u1ed9t t\u00ecnh tr\u1ea1ng di truy\u1ec1n hi\u1ebfm g\u1eb7p g\u1ecdi l\u00e0 b\u1ec7nh mucopolysaccharidosis, hay MPS. B\u1ec7nh mucopolysaccharidosis lo\u1ea1i I (MPS I) v\u00e0 b\u1ec7nh mucopolysaccharidosis lo\u1ea1i II (MPS II) l\u00e0 hai d\u1ea1ng b\u1ec7nh th\u01b0\u1eddng g\u1eb7p nh\u1ea5t.&nbsp;<\/p>\n\n\n\n<p>C\u1ea3 hai d\u1ea1ng MPS \u0111\u1ec1u g\u00e2y ra s\u1ef1 t\u00edch t\u1ee5 \u0111\u01b0\u1eddng ph\u1ee9c t\u1ea1p do thi\u1ebfu h\u1ee5t enzyme, nh\u01b0ng m\u1ed7i d\u1ea1ng l\u1ea1i c\u00f3 nguy\u00ean nh\u00e2n kh\u00e1c nhau. S\u1ef1 t\u00edch t\u1ee5 \u0111\u01b0\u1eddng \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn c\u00e1c b\u1ed9 ph\u1eadn kh\u00e1c nhau c\u1ee7a c\u01a1 th\u1ec3, t\u1eeb kh\u1edbp v\u00e0 c\u00e1c \u0111\u1eb7c \u0111i\u1ec3m tr\u00ean khu\u00f4n m\u1eb7t \u0111\u1ebfn tim v\u00e0 n\u00e3o.&nbsp;<\/p>\n\n\n\n<p>\u0110\u1ecdc ti\u1ebfp \u0111\u1ec3 t\u00ecm hi\u1ec3u th\u00eam v\u1ec1 b\u1ec7nh mucopolysaccharidosis (MPS)<strong> <\/strong>l\u00e0 c\u00e1c ph\u00e2n nh\u00f3m c\u1ee7a n\u00f3 (MPS I v\u00e0 MPS II), s\u1ef1 kh\u00e1c bi\u1ec7t gi\u1eefa hai lo\u1ea1i n\u00e0y v\u00e0 nh\u1eefng \u0111i\u1ec3m t\u01b0\u01a1ng \u0111\u1ed3ng c\u1ee7a ch\u00fang.&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>B\u1ec7nh Mucopolysaccharidosis (MPS): T\u1ed5ng quan<\/strong><\/h2>\n\n\n\n<p>B\u1ec7nh mucopolysaccharidosis (MPS) l\u00e0 m\u1ed9t nh\u00f3m c\u00e1c r\u1ed1i lo\u1ea1n chuy\u1ec3n h\u00f3a di truy\u1ec1n hi\u1ebfm g\u1eb7p do khi\u1ebfm khuy\u1ebft di truy\u1ec1n. Nh\u1eefng r\u1ed1i lo\u1ea1n n\u00e0y x\u1ea3y ra khi c\u01a1 th\u1ec3 kh\u00f4ng ph\u00e2n h\u1ee7y (ti\u00eau h\u00f3a) \u0111\u00fang c\u00e1ch c\u00e1c ph\u00e2n t\u1eed \u0111\u01b0\u1eddng ph\u1ee9c t\u1ea1p, c\u00f2n \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 mucopolysaccharid ho\u1eb7c <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK544295\/#:~:text=Introduction,vast%20amount%20of%20biochemical%20processes.\">glycosaminoglycan<\/a> (GAG).&nbsp;<\/p>\n\n\n\n<p>Th\u00f4ng th\u01b0\u1eddng, GAG gi\u00fap x\u00e2y d\u1ef1ng x\u01b0\u01a1ng, g\u00e2n, s\u1ee5n, gi\u00e1c m\u1ea1c, da v\u00e0 m\u00f4 li\u00ean k\u1ebft. Ch\u00fang c\u0169ng \u0111\u01b0\u1ee3c t\u00ecm th\u1ea5y trong d\u1ecbch b\u00f4i tr\u01a1n c\u00e1c kh\u1edbp. C\u00e1c ph\u00e2n t\u1eed \u0111\u01b0\u1eddng ph\u1ee9c t\u1ea1p n\u00e0y \u0111\u01b0\u1ee3c t\u00e1i ch\u1ebf v\u00e0 ph\u00e2n h\u1ee7y b\u00ean trong t\u1ebf b\u00e0o th\u00f4ng qua m\u1ed9t qu\u00e1 tr\u00ecnh g\u1ed3m 11 b\u01b0\u1edbc; m\u1ed7i b\u01b0\u1edbc c\u00f3 m\u1ed9t enzyme chuy\u00ean bi\u1ec7t gi\u00fap ph\u00e2n h\u1ee7y c\u00e1c ph\u00e2n t\u1eed \u0111\u01b0\u1eddng ph\u1ee9c t\u1ea1p n\u00e0y.&nbsp;<\/p>\n\n\n\n<p>Tuy nhi\u00ean, trong b\u1ec7nh MPS, m\u1ed9t trong c\u00e1c enzyme b\u1ecb thi\u1ebfu ho\u1eb7c b\u1ecb r\u1ed1i lo\u1ea1n ch\u1ee9c n\u0103ng, d\u1eabn \u0111\u1ebfn vi\u1ec7c kh\u00f4ng th\u1ec3 ph\u00e2n h\u1ee7y GAG. Theo th\u1eddi gian, GAG b\u1eaft \u0111\u1ea7u t\u00edch t\u1ee5 trong m\u00e1u, n\u00e3o, t\u1ee7y s\u1ed1ng v\u00e0 c\u00e1c m\u00f4 li\u00ean k\u1ebft.&nbsp;<\/p>\n\n\n\n<p>S\u1ef1 t\u00edch t\u1ee5 GAG trong t\u1ebf b\u00e0o g\u00e2y ra t\u1ed5n th\u01b0\u01a1ng t\u1ebf b\u00e0o v\u0129nh vi\u1ec5n, ti\u1ebfn tri\u1ec3n, \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn ngo\u1ea1i h\u00ecnh, kh\u1ea3 n\u0103ng th\u1ec3 ch\u1ea5t, ch\u1ee9c n\u0103ng c\u1ee7a c\u00e1c c\u01a1 quan v\u00e0 h\u1ec7 th\u1ed1ng, v\u00e0 trong h\u1ea7u h\u1ebft c\u00e1c tr\u01b0\u1eddng h\u1ee3p l\u00e0 s\u1ef1 ph\u00e1t tri\u1ec3n nh\u1eadn th\u1ee9c c\u1ee7a con ng\u01b0\u1eddi.&nbsp;<\/p>\n\n\n\n<p>H\u01a1n n\u1eefa, gi\u1ed1ng nh\u01b0 <a href=\"https:\/\/ameripharmainfusioncenter.com\/vi\/pompe-disease-causes-symptoms-diagnosis-and-treatment\/\">B\u1ec7nh Pompe<\/a>, MPS c\u0169ng \u0111\u01b0\u1ee3c ph\u00e2n lo\u1ea1i trong m\u1ed9t nh\u00f3m l\u1edbn h\u01a1n c\u00e1c r\u1ed1i lo\u1ea1n \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK563270\/\">b\u1ec7nh t\u00edch tr\u1eef lysosome (LSD)<\/a>, trong \u0111\u00f3 <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK9953\/#:~:text=Lysosomes%20are%20membrane%2Denclosed%20organelles,acids%2C%20carbohydrates%2C%20and%20lipids.\">lysosome<\/a> (c\u00e1c trung t\u00e2m ti\u00eau h\u00f3a v\u00e0 t\u00e1i ch\u1ebf nh\u1ecf b\u00ean trong t\u1ebf b\u00e0o) thi\u1ebfu c\u00e1c enzyme c\u1ee5 th\u1ec3 c\u1ea7n thi\u1ebft trong qu\u00e1 tr\u00ecnh ph\u00e2n h\u1ee7y c\u00e1c ph\u00e2n t\u1eed ph\u1ee9c t\u1ea1p nh\u01b0 \u0111\u01b0\u1eddng (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK539802\/#:~:text=Glycogen%20is%20an%20extensively%20branched,the%20most%20glycogen%20by%20weight.\">glycogen<\/a> ho\u1eb7c glycosaminoglycan), ch\u1ea5t b\u00e9o v\u00e0 protein th\u00e0nh c\u00e1c th\u00e0nh ph\u1ea7n nh\u1ecf h\u01a1n c\u00f3 th\u1ec3 s\u1eed d\u1ee5ng \u0111\u01b0\u1ee3c.&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>C\u00e1c lo\u1ea1i b\u1ec7nh Mucopolysaccharidoses (MPS)<\/strong><\/h2>\n\n\n\n<p>MPS c\u00f3 b\u1ea3y lo\u1ea1i kh\u00e1c nhau, m\u1ed7i lo\u1ea1i li\u00ean quan \u0111\u1ebfn lo\u1ea1i enzyme b\u1ecb thi\u1ebfu. Ch\u00fang ta s\u1ebd ch\u1ec9 t\u1eadp trung v\u00e0o MPS I v\u00e0 MPS II.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>B\u1ec7nh Mucopolysaccharidosis lo\u1ea1i I (MPS I)<\/strong><\/li>\n<\/ul>\n\n\n\n<p>B\u1ec7nh MPS I, hay c\u00f2n g\u1ecdi l\u00e0 b\u1ec7nh Mucopolysaccharidosis lo\u1ea1i I, l\u00e0 m\u1ed9t r\u1ed1i lo\u1ea1n \u0111a h\u1ec7 th\u1ed1ng, c\u00f3 ngh\u0129a l\u00e0 d\u1ea1ng b\u1ec7nh n\u00e0y \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn nhi\u1ec1u b\u1ed9 ph\u1eadn c\u1ee7a c\u01a1 th\u1ec3. MPS I l\u00e0 do thi\u1ebfu h\u1ee5t alpha-L-iduronidase.<em> <\/em>(IDUA) enzyme ph\u00e2n h\u1ee7y <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK544295\/#:~:text=Introduction,vast%20amount%20of%20biochemical%20processes.\">dermatan sulphate v\u00e0 heparan sulphate<\/a> (c\u00e1c lo\u1ea1i GAG) b\u00ean trong lysosome.&nbsp;<\/p>\n\n\n\n<p>N\u1ebfu kh\u00f4ng c\u00f3 enzyme IDUA, dermatan sulphate v\u00e0 heparan sulphate s\u1ebd t\u00edch t\u1ee5 b\u00ean trong t\u1ebf b\u00e0o, g\u00e2y ra c\u00e1c tri\u1ec7u ch\u1ee9ng c\u1ee7a b\u1ec7nh MPS I.&nbsp;<\/p>\n\n\n\n<p>D\u1ef1a tr\u00ean m\u1ee9c \u0111\u1ed9 nghi\u00eam tr\u1ecdng c\u1ee7a c\u00e1c tri\u1ec7u ch\u1ee9ng, MPS I \u0111\u01b0\u1ee3c ph\u00e2n lo\u1ea1i th\u00e0nh ba ph\u00e2n nh\u00f3m:<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>H\u1ed9i ch\u1ee9ng Hurler <\/strong>(MPS IH): \u0110\u00e2y l\u00e0 d\u1ea1ng nghi\u00eam tr\u1ecdng nh\u1ea5t th\u01b0\u1eddng x\u1ea3y ra \u1edf tr\u1ebb s\u01a1 sinh.<\/li>\n\n\n\n<li><strong>H\u1ed9i ch\u1ee9ng Hurler\u2013Scheie<\/strong> (MPS IH\/S): \u0110\u00e2y l\u00e0 d\u1ea1ng b\u1ec7nh \u1edf m\u1ee9c \u0111\u1ed9 trung b\u00ecnh, c\u00e1c tri\u1ec7u ch\u1ee9ng xu\u1ea5t hi\u1ec7n r\u00f5 r\u00e0ng \u1edf \u0111\u1ed9 tu\u1ed5i t\u1eeb 3 \u0111\u1ebfn 6.\u00a0<\/li>\n\n\n\n<li><strong>H\u1ed9i ch\u1ee9ng Scheie<\/strong> (MPS IS): \u0110\u00e2y l\u00e0 d\u1ea1ng nh\u1eb9 nh\u1ea5t, c\u00e1c tri\u1ec7u ch\u1ee9ng xu\u1ea5t hi\u1ec7n khi tr\u1ebb kho\u1ea3ng 5 tu\u1ed5i.\u00a0<\/li>\n<\/ol>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>B\u1ec7nh Mucopolysaccharidosis lo\u1ea1i II (MPS II)<\/strong><\/li>\n<\/ul>\n\n\n\n<p>B\u1ec7nh Mucopolysaccharidosis lo\u1ea1i II (MPS II), c\u00f2n \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 h\u1ed9i ch\u1ee9ng Hunter, l\u00e0 do thi\u1ebfu h\u1ee5t enzyme iduronate-2-sulfatase (I2S). Enzyme n\u00e0y kh\u00f4ng ch\u1ec9 h\u1ed7 tr\u1ee3 ph\u00e2n h\u1ee7y GAG (t\u1ee9c l\u00e0 dermatan sulfat v\u00e0 heparan sulfat), m\u00e0 c\u00f2n lo\u1ea1i b\u1ecf nh\u00f3m sulfate kh\u1ecfi \u0111\u01b0\u1eddng axit iduronic tr\u01b0\u1edbc khi c\u00e1c b\u01b0\u1edbc ph\u00e2n h\u1ee7y ti\u1ebfp theo c\u00f3 th\u1ec3 x\u1ea3y ra.&nbsp;<\/p>\n\n\n\n<p>Tuy nhi\u00ean, thi\u1ebfu iduronate-2-sulfatase<em> <\/em>enzyme n\u00e0y g\u00e2y ra s\u1ef1 t\u00edch t\u1ee5 dermatan sulfat v\u00e0 heparan sulfat trong t\u1ebf b\u00e0o, d\u1eabn \u0111\u1ebfn c\u00e1c tri\u1ec7u ch\u1ee9ng t\u01b0\u01a1ng t\u1ef1 nh\u01b0 MPS I.&nbsp;<\/p>\n\n\n\n<p>H\u1ed9i ch\u1ee9ng Hunter (MPS II) c\u00f3 th\u1ec3 nh\u1eb9 ho\u1eb7c n\u1eb7ng, v\u1edbi c\u00e1c tri\u1ec7u ch\u1ee9ng \u0111\u1ea7u ti\u00ean xu\u1ea5t hi\u1ec7n \u1edf \u0111\u1ed9 tu\u1ed5i t\u1eeb 2 \u0111\u1ebfn 4.&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Tri\u1ec7u ch\u1ee9ng v\u00e0 d\u1ea5u hi\u1ec7u s\u1edbm <\/strong><\/h2>\n\n\n\n<p>C\u00e1c d\u1ea5u hi\u1ec7u v\u00e0 tri\u1ec7u ch\u1ee9ng ban \u0111\u1ea7u c\u1ee7a MPS I v\u00e0 II c\u00f3 th\u1ec3 tr\u00f9ng l\u1eb7p, nh\u01b0ng c\u00e1c tri\u1ec7u ch\u1ee9ng ch\u00ednh x\u00e1c c\u00f3 th\u1ec3 kh\u00e1c nhau t\u00f9y thu\u1ed9c v\u00e0o lo\u1ea1i v\u00e0 m\u1ee9c \u0111\u1ed9 nghi\u00eam tr\u1ecdng. M\u1ed9t s\u1ed1 tri\u1ec7u ch\u1ee9ng l\u00e2m s\u00e0ng ch\u00ednh c\u1ee7a MPS I v\u00e0 II bao g\u1ed3m:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Gi\u00e1c m\u1ea1c b\u1ecb \u0111\u1ee5c (nh\u01b0ng kh\u00f4ng ph\u1ea3i \u1edf MPS II)<\/li>\n\n\n\n<li>R\u1ed1i lo\u1ea1n ch\u1ee9c n\u0103ng x\u01b0\u01a1ng, ch\u1eb3ng h\u1ea1n nh\u01b0 c\u1ee9ng kh\u1edbp<\/li>\n\n\n\n<li>C\u00e1c \u0111\u1eb7c \u0111i\u1ec3m tr\u00ean khu\u00f4n m\u1eb7t th\u00f4, nh\u01b0 m\u0169i r\u1ed9ng h\u01a1n, m\u00f4i d\u00e0y v\u00e0 l\u01b0\u1ee1i to h\u01a1n theo th\u1eddi gian<\/li>\n\n\n\n<li>T\u00f3c th\u00f4<\/li>\n\n\n\n<li>Khuy\u1ebft t\u1eadt tr\u00ed tu\u1ec7 (c\u00f3 th\u1ec3 nghi\u00eam tr\u1ecdng \u1edf MPS II)<\/li>\n\n\n\n<li>C\u00e1c v\u1ea5n \u0111\u1ec1 v\u1ec1 tim<\/li>\n\n\n\n<li>M\u1ea5t th\u00ednh l\u1ef1c (tr\u1edf n\u00ean t\u1ec7 h\u01a1n theo th\u1eddi gian trong tr\u01b0\u1eddng h\u1ee3p m\u1eafc MPS II)<\/li>\n\n\n\n<li>Suy gi\u1ea3m th\u1ecb l\u1ef1c<\/li>\n\n\n\n<li>Tho\u00e1t v\u1ecb b\u1eb9n v\u00e0 r\u1ed1n<\/li>\n\n\n\n<li>Ng\u01b0ng th\u1edf khi ng\u1ee7<\/li>\n\n\n\n<li>Gan l\u00e1ch to (gan v\u00e0 l\u00e1ch to, khi\u1ebfn b\u1ee5ng tr\u00f4ng tr\u00f2n)<\/li>\n\n\n\n<li>S\u1ef1 t\u00edch t\u1ee5 ch\u1ea5t l\u1ecfng trong n\u00e3o<\/li>\n\n\n\n<li>H\u1ed9i ch\u1ee9ng \u1ed1ng c\u1ed5 tay<\/li>\n\n\n\n<li>B\u1ec7nh tim v\u00e0 h\u00f4 h\u1ea5p<\/li>\n<\/ul>\n\n\n\n<p>\u1ede d\u1ea1ng n\u1eb7ng, b\u1ec7nh nh\u00e2n c\u0169ng c\u00f3 th\u1ec3 g\u1eb7p ph\u1ea3i:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Ch\u1eadm ph\u00e1t tri\u1ec3n (nh\u1eb9 trong tr\u01b0\u1eddng h\u1ee3p MPS II)<\/li>\n\n\n\n<li>Nh\u1eefng th\u00e1ch th\u1ee9c v\u1ec1 h\u00e0nh vi (v\u00ed d\u1ee5, t\u0103ng \u0111\u1ed9ng, hung h\u0103ng ho\u1eb7c lo l\u1eafng)<\/li>\n<\/ul>\n\n\n\n<div style=\"height:22px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/09\/consultation-1.jpg\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"682\" src=\"https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/09\/consultation-1-1024x682.jpg\" alt=\"Doctor consulting with parent and child about MPS\" class=\"wp-image-13659\" srcset=\"https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/09\/consultation-1-1024x682.jpg 1024w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/09\/consultation-1-300x200.jpg 300w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/09\/consultation-1-768x512.jpg 768w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/09\/consultation-1-18x12.jpg 18w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/09\/consultation-1-600x400.jpg 600w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/09\/consultation-1-330x220.jpg 330w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/09\/consultation-1-86x57.jpg 86w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/09\/consultation-1-167x111.jpg 167w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/09\/consultation-1-280x187.jpg 280w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/09\/consultation-1-370x247.jpg 370w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/09\/consultation-1-960x640.jpg 960w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/09\/consultation-1.jpg 1280w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/a><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Nguy\u00ean nh\u00e2n v\u00e0 m\u00f4 h\u00ecnh di truy\u1ec1n \u1edf MPS I v\u00e0 MPS II<\/strong><\/h2>\n\n\n\n<p>MPS I v\u00e0 II kh\u00e1c nhau v\u1ec1 nguy\u00ean nh\u00e2n v\u00e0 m\u00f4 h\u00ecnh di truy\u1ec1n.\u00a0<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>G\u00e2y ra<\/strong><\/li>\n<\/ul>\n\n\n\n<p>\u0110\u1ed9t bi\u1ebfn (thay \u0111\u1ed5i) \u1edf m\u1ed9t gen c\u1ee5 th\u1ec3 t\u1ea1o ra enzyme l\u00e0 nguy\u00ean nh\u00e2n g\u00e2y ra MPS. Tuy nhi\u00ean, hai lo\u1ea1i MPS kh\u00e1c nhau \u1edf gen b\u1ecb \u1ea3nh h\u01b0\u1edfng. MPS I \u0111\u1eb7c tr\u01b0ng b\u1edfi \u0111\u1ed9t bi\u1ebfn \u1edf gen IDUA, gen t\u1ea1o ra enzyme alpha-L-iduronidase (IDUA). Nh\u01b0ng \u1edf MPS II, \u0111\u1ed9t bi\u1ebfn x\u1ea3y ra \u1edf gen IDS, gen t\u1ea1o ra enzyme iduronate 2-sulfatase (I2S).<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>M\u1eabu k\u1ebf th\u1eeba<\/strong><\/li>\n<\/ul>\n\n\n\n<p>M\u00f4 h\u00ecnh di truy\u1ec1n l\u00e0 m\u1ed9t \u0111i\u1ec3m kh\u00e1c bi\u1ec7t \u0111\u00e1ng k\u1ec3 gi\u1eefa MPS I v\u00e0 MPS II.&nbsp;<\/p>\n\n\n\n<p>B\u1ec7nh MPS I \u0111\u01b0\u1ee3c di truy\u1ec1n theo ki\u1ec3u l\u1eb7n tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 th\u01b0\u1eddng, ngh\u0129a l\u00e0 c\u1ea3 cha v\u00e0 m\u1eb9 \u0111\u1ec1u ph\u1ea3i truy\u1ec1n gen IDUA b\u1ecb l\u1ed7i ho\u1eb7c \u0111\u1ed9t bi\u1ebfn th\u00ec tr\u1ebb m\u1edbi b\u1ecb \u1ea3nh h\u01b0\u1edfng.<\/p>\n\n\n\n<p>M\u1eb7t kh\u00e1c, MPS II \u0111\u01b0\u1ee3c di truy\u1ec1n theo ki\u1ec3u li\u00ean k\u1ebft X, ngh\u0129a l\u00e0 gen IDS \u0111\u1ed9t bi\u1ebfn n\u1eb1m tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 X. Ki\u1ec3u di truy\u1ec1n n\u00e0y ch\u1ee7 y\u1ebfu \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn nam gi\u1edbi v\u00ec h\u1ecd ch\u1ec9 c\u00f3 m\u1ed9t nhi\u1ec5m s\u1eafc th\u1ec3 X, m\u1eb7c d\u00f9 ph\u1ee5 n\u1eef c\u00f3 th\u1ec3 l\u00e0 ng\u01b0\u1eddi mang gen v\u00e0 c\u00f3 th\u1ec3 bi\u1ec3u hi\u1ec7n c\u00e1c tri\u1ec7u ch\u1ee9ng nh\u1eb9 trong m\u1ed9t s\u1ed1 tr\u01b0\u1eddng h\u1ee3p hi\u1ebfm g\u1eb7p.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>T\u1ef7 l\u1ec7 m\u1eafc b\u1ec7nh: D\u00e2n s\u1ed1 b\u1ecb \u1ea3nh h\u01b0\u1edfng<\/strong><\/h2>\n\n\n\n<p>D\u1ea1ng nghi\u00eam tr\u1ecdng c\u1ee7a MPS I (h\u1ed9i ch\u1ee9ng Hurler) \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn kho\u1ea3ng <a href=\"https:\/\/rarediseases.org\/rare-diseases\/mucopolysaccharidosis-type-i\/\">1 trong 100.000 tr\u1ebb s\u01a1 sinh<\/a>, trong khi d\u1ea1ng \u00edt nghi\u00eam tr\u1ecdng h\u01a1n th\u00ec hi\u1ebfm g\u1eb7p v\u00e0 \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn <a href=\"https:\/\/rarediseases.org\/rare-diseases\/mucopolysaccharidosis-type-i\/\">kho\u1ea3ng 1 trong 500.000 tr\u1ebb s\u01a1 sinh<\/a>.&nbsp;<\/p>\n\n\n\n<p>H\u1ed9i ch\u1ee9ng MPS II ho\u1eb7c Hunter r\u1ea5t hi\u1ebfm v\u00e0 ch\u1ec9 \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn kho\u1ea3ng <a href=\"https:\/\/rarediseases.org\/rare-diseases\/mucopolysaccharidosis-type-ii-2\/\">1 trong s\u1ed1 100.000 \u0111\u1ebfn 170.000 tr\u1ebb em trai<\/a>.&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Ch\u1ea9n \u0111o\u00e1n v\u00e0 x\u00e9t nghi\u1ec7m MPS I v\u00e0 MPS II<\/strong><\/h2>\n\n\n\n<p>C\u00e1c nh\u00e0 cung c\u1ea5p d\u1ecbch v\u1ee5 ch\u0103m s\u00f3c s\u1ee9c kh\u1ecfe th\u1ef1c hi\u1ec7n c\u00e1c quy tr\u00ecnh ch\u1ea9n \u0111o\u00e1n ho\u1eb7c x\u00e9t nghi\u1ec7m \u0111\u1ec3 x\u00e1c nh\u1eadn ch\u1ea9n \u0111o\u00e1n MPS I v\u00e0 II. \u0110i\u1ec1u n\u00e0y bao g\u1ed3m:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Kh\u00e1m l\u00e2m s\u00e0ng: <\/strong>Nh\u00e0 cung c\u1ea5p d\u1ecbch v\u1ee5 ch\u0103m s\u00f3c s\u1ee9c kh\u1ecfe s\u1ebd t\u00ecm ki\u1ebfm c\u00e1c d\u1ea5u hi\u1ec7u nh\u01b0 gan\/l\u00e1 l\u00e1ch to, c\u1ee9ng kh\u1edbp ho\u1eb7c c\u00e1c \u0111\u1eb7c \u0111i\u1ec3m \u0111\u1eb7c tr\u01b0ng tr\u00ean khu\u00f4n m\u1eb7t.<\/li>\n\n\n\n<li><strong>X\u00e9t nghi\u1ec7m n\u01b0\u1edbc ti\u1ec3u: <\/strong>\u0110\u1ec3 ki\u1ec3m tra m\u1ee9c \u0111\u1ed9 GAG cao b\u1ea5t th\u01b0\u1eddng (t\u1ee9c l\u00e0,<strong>\u00a0<\/strong>heparin v\u00e0 dermatan sulfat) trong n\u01b0\u1edbc ti\u1ec3u.\u00a0<\/li>\n\n\n\n<li><strong>X\u00e9t nghi\u1ec7m enzyme<\/strong>:X\u00e9t nghi\u1ec7m m\u00e1u ho\u1eb7c da gi\u00fap ki\u1ec3m tra m\u1ee9c \u0111\u1ed9 ho\u1ea1t \u0111\u1ed9ng c\u1ee7a enzyme (IDUA ho\u1eb7c I2S).<\/li>\n\n\n\n<li><strong>X\u00e9t nghi\u1ec7m di truy\u1ec1n<\/strong>: Ph\u00e2n t\u00edch di truy\u1ec1n ph\u00e2n t\u1eed gi\u00fap x\u00e1c \u0111\u1ecbnh nh\u1eefng thay \u0111\u1ed5i (\u0111\u1ed9t bi\u1ebfn) trong gen \u0111\u1ec3 x\u00e1c nh\u1eadn ch\u1ea9n \u0111o\u00e1n.\u00a0<\/li>\n<\/ul>\n\n\n\n<p>\u1ede m\u1ed9t s\u1ed1 qu\u1ed1c gia, bao g\u1ed3m c\u1ea3 Hoa K\u1ef3, s\u00e0ng l\u1ecdc s\u01a1 sinh m\u1eafc MPS I \u0111\u00e3 \u0111\u01b0\u1ee3c ph\u00ea duy\u1ec7t g\u1ea7n \u0111\u00e2y. \u0110i\u1ec1u n\u00e0y s\u1ebd cho ph\u00e9p ch\u1ea9n \u0111o\u00e1n tr\u1ebb s\u01a1 sinh tr\u01b0\u1edbc khi c\u00e1c tri\u1ec7u ch\u1ee9ng xu\u1ea5t hi\u1ec7n.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Li\u1ec7u ph\u00e1p ti\u00eau chu\u1ea9n cho MPS I v\u00e0 MPS II<\/strong><\/h2>\n\n\n\n<p>Hi\u1ec7n t\u1ea1i, ch\u01b0a c\u00f3 ph\u01b0\u01a1ng ph\u00e1p ch\u1eefa kh\u1ecfi MPS I ho\u1eb7c II. Tuy nhi\u00ean, li\u1ec7u ph\u00e1p thay th\u1ebf enzyme v\u00e0 gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c t\u1ea1o m\u00e1u \u0111ang \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng nh\u01b0 c\u00e1c li\u1ec7u ph\u00e1p ti\u00eau chu\u1ea9n \u0111\u1ec3 l\u00e0m ch\u1eadm ti\u1ebfn tri\u1ec3n c\u1ee7a b\u1ec7nh v\u00e0 c\u1ea3i thi\u1ec7n ch\u1ea5t l\u01b0\u1ee3ng cu\u1ed9c s\u1ed1ng.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Li\u1ec7u ph\u00e1p thay th\u1ebf enzyme (ERT)<\/strong><\/li>\n<\/ul>\n\n\n\n<p>Trong ERT, m\u1ed9t d\u1ea1ng enzyme thi\u1ebfu h\u1ee5t \u0111\u01b0\u1ee3c bi\u1ebfn \u0111\u1ed5i gen (t\u00e1i t\u1ed5 h\u1ee3p) s\u1ebd \u0111\u01b0\u1ee3c ti\u00eam v\u00e0o t\u0129nh m\u1ea1ch c\u1ee7a tr\u1ebb (ti\u00eam t\u0129nh m\u1ea1ch) m\u1ed9t l\u1ea7n m\u1ed9t tu\u1ea7n.&nbsp;<\/p>\n\n\n\n<p>\u1ede nh\u1eefng b\u1ec7nh nh\u00e2n m\u1eafc MPS I, Laronidase (<a href=\"https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/label\/2023\/125058s246lbl.pdf\">Aldurazyme<\/a>), M\u1ed9t<strong> <\/strong>Thu\u1ed1c \u0111\u01b0\u1ee3c FDA ch\u1ea5p thu\u1eadn n\u0103m 2003, \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng \u0111\u1ec3 thay th\u1ebf enzyme \u03b1-L-iduronidase b\u1ecb thi\u1ebfu. \u0110\u1ed1i v\u1edbi MPS II, Idursulfase (<a href=\"https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/label\/2013\/125151s0152lbl.pdf\">Elaprase<\/a>), M\u1ed9t<strong> <\/strong>Thu\u1ed1c \u0111\u01b0\u1ee3c FDA ch\u1ea5p thu\u1eadn v\u00e0o n\u0103m 2006, \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng \u0111\u1ec3 thay th\u1ebf enzyme iduronate-2-sulfatase b\u1ecb thi\u1ebfu.<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c t\u1ea1o m\u00e1u (HSCT)<\/strong><\/li>\n<\/ul>\n\n\n\n<p>Gh\u00e9p t\u1ebf b\u00e0o g\u1ed1c t\u1ea1o m\u00e1u (HSCT) ch\u1ec9 \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng cho b\u1ec7nh MPS I, v\u00ec n\u00f3 hi\u1ec7u qu\u1ea3 h\u01a1n trong \u0111i\u1ec1u tr\u1ecb MPS I (h\u1ed9i ch\u1ee9ng Hurler) n\u1ebfu \u0111\u01b0\u1ee3c b\u1eaft \u0111\u1ea7u s\u1edbm. Trong li\u1ec7u ph\u00e1p n\u00e0y, t\u1ee7y x\u01b0\u01a1ng c\u1ee7a b\u1ec7nh nh\u00e2n \u0111\u01b0\u1ee3c thay th\u1ebf b\u1eb1ng t\u1ee7y x\u01b0\u01a1ng kh\u1ecfe m\u1ea1nh c\u1ee7a ng\u01b0\u1eddi hi\u1ebfn t\u1eb7ng, c\u00f3 th\u1ec3 s\u1ea3n xu\u1ea5t enzyme b\u1ecb thi\u1ebfu.&nbsp;<\/p>\n\n\n\n<p>HSCT c\u00f3 th\u1ec3 gi\u00fap b\u1ea3o t\u1ed3n ch\u1ee9c n\u0103ng nh\u1eadn th\u1ee9c n\u1ebfu \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n tr\u01b0\u1edbc khi c\u00e1c tri\u1ec7u ch\u1ee9ng ch\u00ednh ph\u00e1t tri\u1ec3n.&nbsp;<\/p>\n\n\n\n<p>Nh\u00e0 cung c\u1ea5p d\u1ecbch v\u1ee5 ch\u0103m s\u00f3c s\u1ee9c kh\u1ecfe c\u1ee7a b\u1ea1n c\u0169ng c\u00f3 th\u1ec3 \u0111\u1ec1 xu\u1ea5t c\u00e1c ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb h\u1ed7 tr\u1ee3 kh\u00e1c nh\u01b0 ph\u1eabu thu\u1eadt, c\u00e1c lo\u1ea1i thu\u1ed1c kh\u00e1c v\u00e0 v\u1eadt l\u00fd tr\u1ecb li\u1ec7u \u0111\u1ec3 ki\u1ec3m so\u00e1t c\u00e1c tri\u1ec7u ch\u1ee9ng ho\u1eb7c v\u1ea5n \u0111\u1ec1 v\u00e0 c\u1ea3i thi\u1ec7n ch\u1ea5t l\u01b0\u1ee3ng cu\u1ed9c s\u1ed1ng cho b\u1ec7nh nh\u00e2n MPS I v\u00e0 II.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Tu\u1ed5i th\u1ecd<\/strong><\/h2>\n\n\n\n<p>C\u00e1c ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb hi\u1ec7n t\u1ea1i (v\u00ed d\u1ee5, ERT v\u00e0 HSCT) c\u00f3 th\u1ec3 c\u1ea3i thi\u1ec7n t\u1ef7 l\u1ec7 s\u1ed1ng s\u00f3t n\u1ebfu \u0111\u01b0\u1ee3c b\u1eaft \u0111\u1ea7u tr\u01b0\u1edbc khi t\u1ed5n th\u01b0\u01a1ng kh\u00f4ng h\u1ed3i ph\u1ee5c x\u1ea3y ra. B\u1ec7nh nh\u00e2n MPS I th\u1ec3 n\u1eb7ng (h\u1ed9i ch\u1ee9ng Hurler) c\u00f3 tu\u1ed5i th\u1ecd d\u01b0\u1edbi 10 n\u0103m n\u1ebfu kh\u00f4ng \u0111\u01b0\u1ee3c \u0111i\u1ec1u tr\u1ecb. Tuy nhi\u00ean, n\u1ebfu \u0111\u01b0\u1ee3c \u0111i\u1ec1u tr\u1ecb k\u1ecbp th\u1eddi, nh\u1eefng ng\u01b0\u1eddi m\u1eafc b\u1ec7nh nh\u1eb9 c\u00f3 th\u1ec3 s\u1ed1ng \u0111\u1ebfn tu\u1ed5i tr\u01b0\u1edfng th\u00e0nh ho\u1eb7c th\u1ecd \u0111\u1ebfn tu\u1ed5i gi\u00e0.&nbsp;<\/p>\n\n\n\n<p>\u1ede MPS II, s\u1ef1 suy gi\u1ea3m nhanh ch\u00f3ng v\u1ec1 th\u1ec3 ch\u1ea5t v\u00e0 th\u1ea7n kinh c\u00f3 th\u1ec3 r\u00fat ng\u1eafn tu\u1ed5i th\u1ecd xu\u1ed1ng c\u00f2n kho\u1ea3ng <strong>10\u201320 n\u0103m<\/strong> kh\u00f4ng c\u1ea7n \u0111i\u1ec1u tr\u1ecb. Nh\u1eefng ng\u01b0\u1eddi m\u1eafc b\u1ec7nh nh\u1eb9 th\u01b0\u1eddng s\u1ed1ng l\u00e2u h\u01a1n \u0111\u1ebfn tu\u1ed5i tr\u01b0\u1edfng th\u00e0nh.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>M\u1ee5c ti\u00eau nghi\u00ean c\u1ee9u trong t\u01b0\u01a1ng lai&nbsp;<\/strong><\/h2>\n\n\n\n<p>Li\u1ec7u ph\u00e1p gen (ch\u1ec9nh s\u1eeda gen) <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S187595722200225X#sec4\">th\u1eed nghi\u1ec7m<\/a> v\u00e0 c\u00e1c th\u1eed nghi\u1ec7m li\u1ec7u ph\u00e1p ch\u1ed1ng vi\u00eam \u0111ang \u0111\u01b0\u1ee3c ti\u1ebfn h\u00e0nh v\u00e0 c\u00f3 th\u1ec3 mang l\u1ea1i hy v\u1ecdng cho b\u1ec7nh nh\u00e2n MPS I v\u00e0 MPS II.<\/p>","protected":false},"excerpt":{"rendered":"<p>N\u1ebfu b\u1ea1n th\u1ea5y con m\u00ecnh c\u1eed \u0111\u1ed9ng h\u01a1i c\u1ee9ng nh\u1eafc, hay \u1ed1m h\u01a1n b\u00ecnh th\u01b0\u1eddng ho\u1eb7c b\u1ee5ng tr\u00f2n h\u01a1n b\u00ecnh th\u01b0\u1eddng, b\u1ea1n c\u00f3 th\u1ec3 ngh\u0129 r\u1eb1ng \u0111\u00f3 ch\u1ec9 l\u00e0 m\u1ed9t ph\u1ea7n c\u1ee7a qu\u00e1 tr\u00ecnh ph\u00e1t tri\u1ec3n.<\/p>","protected":false},"author":22,"featured_media":13657,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":true,"inline_featured_image":false,"_uag_custom_page_level_css":"","footnotes":""},"categories":[118],"tags":[124,121,122,123],"class_list":["post-13655","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-enzyme-replacement-therapy","tag-enzyme-deficiency","tag-mps-i","tag-mps-ii","tag-mucopolysaccharidosis"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - 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