{"id":13640,"date":"2025-08-29T16:02:13","date_gmt":"2025-08-29T23:02:13","guid":{"rendered":"https:\/\/ameripharmainfusioncenter.com\/?p=13640"},"modified":"2025-08-29T16:04:14","modified_gmt":"2025-08-29T23:04:14","slug":"pompe-disease-causes-symptoms-diagnosis-and-treatment","status":"publish","type":"post","link":"https:\/\/ameripharmainfusioncenter.com\/vi\/pompe-disease-causes-symptoms-diagnosis-and-treatment\/","title":{"rendered":"B\u1ec7nh Pompe: Nguy\u00ean nh\u00e2n, Tri\u1ec7u ch\u1ee9ng, Ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0110i\u1ec1u tr\u1ecb"},"content":{"rendered":"<p>B\u1ec7nh Pompe l\u00e0 m\u1ed9t r\u1ed1i lo\u1ea1n di truy\u1ec1n hi\u1ebfm g\u1eb7p \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn kho\u1ea3ng <a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/pompe-disease\/#inheritance\">1 trong 40.000 ng\u01b0\u1eddi \u1edf Hoa K\u1ef3<\/a>T\u00ecnh tr\u1ea1ng n\u00e0y l\u00e0m suy y\u1ebfu kh\u1ea3 n\u0103ng ho\u1ea1t \u0111\u1ed9ng b\u00ecnh th\u01b0\u1eddng c\u1ee7a c\u01a1, khi\u1ebfn ch\u00fang y\u1ebfu \u0111i theo th\u1eddi gian.&nbsp;&nbsp;<\/p>\n\n\n\n<p>B\u1ec7nh Pompe c\u00f3 th\u1ec3 g\u00e2y t\u1eed vong n\u1ebfu \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n s\u1edbm. M\u1eb7c d\u00f9 hi\u1ec7n nay v\u1eabn ch\u01b0a c\u00f3 ph\u01b0\u01a1ng ph\u00e1p ch\u1eefa kh\u1ecfi, m\u1ed9t s\u1ed1 ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb v\u00e0 ch\u0103m s\u00f3c h\u1ed7 tr\u1ee3 c\u00f3 th\u1ec3 gi\u00fap ki\u1ec3m so\u00e1t c\u00e1c tri\u1ec7u ch\u1ee9ng v\u00e0 c\u1ea3i thi\u1ec7n ch\u1ea5t l\u01b0\u1ee3ng cu\u1ed9c s\u1ed1ng cho b\u1ec7nh nh\u00e2n.&nbsp;<\/p>\n\n\n\n<p>B\u00e0i vi\u1ebft n\u00e0y th\u1ea3o lu\u1eadn v\u1ec1 m\u1ecdi th\u1ee9 b\u1ea1n n\u00ean bi\u1ebft v\u1ec1 t\u00ecnh tr\u1ea1ng di truy\u1ec1n n\u00e0y, ch\u1eb3ng h\u1ea1n nh\u01b0 b\u1ec7nh l\u00e0 g\u00ec, t\u1ea1i sao l\u1ea1i x\u1ea3y ra, c\u00e1c lo\u1ea1i v\u00e0 tri\u1ec7u ch\u1ee9ng kh\u00e1c nhau, c\u0169ng nh\u01b0 c\u00e1ch ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb.&nbsp;&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>B\u1ec7nh Pompe l\u00e0 g\u00ec?<\/strong><\/h2>\n\n\n\n<p>B\u1ec7nh Pompe, c\u00f2n \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 b\u1ec7nh t\u00edch tr\u1eef glycogen lo\u1ea1i II (GSD2), l\u00e0 m\u1ed9t t\u00ecnh tr\u1ea1ng di truy\u1ec1n x\u1ea3y ra khi c\u01a1 th\u1ec3 kh\u00f4ng c\u00f3 kh\u1ea3 n\u0103ng ph\u00e2n h\u1ee7y glycogen (m\u1ed9t lo\u1ea1i \u0111\u01b0\u1eddng ph\u1ee9c h\u1ee3p) do thi\u1ebfu h\u1ee5t m\u1ed9t lo\u1ea1i enzyme ti\u00eau h\u00f3a g\u1ecdi l\u00e0 axit alpha-glucosidase (GAA).&nbsp;<\/p>\n\n\n\n<p>B\u1ec7nh Pompe \u0111\u01b0\u1ee3c coi l\u00e0 m\u1ed9t t\u00ecnh tr\u1ea1ng ti\u1ebfn tri\u1ec3n, c\u00f3 ngh\u0129a l\u00e0 c\u00e1c tri\u1ec7u ch\u1ee9ng c\u00f3 th\u1ec3 tr\u1edf n\u00ean t\u1ed3i t\u1ec7 h\u01a1n theo th\u1eddi gian n\u1ebfu kh\u00f4ng \u0111\u01b0\u1ee3c \u0111i\u1ec1u tr\u1ecb s\u1edbm.<\/p>\n\n\n\n<p>T\u00ecnh tr\u1ea1ng n\u00e0y c\u00f2n \u0111\u01b0\u1ee3c g\u1ecdi b\u1eb1ng nh\u1eefng t\u00ean kh\u00e1c nh\u01b0 thi\u1ebfu h\u1ee5t axit alpha-glucosidase (GAA) ho\u1eb7c thi\u1ebfu h\u1ee5t axit maltase (axit maltase l\u00e0 t\u00ean g\u1ecdi kh\u00e1c c\u1ee7a axit alpha-glucosidase).&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Nguy\u00ean nh\u00e2n g\u00e2y ra b\u1ec7nh Pompe l\u00e0 g\u00ec?<\/strong><\/h2>\n\n\n\n<p>B\u1ec7nh Pompe l\u00e0 do \u0111\u1ed9t bi\u1ebfn gen GAA, gen ch\u1ecbu tr\u00e1ch nhi\u1ec7m s\u1ea3n xu\u1ea5t enzyme axit alpha-glucosidase (GAA). C\u01a1 th\u1ec3 b\u1ea1n s\u1eed d\u1ee5ng enzyme n\u00e0y \u0111\u1ec3 ph\u00e2n h\u1ee7y \u0111\u01b0\u1eddng ph\u1ee9c h\u1ee3p (glycogen).&nbsp;<\/p>\n\n\n\n<p>Th\u00f4ng th\u01b0\u1eddng, enzyme GAA c\u00f3 m\u1eb7t trong <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK9953\/#:~:text=Lysosomes%20are%20membrane%2Denclosed%20organelles,acids%2C%20carbohydrates%2C%20and%20lipids.\">lysosome<\/a> (nh\u1eefng c\u1ea5u tr\u00fac nh\u1ecf \u0111\u00f3ng vai tr\u00f2 l\u00e0 trung t\u00e2m t\u00e1i ch\u1ebf b\u00ean trong t\u1ebf b\u00e0o). Trong lysosome c\u1ee7a t\u1ebf b\u00e0o, enzyme GAA gi\u00fap ph\u00e2n h\u1ee7y glycogen th\u00e0nh glucose, \u0111\u00e2y l\u00e0 ngu\u1ed3n n\u0103ng l\u01b0\u1ee3ng ch\u00ednh cho h\u1ea7u h\u1ebft c\u00e1c t\u1ebf b\u00e0o trong c\u01a1 th\u1ec3.&nbsp;<\/p>\n\n\n\n<p>Tuy nhi\u00ean, \u1edf nh\u1eefng ng\u01b0\u1eddi m\u1eafc b\u1ec7nh Pompe, s\u1ef1 thi\u1ebfu h\u1ee5t ho\u1eb7c s\u1ea3n xu\u1ea5t \u00edt enzyme GAA do \u0111\u1ed9t bi\u1ebfn gen GAA khi\u1ebfn glycogen t\u00edch t\u1ee5 trong lysosome. S\u1ef1 t\u00edch t\u1ee5 n\u00e0y g\u00e2y t\u1ed5n th\u01b0\u01a1ng c\u00e1c c\u01a1 quan v\u00e0 m\u00f4 tr\u00ean kh\u1eafp c\u01a1 th\u1ec3, \u0111\u1eb7c bi\u1ec7t l\u00e0 c\u01a1, d\u1eabn \u0111\u1ebfn c\u00e1c d\u1ea5u hi\u1ec7u v\u00e0 tri\u1ec7u ch\u1ee9ng ti\u1ebfn tri\u1ec3n c\u1ee7a b\u1ec7nh Pompe.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>C\u00e1c lo\u1ea1i b\u1ec7nh Pompe<\/strong><\/h2>\n\n\n\n<p>B\u1ec7nh Pompe c\u00f3 th\u1ec3 \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn m\u1ecdi l\u1ee9a tu\u1ed5i, t\u1eeb tr\u1ebb s\u01a1 sinh \u0111\u1ebfn ng\u01b0\u1eddi l\u1edbn. R\u1ed1i lo\u1ea1n n\u00e0y \u0111\u01b0\u1ee3c chia th\u00e0nh hai lo\u1ea1i d\u1ef1a tr\u00ean l\u01b0\u1ee3ng enzyme \u0111\u01b0\u1ee3c s\u1ea3n xu\u1ea5t v\u00e0 th\u1eddi \u0111i\u1ec3m c\u00e1c tri\u1ec7u ch\u1ee9ng \u0111\u1ea7u ti\u00ean xu\u1ea5t hi\u1ec7n:<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">1. <strong>B\u1ec7nh Pompe kh\u1edfi ph\u00e1t \u1edf tr\u1ebb s\u01a1 sinh (IOPD)<\/strong><\/h3>\n\n\n\n<p>B\u1ec7nh Pompe kh\u1edfi ph\u00e1t \u1edf tr\u1ebb s\u01a1 sinh ho\u1eb7c giai \u0111o\u1ea1n s\u1edbm nghi\u00eam tr\u1ecdng h\u01a1n v\u00e0 ti\u1ebfn tri\u1ec3n nhanh h\u01a1n so v\u1edbi kh\u1edfi ph\u00e1t mu\u1ed9n. \u1ede nh\u1eefng b\u1ec7nh nh\u00e2n m\u1eafc lo\u1ea1i b\u1ec7nh n\u00e0y, enzyme alpha-glucosidase axit \u0111\u01b0\u1ee3c s\u1ea3n xu\u1ea5t v\u1edbi s\u1ed1 l\u01b0\u1ee3ng r\u1ea5t th\u1ea5p ho\u1eb7c kh\u00f4ng \u0111\u01b0\u1ee3c s\u1ea3n xu\u1ea5t.<\/p>\n\n\n\n<p>B\u1ec7nh kh\u1edfi ph\u00e1t \u1edf tr\u1ebb s\u01a1 sinh \u0111\u01b0\u1ee3c chia th\u00e0nh hai ph\u00e2n nh\u00f3m d\u1ef1a tr\u00ean th\u1eddi \u0111i\u1ec3m c\u00e1c tri\u1ec7u ch\u1ee9ng \u0111\u1ea7u ti\u00ean xu\u1ea5t hi\u1ec7n. V\u00ed d\u1ee5:<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>Kh\u1edfi ph\u00e1t c\u1ed5 \u0111i\u1ec3n-tr\u1ebb s\u01a1 sinh<\/strong><\/h4>\n\n\n\n<p>\u1ede d\u1ea1ng n\u00e0y, c\u00e1c tri\u1ec7u ch\u1ee9ng b\u1eaft \u0111\u1ea7u xu\u1ea5t hi\u1ec7n trong v\u00e0i th\u00e1ng \u0111\u1ea7u \u0111\u1eddi, th\u01b0\u1eddng g\u1eb7p nh\u1ea5t l\u00e0 kho\u1ea3ng 2 \u2013 4 th\u00e1ng tu\u1ed5i. \u0110\u1ebfn 4 tu\u1ed5i, t\u1ed5n th\u01b0\u01a1ng c\u01a1 tim ph\u00e1t tri\u1ec3n, g\u00e2y ra t\u00ecnh tr\u1ea1ng tim to (tim to) v\u00e0 cu\u1ed1i c\u00f9ng l\u00e0 suy tim.&nbsp;<\/p>\n\n\n\n<p>Ngo\u00e0i ra, t\u00ecnh tr\u1ea1ng y\u1ebfu c\u01a1 ti\u1ebfn tri\u1ec3n (b\u1ec7nh c\u01a1), tr\u01b0\u01a1ng l\u1ef1c c\u01a1 k\u00e9m (h\u1ea1 huy\u1ebft \u00e1p), gan to (gan to) v\u00e0 d\u1ecb t\u1eadt tim c\u0169ng c\u00f3 th\u1ec3 x\u1ea3y ra. Tr\u1ebb s\u01a1 sinh b\u1ecb \u1ea3nh h\u01b0\u1edfng c\u0169ng kh\u00f4ng t\u0103ng c\u00e2n v\u00e0 ph\u00e1t tri\u1ec3n b\u00ecnh th\u01b0\u1eddng.&nbsp;<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>Kh\u1edfi ph\u00e1t \u1edf tr\u1ebb s\u01a1 sinh kh\u00f4ng \u0111i\u1ec3n h\u00ecnh<\/strong><\/h4>\n\n\n\n<p>Tr\u1ebb s\u01a1 sinh th\u01b0\u1eddng bi\u1ec3u hi\u1ec7n c\u00e1c d\u1ea5u hi\u1ec7u c\u1ee7a c\u0103n b\u1ec7nh hi\u1ebfm g\u1eb7p n\u00e0y khi \u0111\u01b0\u1ee3c 1 tu\u1ed5i. Tr\u1ebb s\u01a1 sinh b\u1ecb y\u1ebfu c\u01a1 ti\u1ebfn tri\u1ec3n v\u00e0 ch\u1eadm ph\u00e1t tri\u1ec3n k\u1ef9 n\u0103ng v\u1eadn \u0111\u1ed9ng. T\u00ecnh tr\u1ea1ng y\u1ebfu c\u01a1 c\u0169ng g\u00e2y ra c\u00e1c v\u1ea5n \u0111\u1ec1 v\u1ec1 h\u00f4 h\u1ea5p \u1edf tr\u1ebb s\u01a1 sinh m\u1eafc lo\u1ea1i kh\u00f4ng \u0111i\u1ec3n h\u00ecnh.&nbsp;<\/p>\n\n\n\n<p>N\u1ebfu kh\u00f4ng \u0111\u01b0\u1ee3c \u0111i\u1ec1u tr\u1ecb, b\u1ec7nh c\u00f3 th\u1ec3 \u0111e d\u1ecda t\u00ednh m\u1ea1ng trong n\u0103m \u0111\u1ea7u ti\u00ean do c\u00e1c v\u1ea5n \u0111\u1ec1 v\u1ec1 h\u00f4 h\u1ea5p.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">2. <strong>B\u1ec7nh Pompe kh\u1edfi ph\u00e1t mu\u1ed9n (LOPD)<\/strong><\/h3>\n\n\n\n<p>LOPD, c\u00f2n \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 b\u1ec7nh Pompe \u1edf tr\u1ebb em ho\u1eb7c ng\u01b0\u1eddi l\u1edbn, c\u00f3 th\u1ec3 x\u1ea3y ra \u1edf m\u1ecdi l\u1ee9a tu\u1ed5i. Lo\u1ea1i n\u00e0y \u00edt nghi\u00eam tr\u1ecdng h\u01a1n so v\u1edbi b\u1ec7nh kh\u1edfi ph\u00e1t \u1edf tr\u1ebb s\u01a1 sinh. M\u1eb7c d\u00f9 LOPD ti\u1ebfn tri\u1ec3n ch\u1eadm, n\u00f3 v\u1eabn c\u00f3 th\u1ec3 g\u00e2y ra khuy\u1ebft t\u1eadt nghi\u00eam tr\u1ecdng.&nbsp;<\/p>\n\n\n\n<p>Nh\u1eefng ng\u01b0\u1eddi m\u1eafc lo\u1ea1i LOPD s\u1ea3n xu\u1ea5t ra m\u1ed9t l\u01b0\u1ee3ng nh\u1ecf enzyme alpha-glucosidase axit (GAA) v\u00e0 c\u00e1c tri\u1ec7u ch\u1ee9ng \u0111\u1ea7u ti\u00ean th\u01b0\u1eddng xu\u1ea5t hi\u1ec7n mu\u1ed9n h\u01a1n \u1edf th\u1eddi th\u01a1 \u1ea5u, thanh thi\u1ebfu ni\u00ean ho\u1eb7c tr\u01b0\u1edfng th\u00e0nh.&nbsp;<\/p>\n\n\n\n<p>B\u1ec7nh nh\u00e2n LOPD th\u01b0\u1eddng b\u1ecb y\u1ebfu c\u01a1 ti\u1ebfn tri\u1ec3n (b\u1ec7nh c\u01a1) c\u00f3 th\u1ec3 d\u1eabn \u0111\u1ebfn c\u00e1c v\u1ea5n \u0111\u1ec1 v\u1ec1 h\u00f4 h\u1ea5p v\u00e0 cu\u1ed1i c\u00f9ng l\u00e0 suy h\u00f4 h\u1ea5p. Kh\u00f4ng gi\u1ed1ng nh\u01b0 b\u1ec7nh Pompe kh\u1edfi ph\u00e1t \u1edf tr\u1ebb s\u01a1 sinh, lo\u1ea1i n\u00e0y \u00edt c\u00f3 kh\u1ea3 n\u0103ng \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn tim.&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Nh\u1eefng d\u1ea5u hi\u1ec7u v\u00e0 tri\u1ec7u ch\u1ee9ng ph\u1ed5 bi\u1ebfn l\u00e0 g\u00ec?<\/strong><\/h2>\n\n\n\n<p>Nh\u01b0 \u0111\u00e3 th\u1ea3o lu\u1eadn tr\u01b0\u1edbc \u0111\u00f3, c\u00e1c tri\u1ec7u ch\u1ee9ng c\u1ee7a b\u1ec7nh n\u00e0y c\u00f3 th\u1ec3 kh\u00e1c nhau t\u00f9y thu\u1ed9c v\u00e0o lo\u1ea1i v\u00e0 giai \u0111o\u1ea1n b\u1ec7nh. M\u1ed9t s\u1ed1 tri\u1ec7u ch\u1ee9ng ph\u1ed5 bi\u1ebfn bao g\u1ed3m:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Y\u1ebfu c\u01a1, \u0111\u1eb7c bi\u1ec7t l\u00e0 \u1edf th\u00e2n, vai, h\u00f4ng v\u00e0 ch\u00e2n.<\/li>\n\n\n\n<li>Gi\u1ea3m tr\u01b0\u01a1ng l\u1ef1c c\u01a1 (gi\u1ea3m tr\u01b0\u01a1ng l\u1ef1c c\u01a1), khi\u1ebfn c\u01a1 b\u1eafp tr\u1edf n\u00ean m\u1ec1m nh\u0169n.<\/li>\n\n\n\n<li>Kh\u00f3 th\u1edf do c\u01a1 ho\u00e0nh v\u00e0 c\u01a1 h\u00f4 h\u1ea5p y\u1ebfu.<\/li>\n\n\n\n<li>Tim to (th\u01b0\u1eddng g\u1eb7p \u1edf tr\u1ebb s\u01a1 sinh).<\/li>\n\n\n\n<li>C\u00e1c v\u1ea5n \u0111\u1ec1 v\u1ec1 \u0103n u\u1ed1ng nh\u01b0 kh\u00f3 b\u00fa, kh\u00f3 nu\u1ed1t ho\u1eb7c kh\u00f3 nhai.<\/li>\n\n\n\n<li>Ch\u1eadm ph\u00e1t tri\u1ec3n c\u00e1c k\u1ef9 n\u0103ng v\u1eadn \u0111\u1ed9ng nh\u01b0 l\u0103n, ng\u1ed3i ho\u1eb7c \u0111i.<\/li>\n\n\n\n<li>M\u1ec7t m\u1ecfi, ch\u1eb3ng h\u1ea1n nh\u01b0 t\u00ecnh tr\u1ea1ng m\u1ec7t m\u1ecfi li\u00ean t\u1ee5c v\u00e0 s\u1ee9c b\u1ec1n th\u1ea5p.<\/li>\n\n\n\n<li>B\u1ec7nh v\u1eb9o c\u1ed9t s\u1ed1ng (\u0111\u1ed9 cong c\u1ee7a c\u1ed9t s\u1ed1ng do c\u01a1 y\u1ebfu).<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>B\u1ec7nh Pompe \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n nh\u01b0 th\u1ebf n\u00e0o?<\/strong><\/h2>\n\n\n\n<p>Ch\u1ea9n \u0111o\u00e1n s\u1edbm v\u00e0 ch\u00ednh x\u00e1c l\u00e0 r\u1ea5t quan tr\u1ecdng, \u0111\u1eb7c bi\u1ec7t n\u1ebfu c\u00e1c tri\u1ec7u ch\u1ee9ng c\u1ee7a r\u1ed1i lo\u1ea1n n\u00e0y xu\u1ea5t hi\u1ec7n v\u00e0i th\u00e1ng sau khi sinh. C\u00e1c x\u00e9t nghi\u1ec7m x\u00e1c \u0111\u1ecbnh v\u00e0 c\u1ee5 th\u1ec3 h\u01a1n cho b\u1ec7nh Pompe bao g\u1ed3m sinh thi\u1ebft c\u01a1, x\u00e9t nghi\u1ec7m m\u00e1u v\u00e0 ph\u00e2n t\u00edch di truy\u1ec1n ph\u00e2n t\u1eed.&nbsp;<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">1. <strong>Sinh thi\u1ebft c\u01a1<\/strong><\/h3>\n\n\n\n<p>Trong b\u1ec7nh Pompe, sinh thi\u1ebft c\u01a1 th\u01b0\u1eddng cho th\u1ea5y c\u00e1c s\u1ee3i c\u01a1 c\u00f3 t\u00fai nh\u1ecf ch\u1ee9a \u0111\u1ea7y glycogen d\u01b0 th\u1eeba.&nbsp;<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">2. <strong>X\u00e9t nghi\u1ec7m m\u00e1u<\/strong><\/h3>\n\n\n\n<p>X\u00e9t nghi\u1ec7m m\u00e1u \u0111o ho\u1ea1t \u0111\u1ed9ng c\u1ee7a enzyme \u03b1-glucosidase (GAA) b\u1eb1ng c\u00e1ch s\u1eed d\u1ee5ng m\u1eabu m\u00e1u ho\u1eb7c m\u1eabu sinh thi\u1ebft da ho\u1eb7c c\u01a1. N\u1ed3ng \u0111\u1ed9 enzyme GAA th\u1ea5p trong m\u00e1u c\u1ee7a b\u1ec7nh nh\u00e2n c\u00f3 th\u1ec3 gi\u00fap ch\u1ea9n \u0111o\u00e1n b\u1ec7nh Pompe.&nbsp;<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/blood-test.jpg\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"682\" src=\"https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/blood-test-1024x682.jpg\" alt=\"\" class=\"wp-image-13642\" srcset=\"https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/blood-test-1024x682.jpg 1024w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/blood-test-300x200.jpg 300w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/blood-test-768x512.jpg 768w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/blood-test-18x12.jpg 18w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/blood-test-600x400.jpg 600w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/blood-test-330x220.jpg 330w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/blood-test-86x57.jpg 86w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/blood-test-167x111.jpg 167w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/blood-test-280x187.jpg 280w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/blood-test-370x247.jpg 370w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/blood-test-960x640.jpg 960w, https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/blood-test.jpg 1280w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/a><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\">3. <strong>X\u00e9t nghi\u1ec7m di truy\u1ec1n ph\u00e2n t\u1eed<\/strong><\/h3>\n\n\n\n<p>X\u00e9t nghi\u1ec7m ph\u00e2n t\u1eed di truy\u1ec1n l\u00e0 b\u01b0\u1edbc th\u1ee9 hai \u0111\u1ec3 x\u00e1c nh\u1eadn ch\u1ea9n \u0111o\u00e1n b\u1ec7nh t\u00edch tr\u1eef glycogen lo\u1ea1i II (GSDII). \u0110i\u1ec1u n\u00e0y gi\u00fap x\u00e1c \u0111\u1ecbnh c\u00e1c \u0111\u1ed9t bi\u1ebfn trong gen GAA. Hi\u1ec7n nay, h\u01a1n 300 - 500 \u0111\u1ed9t bi\u1ebfn GAA \u0111\u00e3 \u0111\u01b0\u1ee3c x\u00e1c \u0111\u1ecbnh, v\u00e0 c\u00e1c \u0111\u1ed9t bi\u1ebfn c\u1ee5 th\u1ec3 kh\u00e1c nhau gi\u1eefa IOPD v\u00e0 LOPD.&nbsp;<\/p>\n\n\n\n<p>B\u00ean c\u1ea1nh x\u00e9t nghi\u1ec7m m\u00e1u v\u00e0 ph\u00e2n t\u00edch gen, b\u1ea1n c\u0169ng c\u00f3 th\u1ec3 c\u1ea7n l\u00e0m c\u00e1c x\u00e9t nghi\u1ec7m kh\u00e1c \u0111\u1ec3 ph\u00e1t hi\u1ec7n ho\u1eb7c \u0111\u00e1nh gi\u00e1 c\u00e1c tri\u1ec7u ch\u1ee9ng c\u00f3 th\u1ec3 li\u00ean quan \u0111\u1ebfn b\u1ec7nh n\u00e0y. Bao g\u1ed3m:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Creatine Kinase huy\u1ebft thanh (CK):<\/strong> \u0110\u1ec3 ki\u1ec3m tra n\u1ed3ng \u0111\u1ed9 enzyme creatine kinase trong m\u00e1u.\u00a0<\/li>\n\n\n\n<li><strong>\u0110i\u1ec7n c\u01a1 \u0111\u1ed3 (EMG)<\/strong>: X\u00e9t nghi\u1ec7m n\u00e0y \u0111o ho\u1ea1t \u0111\u1ed9ng \u0111i\u1ec7n trong c\u01a1. N\u00f3i c\u00e1ch kh\u00e1c, n\u00f3 ki\u1ec3m tra m\u1ee9c \u0111\u1ed9 ho\u1ea1t \u0111\u1ed9ng c\u1ee7a c\u01a1.\u00a0<\/li>\n\n\n\n<li><strong>Ch\u1ee5p MRI ho\u1eb7c CT<\/strong>: \u0110\u1ec3 ki\u1ec3m tra xem c\u01a1 c\u00f3 b\u1ecb t\u1ed5n th\u01b0\u01a1ng kh\u00f4ng.<\/li>\n\n\n\n<li><strong>Si\u00eau \u00e2m tim (Echo) v\u00e0 ch\u1ee5p X-quang ng\u1ef1c<\/strong>: \u0110\u1ebeN<strong> <\/strong>\u0111\u00e1nh gi\u00e1 ch\u1ee9c n\u0103ng tim v\u00e0 k\u00edch th\u01b0\u1edbc tim, th\u01b0\u1eddng to ra trong b\u1ec7nh Pompe \u1edf tr\u1ebb s\u01a1 sinh \u0111i\u1ec3n h\u00ecnh.\u00a0<\/li>\n\n\n\n<li><strong>Ki\u1ec3m tra ch\u1ee9c n\u0103ng ph\u1ed5i<\/strong>: X\u00e9t nghi\u1ec7m h\u00f4 h\u1ea5p \u0111\u1ec3 \u0111o dung t\u00edch ph\u1ed5i. N\u1ebfu b\u1ea1n m\u1eafc b\u1ec7nh Pompe \u1edf ng\u01b0\u1eddi l\u1edbn ho\u1eb7c tr\u1ebb em, b\u1ea1n c\u00f3 th\u1ec3 y\u00eau c\u1ea7u l\u00e0m x\u00e9t nghi\u1ec7m n\u00e0y v\u00ec suy h\u00f4 h\u1ea5p l\u00e0 t\u00ecnh tr\u1ea1ng th\u01b0\u1eddng g\u1eb7p.\u00a0<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>C\u00f3 nh\u1eefng ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb n\u00e0o?<\/strong><\/h2>\n\n\n\n<p>M\u1eb7c d\u00f9 kh\u00f4ng c\u00f3 c\u00e1ch ch\u1eefa kh\u1ecfi b\u1ec7nh Pompe, c\u00e1c ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb ti\u00eau chu\u1ea9n nh\u01b0 li\u1ec7u ph\u00e1p thay th\u1ebf enzyme (ERT) th\u01b0\u1eddng \u0111\u01b0\u1ee3c khuy\u1ebfn ngh\u1ecb \u0111\u1ec3 l\u00e0m ch\u1eadm qu\u00e1 tr\u00ecnh ti\u1ebfn tri\u1ec3n c\u1ee7a b\u1ec7nh, c\u1ea3i thi\u1ec7n c\u00e1c tri\u1ec7u ch\u1ee9ng v\u00e0 k\u00e9o d\u00e0i tu\u1ed5i th\u1ecd cho b\u1ec7nh nh\u00e2n.&nbsp;<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">1. <strong>Li\u1ec7u ph\u00e1p thay th\u1ebf enzyme (ERT)<\/strong><\/h3>\n\n\n\n<p>ERT l\u00e0 ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb ti\u00eau chu\u1ea9n cho t\u1ea5t c\u1ea3 b\u1ec7nh nh\u00e2n \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n m\u1eafc b\u1ec7nh Pompe. Trong li\u1ec7u ph\u00e1p n\u00e0y, alpha-glucosidase axit ng\u01b0\u1eddi t\u00e1i t\u1ed5 h\u1ee3p (rhGAA), nh\u01b0 <a href=\"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-023-02981-2\">Alglucosidase alfa<\/a> (\u0111\u01b0\u1ee3c ch\u1ec9 \u0111\u1ecbnh cho IOPD v\u00e0 LOPD) v\u00e0 <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34591286\/\">Avalglucosidase alfa<\/a><em> <\/em>(\u0111\u01b0\u1ee3c ch\u1ec9 \u0111\u1ecbnh cho LOPD), \u0111\u01b0\u1ee3c ti\u00eam t\u0129nh m\u1ea1ch cho b\u1ec7nh nh\u00e2n. Nh\u1eefng lo\u1ea1i thu\u1ed1c n\u00e0y<em> <\/em>l\u00e0 c\u00e1c enzyme \u0111\u01b0\u1ee3c bi\u1ebfn \u0111\u1ed5i gen c\u00f3 ch\u1ee9c n\u0103ng m\u00f4 ph\u1ecfng enzyme GAA b\u00ecnh th\u01b0\u1eddng v\u00e0 gi\u00fap:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Gi\u1ea3m s\u1ef1 t\u00edch t\u1ee5 glycogen b\u1eb1ng c\u00e1ch ph\u00e2n h\u1ee7y n\u00f3 th\u00e0nh \u0111\u01b0\u1eddng \u0111\u01a1n (glucose).<\/li>\n\n\n\n<li>Gi\u1ea3m k\u00edch th\u01b0\u1edbc tim v\u00e0 duy tr\u00ec ch\u1ee9c n\u0103ng b\u00ecnh th\u01b0\u1eddng c\u1ee7a tim.<\/li>\n\n\n\n<li>C\u1ea3i thi\u1ec7n ch\u1ee9c n\u0103ng, tr\u01b0\u01a1ng l\u1ef1c v\u00e0 s\u1ee9c m\u1ea1nh c\u1ee7a c\u01a1, ho\u1eb7c \u00edt nh\u1ea5t l\u00e0 l\u00e0m ch\u1eadm qu\u00e1 tr\u00ecnh ti\u1ebfn tri\u1ec3n c\u1ee7a r\u1ed1i lo\u1ea1n.<\/li>\n<\/ul>\n\n\n\n<p>H\u01a1n n\u1eefa, v\u00e0o n\u0103m 2023, FDA \u0111\u00e3 ph\u00ea duy\u1ec7t li\u1ec7u ph\u00e1p k\u1ebft h\u1ee3p cipaglucosidase alfa-atga (Pombiliti) v\u00e0 miglustat (Opfolda) \u0111\u1ec3 \u0111i\u1ec1u tr\u1ecb cho ng\u01b0\u1eddi l\u1edbn m\u1eafc b\u1ec7nh Pompe kh\u1edfi ph\u00e1t mu\u1ed9n, c\u00f3 c\u00e2n n\u1eb7ng \u226540 kg v\u00e0 c\u00f3 c\u00e1c tri\u1ec7u ch\u1ee9ng kh\u00f4ng c\u1ea3i thi\u1ec7n khi \u00e1p d\u1ee5ng li\u1ec7u ph\u00e1p thay th\u1ebf enzyme hi\u1ec7n t\u1ea1i.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">2. <strong>C\u00e1c ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb b\u1ed5 sung<\/strong><\/h3>\n\n\n\n<p>Ngo\u00e0i ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb ti\u00eau chu\u1ea9n, nh\u00f3m \u0111i\u1ec1u tr\u1ecb c\u00f3 th\u1ec3 \u0111\u1ec1 xu\u1ea5t m\u1ed9t s\u1ed1 li\u1ec7u ph\u00e1p h\u1ed7 tr\u1ee3, ch\u1eb3ng h\u1ea1n nh\u01b0:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Li\u1ec7u ph\u00e1p h\u00f4 h\u1ea5p (n\u1ebfu b\u1ec7nh nh\u00e2n b\u1ecb suy h\u00f4 h\u1ea5p \u1edf m\u1ed9t m\u1ee9c \u0111\u1ed9 n\u00e0o \u0111\u00f3)<\/li>\n\n\n\n<li>V\u1eadt l\u00fd tr\u1ecb li\u1ec7u (c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng \u0111\u1ec3 t\u0103ng c\u01b0\u1eddng c\u01a1 h\u00f4 h\u1ea5p)<\/li>\n\n\n\n<li>Li\u1ec7u ph\u00e1p ngh\u1ec1 nghi\u1ec7p (\u0111\u1ec3 h\u1ed7 tr\u1ee3 c\u00e1c ho\u1ea1t \u0111\u1ed9ng h\u00e0ng ng\u00e0y)<\/li>\n\n\n\n<li>Li\u1ec7u ph\u00e1p dinh d\u01b0\u1ee1ng (bao g\u1ed3m \u1ed1ng th\u00f4ng d\u1ea1 d\u00e0y cho tr\u1ebb s\u01a1 sinh ho\u1eb7c \u0111i\u1ec1u ch\u1ec9nh ch\u1ebf \u0111\u1ed9 \u0103n u\u1ed1ng cho ng\u01b0\u1eddi l\u1edbn n\u1ebfu c\u01a1 nhai v\u00e0 c\u01a1 nu\u1ed1t b\u1ecb \u1ea3nh h\u01b0\u1edfng)\u00a0<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Tu\u1ed5i th\u1ecd trung b\u00ecnh c\u1ee7a ng\u01b0\u1eddi m\u1eafc b\u1ec7nh Pompe l\u00e0 bao nhi\u00eau?<\/strong><\/h2>\n\n\n\n<p>Ti\u00ean l\u01b0\u1ee3ng c\u1ee7a ng\u01b0\u1eddi m\u1eafc b\u1ec7nh n\u00e0y ph\u1ee5 thu\u1ed9c v\u00e0o lo\u1ea1i b\u1ec7nh v\u00e0 c\u00e1ch \u0111i\u1ec1u tr\u1ecb s\u1edbm. V\u00ed d\u1ee5, tr\u1ebb s\u01a1 sinh m\u1eafc b\u1ec7nh kh\u1edfi ph\u00e1t \u1edf tr\u1ebb nh\u1ecf th\u01b0\u1eddng ch\u1ec9 s\u1ed1ng \u0111\u01b0\u1ee3c d\u01b0\u1edbi 2 n\u0103m do suy h\u00f4 h\u1ea5p ho\u1eb7c suy tim n\u1ebfu kh\u00f4ng \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n v\u00e0 \u0111i\u1ec1u tr\u1ecb s\u1edbm.\u00a0<\/p>\n\n\n\n<p>V\u1edbi ERT, nhi\u1ec1u tr\u1ebb em <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S1875957213000454\">s\u1ed1ng l\u00e2u h\u01a1n v\u00e0 c\u1ea3i thi\u1ec7n ch\u1ee9c n\u0103ng tim<\/a>, m\u1eb7c d\u00f9 t\u00ecnh tr\u1ea1ng y\u1ebfu c\u01a1 v\u1eabn c\u00f3 th\u1ec3 ti\u1ebfn tri\u1ec3n.<\/p>\n\n\n\n<p>M\u1eb7t kh\u00e1c, b\u1ec7nh Pompe kh\u1edfi ph\u00e1t \u1edf ng\u01b0\u1eddi l\u1edbn ti\u1ebfn tri\u1ec3n ch\u1eadm h\u01a1n v\u00e0 c\u00f3 th\u1ec3 x\u1ea3y ra suy h\u00f4 h\u1ea5p n\u1ebfu c\u00e1c c\u01a1 h\u00f4 h\u1ea5p y\u1ebfu \u0111i \u0111\u00e1ng k\u1ec3.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Ch\u00fang ta c\u00f3 th\u1ec3 ng\u0103n ng\u1eeba b\u1ec7nh Pompe kh\u00f4ng?<\/strong><\/h2>\n\n\n\n<p>Kh\u00f4ng, b\u1ea1n kh\u00f4ng th\u1ec3 ng\u0103n ng\u1eeba b\u1ec7nh Pompe v\u00ec \u0111\u00e2y l\u00e0 m\u1ed9t t\u00ecnh tr\u1ea1ng di truy\u1ec1n \u0111\u01b0\u1ee3c truy\u1ec1n trong gia \u0111\u00ecnh theo ki\u1ec3u l\u1eb7n nhi\u1ec5m s\u1eafc th\u1ec3 th\u01b0\u1eddng, ngh\u0129a l\u00e0 b\u1ea1n c\u00f3 th\u1ec3 m\u1eafc b\u1ec7nh n\u00e0y n\u1ebfu b\u1ea1n nh\u1eadn \u0111\u01b0\u1ee3c hai b\u1ea3n sao c\u1ee7a GAA \u0111\u1ed9t bi\u1ebfn t\u1eeb m\u1ed7i cha m\u1eb9 mang gen b\u1ec7nh.&nbsp;<\/p>\n\n\n\n<p>T\u01b0 v\u1ea5n di truy\u1ec1n, s\u00e0ng l\u1ecdc ng\u01b0\u1eddi mang gen b\u1ec7nh v\u00e0 x\u00e9t nghi\u1ec7m tr\u01b0\u1edbc sinh ho\u1eb7c tr\u01b0\u1edbc khi l\u00e0m t\u1ed5 c\u00f3 th\u1ec3 gi\u00fap b\u1ea1n hi\u1ec3u \u0111\u01b0\u1ee3c nguy c\u01a1 sinh con m\u1eafc b\u1ec7nh Pompe v\u00e0 h\u1ed7 tr\u1ee3 \u0111\u01b0a ra quy\u1ebft \u0111\u1ecbnh s\u00e1ng su\u1ed1t.<\/p>","protected":false},"excerpt":{"rendered":"<p>B\u1ec7nh Pompe l\u00e0 m\u1ed9t r\u1ed1i lo\u1ea1n di truy\u1ec1n hi\u1ebfm g\u1eb7p, \u1ea3nh h\u01b0\u1edfng \u0111\u1ebfn kho\u1ea3ng 1\/40.000 ng\u01b0\u1eddi \u1edf Hoa K\u1ef3. T\u00ecnh tr\u1ea1ng n\u00e0y l\u00e0m suy y\u1ebfu kh\u1ea3 n\u0103ng ho\u1ea1t \u0111\u1ed9ng b\u00ecnh th\u01b0\u1eddng c\u1ee7a c\u01a1, khi\u1ebfn ch\u00fang y\u1ebfu d\u1ea7n theo th\u1eddi gian.\u00a0\u00a0<\/p>","protected":false},"author":24,"featured_media":13641,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"_uag_custom_page_level_css":"","footnotes":""},"categories":[118],"tags":[116,117,114,115,113],"class_list":["post-13640","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-enzyme-replacement-therapy","tag-gaa","tag-glycogen","tag-iopd","tag-lopd","tag-pompe-disease"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Pompe Disease: Causes, Symptoms, Diagnosis, and Treatment - AmeriPharma Infusion Center<\/title>\n<meta name=\"description\" content=\"This article discusses everything you should know about Pompe disease, like what it is, diagnosis, types and symptoms, and how it is treated.\u00a0\u00a0\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ameripharmainfusioncenter.com\/vi\/pompe-disease-causes-symptoms-diagnosis-and-treatment\/\" \/>\n<meta property=\"og:locale\" content=\"vi_VN\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Pompe Disease: Causes, Symptoms, Diagnosis, and Treatment - 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She attended college at Midwestern University, where she graduated cum laude. The most rewarding part of her job is suggesting lifestyle changes, educating patients on how their medication works, and precepting future pharmacists. Her areas of expertise are customer service and knowledge of specialty medication. Having worked in the service industry in the past, she has gained the customer service skills necessary to understand the needs of her patients. Dr. Leduc is currently precepting students from Marshall B. Ketchum University, University of Kansas, and Midwestern University. 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C\u00f4 theo h\u1ecdc t\u1ea1i \u0110\u1ea1i h\u1ecdc Midwestern v\u00e0 t\u1ed1t nghi\u1ec7p lo\u1ea1i xu\u1ea5t s\u1eafc. Ph\u1ea7n th\u01b0\u1edfng l\u1edbn nh\u1ea5t trong c\u00f4ng vi\u1ec7c c\u1ee7a c\u00f4 l\u00e0 \u0111\u1ec1 xu\u1ea5t thay \u0111\u1ed5i l\u1ed1i s\u1ed1ng, h\u01b0\u1edbng d\u1eabn b\u1ec7nh nh\u00e2n v\u1ec1 c\u00e1ch thu\u1ed1c c\u1ee7a h\u1ecd ho\u1ea1t \u0111\u1ed9ng v\u00e0 h\u01b0\u1edbng d\u1eabn c\u00e1c d\u01b0\u1ee3c s\u0129 t\u01b0\u01a1ng lai. Chuy\u00ean m\u00f4n c\u1ee7a c\u00f4 l\u00e0 d\u1ecbch v\u1ee5 kh\u00e1ch h\u00e0ng v\u00e0 ki\u1ebfn th\u1ee9c v\u1ec1 thu\u1ed1c chuy\u00ean khoa. T\u1eebng l\u00e0m vi\u1ec7c trong ng\u00e0nh d\u1ecbch v\u1ee5, c\u00f4 \u0111\u00e3 t\u00edch l\u0169y \u0111\u01b0\u1ee3c nh\u1eefng k\u1ef9 n\u0103ng d\u1ecbch v\u1ee5 kh\u00e1ch h\u00e0ng c\u1ea7n thi\u1ebft \u0111\u1ec3 hi\u1ec3u r\u00f5 nhu c\u1ea7u c\u1ee7a b\u1ec7nh nh\u00e2n. Ti\u1ebfn s\u0129 Leduc hi\u1ec7n \u0111ang h\u01b0\u1edbng d\u1eabn sinh vi\u00ean \u0111\u1ebfn t\u1eeb \u0110\u1ea1i h\u1ecdc Marshall B. Ketchum, \u0110\u1ea1i h\u1ecdc Kansas v\u00e0 \u0110\u1ea1i h\u1ecdc Midwestern. Trong th\u1eddi gian r\u1ea3nh r\u1ed7i, c\u00f4 th\u00edch \u0111i du l\u1ecbch, l\u00e0m b\u00e1nh v\u00e0 l\u00e0m v\u01b0\u1eddn.","url":"https:\/\/ameripharmainfusioncenter.com\/vi\/author\/christine-leduc\/"}]}},"uagb_featured_image_src":{"full":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease.jpg",1280,853,false],"thumbnail":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease-150x150.jpg",150,150,true],"medium":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease-300x200.jpg",300,200,true],"medium_large":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease-768x512.jpg",768,512,true],"large":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease-1024x682.jpg",1024,682,true],"1536x1536":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease.jpg",1280,853,false],"2048x2048":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease.jpg",1280,853,false],"trp-custom-language-flag":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease-18x12.jpg",18,12,true],"block-image-html-large":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease-600x400.jpg",600,400,true],"ct-gallery":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease-330x220.jpg",330,220,true],"ct-section-header":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease-1146x380.jpg",1146,380,true],"ct-thumb":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease-86x57.jpg",86,57,true],"ct-thumb-large":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease-167x111.jpg",167,111,true],"ct-small":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease-280x187.jpg",280,187,true],"ct-medium":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease-370x247.jpg",370,247,true],"ct-xmedium":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease-960x640.jpg",960,640,true],"ct-large":["https:\/\/ameripharmainfusioncenter.com\/wp-content\/uploads\/2025\/08\/dr-pompe-disease.jpg",1280,853,false]},"uagb_author_info":{"display_name":"Dr. Christine Leduc, PharmD","author_link":"https:\/\/ameripharmainfusioncenter.com\/vi\/author\/christine-leduc\/"},"uagb_comment_info":0,"uagb_excerpt":"Pompe disease is a rare, genetically inherited disorder that affects around 1 in 40,000 people in the United States. 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