{"id":30426,"date":"2023-05-03T15:10:23","date_gmt":"2023-05-03T08:10:23","guid":{"rendered":"http:\/\/noithathoaphat.in\/ctv\/?p=30426"},"modified":"2023-05-03T15:10:23","modified_gmt":"2023-05-03T08:10:23","slug":"phinh-va-tach-dong-mach-chu-lien-quan-den-hoi-chung-di-truyen","status":"publish","type":"post","link":"http:\/\/noithathoaphat.in\/ctv\/index.php\/2023\/05\/03\/phinh-va-tach-dong-mach-chu-lien-quan-den-hoi-chung-di-truyen\/","title":{"rendered":"Ph\u00ecnh v\u00e0 t\u00e1ch \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 li\u00ean quan \u0111\u1ebfn h\u1ed9i ch\u1ee9ng di truy\u1ec1n"},"content":{"rendered":"

Ph\u00ecnh v\u00e0 t\u00e1ch \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 l\u00e0 m\u1ed9t h\u1ed9i ch\u1ee9ng di truy\u1ec1n<\/a> hi\u1ebfm g\u1eb7p do \u0111\u1ed9t bi\u1ebfn trong gen NF1, g\u00e2y ra s\u1ef1 ph\u00e1t tri\u1ec3n kh\u00f4ng b\u00ecnh th\u01b0\u1eddng c\u1ee7a c\u00e1c t\u1ebf b\u00e0o th\u1ea7n kinh v\u00e0 c\u00e1c m\u00f4 li\u00ean quan.\u00a0<\/strong><\/p>\n

1.H\u1ed9i ch\u1ee9ng Marfan<\/h2>\n

H\u1ed9i ch\u1ee9ng Marfan l\u00e0 m\u1ed9t trong nh\u1eefng b\u1ec7nh l\u00fd r\u1ed1i lo\u1ea1n m\u00f4 li\u00ean k\u1ebft di truy\u1ec1n th\u01b0\u1eddng g\u1eb7p nh\u1ea5t trong ph\u00ecnh v\u00e0 t\u00e1ch \u0111\u1ed9ng m\u1ea1ch ch\u1ee7. B\u1ec7nh di truy\u1ec1n tr\u1ed9i tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 th\u01b0\u1eddng. H\u1ed9i ch\u1ee9ng Marfan li\u00ean quan t\u1edbi s\u1ef1 \u0111\u1ed9t bi\u1ebfn c\u1ee7a gen FBN1 <\/strong>m\u00e3 h\u00f3a cho fibrillin-1 (th\u00e0nh ph\u1ea7n ch\u1ee7 y\u1ebfu c\u1ee7a elastin ho\u1eb7c elastin li\u00ean k\u1ebft microfibril) qua \u0111\u00f3 d\u0201n \u0111\u1ebfn s\u1ef1 t\u0103ng phi\u00ean m\u00e3 c\u1ee7a y\u1ebfu t\u1ed1 ph\u00e1t tri\u1ec3n v\u00e0 bi\u1ec7t h\u00f3a beta (TGF-p).<\/p>\n

D\u1ef1a theo nghi\u00ean c\u1ee9u c\u1ee7a Shore v\u00e0 c\u1ed9ng s\u1ef1 ti\u1ebfn h\u00e0nh n\u0103m 1994, thu\u1ed1c ch\u1eb9n beta giao c\u1ea3m tr\u1edf th\u00e0nh m\u1ed9t trong c\u00e1c thu\u1ed1c \u0111i\u1ec1u tr\u1ecb kinh \u0111i\u1ec3n c\u1ee7a c\u00e1c b\u1ec7nh nh\u00e2n c\u00f3 h\u1ed9i ch\u1ee9ng Marfan nh\u1eb1m gi\u1ea3m ti\u1ebfn tri\u1ec3n c\u1ee7a t\u1ed5n th\u01b0\u01a1ng \u0111\u1ed9ng m\u1ea1ch ch\u1ee7.<\/p>\n

C\u00e1c nghi\u00ean c\u1ee9u th\u1ef1c nghi\u1ec7m g\u1ea7n \u0111\u00e2y cho th\u1ea5y vi\u1ec7c \u1ee9c ch\u1ebf TGF-beta b\u1eb1ng kh\u00e1ng th\u1ec3 trung h\u00f2a ho\u1eb7c v\u1edbi angiotensin-II Type-1 receptor blocker c\u00f3 th\u1ec3 \u0111\u1ea3o ng\u01b0\u1ee3c c\u00e1c bi\u1ebfn ch\u1ee9ng t\u1ea1i th\u00e0nh m\u1ea1ch. \u0110\u00e2y l\u00e0 c\u01a1 s\u1edf cho vi\u1ec7c s\u1eed d\u1ee5ng c\u00e1c thu\u1ed1c \u1ee9c ch\u1ebf th\u1ee5 th\u1ec3 (\u0111\u1eb7c bi\u1ec7t l\u00e0 losartan) trong \u0111i\u1ec1u tr\u1ecb h\u1ed9i ch\u1ee9ng Marfan.<\/p>\n

\"H\u1ed9i<\/p>\n

Bi\u1ec3u hi\u1ec7n l\u00e2m s\u00e0ng h\u1ed9i ch\u1ee9ng Marfan<\/strong><\/p>\n

2. H\u1ed9i ch\u1ee9ng Turner<\/h2>\n

H\u1ed9i ch\u1ee9ng Turner g\u00e2y ra b\u1edfi s\u1ef1 thi\u1ebfu h\u1ee5t m\u1ed9t ph\u1ea7n ho\u1eb7c to\u00e0n b\u1ed9 nhi\u1ec5m s\u1eafc th\u1ec3 X (karotyp 45X0<\/strong>). Ch\u1ea9n \u0111o\u00e1n d\u1ef1a tr\u00ean tri\u1ec7u ch\u1ee9ng l\u00e2m s\u00e0ng v\u00e0 ph\u00e2n t\u00edch t\u1ebf b\u00e0o h\u1ecdc.<\/p>\n

Nh\u1eefng ph\u1ee5 n\u1eef b\u1ecb \u1ea3nh h\u01b0\u1edfng c\u1ee7a b\u1ec7nh th\u01b0\u1eddng c\u00f3 ki\u1ec3u h\u00ecnh l\u00f9n, c\u00e1c b\u1ea5t th\u01b0\u1eddng tim m\u1ea1ch b\u1ea9m sinh r\u1ea5t \u0111a d\u1ea1ng, b\u1ea5t th\u01b0\u1eddng \u0111\u1ed9ng m\u1ea1ch ch\u1ee7, r\u1ed1i lo\u1ea1n hormone v\u00e0 chuy\u1ec3n h\u00f3a d\u0201n \u0111\u1ebfn b\u00e9o ph\u00ec, r\u1ed1i lo\u1ea1n dung n\u1ea1p \u0111\u01b0\u1eddng huy\u1ebft, t\u0103ng lipid m\u00e1u v\u00e0 suy ch\u1ee9c n\u0103ng bu\u1ed3ng tr\u1ee9ng.<\/p>\n

Kho\u1ea3ng 75% b\u1ec7nh nh\u00e2n c\u00f3 c\u00e1c b\u1ea5t th\u01b0\u1eddng gi\u1ea3i ph\u0201u c\u1ee7a h\u1ec7 tim m\u1ea1ch: 12% c\u00e1c b\u1ec7nh nh\u00e2n h\u1ed9i ch\u1ee9ng Turner c\u00f3 h\u1eb9p eo \u0110M ch\u1ee7, 30% c\u00f3 van \u0110M ch\u1ee7 c\u00f3 hai l\u00e1 van. Th\u01b0\u1eddng quan s\u00e1t th\u1ea5y s\u1ef1 gi\u00e3n c\u1ee7a c\u00e1c \u0111\u1ed9ng m\u1ea1ch l\u1edbn, \u0111\u00e1ng ch\u00fa \u00fd nh\u1ea5t l\u00e0 \u0111\u1ed9ng m\u1ea1ch ch\u1ee7, \u0111\u1ed9ng m\u1ea1ch c\u00e1nh tay v\u00e0 \u0111\u1ed9ng m\u1ea1ch c\u1ea3nh. S\u1ef1 k\u00e9o d\u00e0i c\u1ee7a ph\u1ea7n quai, gi\u00e3n \u0110M ch\u1ee7 \u0111\u01b0\u1ee3c quan s\u00e1t th\u1ea5y v\u1edbi t\u1ef7 l\u1ec7 l\u1ea7n l\u01b0\u1ee3t 30% v\u00e0 33%, ph\u00ecnh \u0110M ch\u1ee7 th\u01b0\u1eddng g\u1eb7p \u1edf g\u1ed1c c\u1ee7a \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 l\u00ean. X\u00e1c \u0111\u1ecbnh \u0111\u01b0\u1eddng k\u00ednh c\u1ee7a \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 \u1edf ng\u01b0\u1eddi l\u1edbn v\u1edbi h\u1ed9i ch\u1ee9ng Turner th\u01b0\u1eddng kh\u00f3 kh\u0103n do kh\u00f4ng c\u00f3 s\u1ef1 t\u01b0\u01a1ng x\u1ee9ng gi\u1eefa tu\u1ed5i, gi\u1edbi v\u00e0 k\u00edch th\u01b0\u1edbc c\u01a1 th\u1ec3. T\u1ef7 l\u1ec7 t\u00e1ch th\u00e0nh \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 \u1edf ph\u1ee5 n\u1eef m\u1eafc h\u1ed9i ch\u1ee9ng Turner cao h\u01a1n 100 l\u1ea7n so v\u1edbi c\u00e1c ph\u1ee5 n\u1eef b\u00ecnh th\u01b0\u1eddng, th\u01b0\u1eddng x\u1ea3y ra \u1edf \u0111\u1ed9 tu\u1ed5i 30 – 40.<\/p>\n

Vi\u1ec7c qu\u1ea3n l\u00fd c\u00e1c b\u1ec7nh nh\u00e2n c\u00f3 h\u1ed9i ch\u1ee9ng Turner c\u1ea7n d\u1ef1a tr\u00ean nguy c\u01a1 tim m\u1ea1ch, th\u0103m kh\u00e1m l\u00e2m s\u00e0ng v\u00e0 c\u00e1c ph\u01b0\u01a1ng ph\u00e1p ch\u1ea9n \u0111o\u00e1n h\u00ecnh \u1ea3nh. \u0110\u1ed1i v\u1edbi nh\u00f3m b\u1ec7nh nh\u00e2n nguy c\u01a1 th\u1ea5p<\/em>, si\u00eau \u00e2m qua th\u00e0nh ng\u1ef1c m\u1ed7i 3 – 5 n\u0103m. \u0110\u1ed1i v\u1edbi nh\u00f3m nguy c\u01a1 trung b\u00ecnh, <\/em>ch\u1ee5p MRI l\u1ed3ng ng\u1ef1c m\u1ed7i 3 – 5 n\u0103m. \u0110\u1ed1i v\u1edbi nh\u00f3m nguy c\u01a1 cao, <\/em>c\u1ea7n kh\u00e1m chuy\u00ean khoa tim m\u1ea1ch, ch\u1ee5p phim MRI l\u1ed3ng ng\u1ef1c m\u1ed7i 1 – 2 n\u0103m.<\/p>\n

3. H\u1ed9i ch\u1ee9ng Ehlers-Danlos Type IV hay type m\u1ea1ch m\u00e1u<\/h2>\n

L\u00e0 h\u1ed9i ch\u1ee9ng r\u1ed1i lo\u1ea1n m\u00f4 li\u00ean k\u1ebft hi\u1ebfm g\u1eb7p trong ph\u00ecnh v\u00e0 t\u00e1ch \u0111\u1ed9ng m\u1ea1ch ch\u1ee7, di truy\u1ec1n tr\u1ed9i nhi\u1ec5m s\u1eafc th\u1ec3 th\u01b0\u1eddng do \u0111\u1ed9t bi\u1ebfn gen COL3A1<\/strong>, m\u00e3 h\u00f3a cho procollagen Typ III.<\/p>\n

Ch\u1ea9n \u0111o\u00e1n d\u1ef1a tr\u00ean c\u00e1c d\u1ea5u hi\u1ec7u l\u00e2m s\u00e0ng, th\u0103m d\u00f2 h\u00ecnh \u1ea3nh kh\u00f4ng x\u00e2m l\u1ea5n v\u00e0 t\u00ecnh tr\u1ea1ng \u0111\u1ed9t bi\u1ebfn c\u1ee7a gen COL3A1. \u0110\u1eb7c \u0111i\u1ec3m l\u00e2m s\u00e0ng l\u00e0 da m\u1ecfng, trong su\u1ed1t, c\u00e1c m\u1ea3ng b\u1ea7m t\u00edm l\u1edbn, khu\u00f4n m\u1eb7t \u0111\u1eb7c tr\u01b0ng (m\u0169i t\u1eb9t v\u00e0 m\u1ecfng, m\u00f4i m\u1ecfng, tai to, m\u00e1 s\u00e2u v\u00e0 c\u00e1c v\u1eb1n da h\u1ed5 tr\u00ean m\u1eb7t), s\u1ef1 tr\u01b0\u1edfng th\u00e0nh tr\u01b0\u1edbc tu\u1ed5i c\u1ee7a da.<\/p>\n

C\u00e1c c\u00e1 th\u1ec3 m\u1eafc b\u1ec7nh c\u00f3 v\u00f2ng \u0111\u1eddi ng\u1eafn h\u01a1n \u0111\u00e1ng k\u1ec3 (50% t\u1eed vong t\u1ea1i tu\u1ed5i 48) do v\u1ee1 \u0111\u1ed9t ng\u1ed9t c\u00e1c c\u01a1 quan n\u1ed9i t\u1ea1ng (\u0111\u1ea1i tr\u00e0ng, t\u1eed cung) v\u00e0 m\u1ea1ch m\u00e1u. H\u1ed9i ch\u1ee9ng n\u00e0y \u1ea3nh h\u01b0\u1edbng \u0111\u1ebfn to\u00e0n b\u1ed9 h\u1ec7 m\u1ea1ch (th\u01b0\u1eddng l\u00e0 c\u00e1c m\u1ea1ch l\u1edbn, trung b\u00ecnh) v\u00e0 tim. \u0110\u1ed9ng m\u1ea1ch th\u01b0\u1eddng b\u1ecb \u1ea3nh h\u01b0\u1edfng bao g\u1ed3m \u0111\u1ed9ng m\u1ea1ch ch\u1ee7, th\u1eadn, m\u1ea1c treo tr\u00e0ng, ch\u1eadu, \u0111\u00f9i, c\u0169ng nh\u01b0 \u0111\u1ed9ng m\u1ea1ch \u0111\u1ed1t s\u1ed1ng v\u00e0 \u0111\u1ed9ng m\u1ea1ch c\u1ea3nh (c\u1ea3 \u0111o\u1ea1n trong s\u1ecd v\u00e0 ngo\u00e0i s\u1ecd). \u0110\u1ed9ng m\u1ea1ch c\u00f3 th\u1ec3 b\u1ecb t\u00e1ch m\u00e0 kh\u00f4ng c\u00f3 ph\u00ecnh t\u1eeb tr\u01b0\u1edbc, do \u0111\u00f3 kh\u00f4ng th\u1ec3 d\u1ef1 \u0111o\u00e1n \u0111\u01b0\u1ee3c.<\/strong><\/p>\n

Ch\u1ea9n \u0111o\u00e1n h\u00ecnh \u1ea3nh kh\u00f4ng x\u00e2m l\u1ea5n l\u00e0 h\u01b0\u1edbng ti\u1ebfp c\u1eadn \u0111\u01b0\u1ee3c l\u1ef1a ch\u1ecdn \u0111\u1ec3 \u0111\u00e1nh gi\u00e1 c\u00e1c bi\u1ebfn \u0111\u1ed5i v\u1ec1 m\u1ea1ch m\u00e1u. Ph\u0201u thu\u1eadt ch\u1ec9 \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n \u0111\u1ed1i v\u1edbi c\u00e1c bi\u1ebfn ch\u1ee9ng c\u00f3 nguy c\u01a1 \u0111e d\u1ecda t\u00ednh m\u1ea1ng, b\u1edfi v\u00ec t\u00ednh m\u1ecfng manh c\u1ee7a m\u00f4 li\u00ean k\u1ebft, kh\u1ea3 n\u0103ng ch\u1ea3y m\u00e1u cao, li\u1ec1n v\u1ebft th\u01b0\u01a1ng k\u00e9m l\u00e0m t\u0103ng nguy c\u01a1 c\u1ee7a ph\u0201u thu\u1eadt. Theo d\u00f5i d\u00e0i h\u1ea1n h\u1eadu ph\u0201u l\u00e0 b\u1eaft bu\u1ed9c. Kh\u00f4ng c\u00f3 d\u1eef li\u1ec7u \u0111\u1ec3 \u0111\u01b0a ra ng\u01b0\u1ee1ng \u0111\u01b0\u1eddng k\u00ednh c\u1ea7n ph\u1ea3i can thi\u1ec7p khi c\u00f3 ph\u00ecnh \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 ng\u1ef1c. Quy\u1ebft \u0111\u1ecbnh c\u1ea7n \u0111\u01b0\u1ee3c \u0111\u01b0a ra d\u1ef1a tr\u00ean t\u1eebng tr\u01b0\u1eddng h\u1ee3p sau khi \u0111\u00e3 th\u1ea3o lu\u1eadn \u0111a chuy\u00ean khoa.<\/p>\n

4. H\u1ed9i ch\u1ee9ng Loeys-Dietz<\/h2>\n

L\u00e0 m\u1ed9t h\u1ed9i ch\u1ee9ng di truy\u1ec1n gen tr\u1ed9i tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 th\u01b0\u1eddng, \u0111\u01b0\u1ee3c m\u00f4 t\u1ea3 l\u1ea7n \u0111\u1ea7u ti\u00ean n\u0103m 2005, \u0111\u1eb7c tr\u01b0ng b\u1edfi tam ch\u1ee9ng ph\u00ecnh, xo\u1eafn v\u1eb7n tr\u00ean su\u1ed1t chi\u1ec1u d\u00e0i c\u1ee7a c\u00e2y \u0111\u1ed9ng m\u1ea1ch; s\u1ef1 c\u00e1ch xa c\u00e1c b\u1ed9 ph\u1eadn tr\u00ean c\u01a1 th\u1ec3 v\u00e0 l\u01b0\u1ee1i g\u00e0 ch\u1ebb \u0111\u00f4i; c\u0169ng nh\u01b0 ki\u1ec3u h\u00ecnh d\u1ea1ng Marfan.<\/p>\n

Trong m\u1ed9t s\u1ed1 d\u1ea1ng, h\u1ed9i ch\u1ee9ng Loeys-Dietz ch\u1ed3ng l\u1ea5p \u0111\u00e1ng k\u1ec3 v\u1edbi Ehlers-Danlos Type<\/p>\n

H\u1ed9i ch\u1ee9ng n\u00e0y do \u0111\u1ed9t bi\u1ebfn \u1edf c\u1ea3 c\u00e1c gen m\u00e3 h\u00f3a c\u00e1c receptor TGF-\u00df Type I ho\u1eb7c Type II (TGFBR1 ho\u1eb7c TGFBR2). Ch\u1ec9 s\u1ed1 xo\u1eafn v\u1eb7n \u0111\u1ed9ng m\u1ea1ch s\u1ed1ng n\u1ec1n thu \u0111\u01b0\u1ee3c khi ch\u1ee5p MRI ng\u1ef1c c\u00f3 ti\u00eam ch\u1ea5t \u0111\u1ed1i quang t\u1eeb l\u00e0 m\u1ed9t ch\u1ec9 \u0111i\u1ec3m v\u1ec1 nguy c\u01a1 bi\u1ebfn c\u1ed1 tim m\u1ea1ch, kh\u00f4ng ch\u1ec9 trong h\u1ed9i ch\u1ee9ng Loeys- Dietz m\u00e0 c\u00f2n trong c\u00e1c r\u1ed1i lo\u1ea1n m\u00f4 li\u00ean k\u1ebft kh\u00e1c nh\u01b0 h\u1ed9i ch\u1ee9ng Marfan v\u00e0 Ehlers-Danlos.<\/p>\n

\u1ede c\u00e1c tr\u1ebb c\u00f3 \u0111\u1eb7c t\u00ednh s\u1ecd m\u1eb7t c\u00e0ng r\u00f5 r\u1ec7t (ch\u1ee9ng li\u1ec1n s\u1edbm kh\u1edbp s\u1ecd, th\u1ee5t h\u00e0m, l\u00e1c ngo\u00e0i v\u00e0 s\u1ee5p m\u00ed), c\u00e1c \u0111\u1eb7c \u0111i\u1ec3m l\u00e2m s\u00e0ng n\u1eb7ng (\u0111\u1eb7c bi\u1ec7t l\u00e0 c\u00e1c t\u1ed5n th\u01b0\u01a1ng \u0111\u1ed9ng m\u1ea1ch ch\u1ee7) c\u00e0ng r\u00f5 r\u1ec7t . B\u1edfi \u0111\u1eb7c tr\u01b0ng b\u1ec7nh l\u00fd \u0111\u1ed9ng m\u1ea1ch lan t\u1ecfa v\u00e0 ti\u1ebfn tri\u1ec3n nhanh, khuy\u1ebfn c\u00e1o ph\u0201u thu\u1eadt \u0111\u01b0\u1ee3c \u0111\u01b0a ra khi \u0111\u01b0\u1eddng k\u00ednh \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 l\u00ean l\u1edbn h\u01a1n 42 mm.<\/p>\n

5. H\u1ed9i ch\u1ee9ng \u0111\u1ed9ng m\u1ea1ch xo\u1eafn v\u1eb7n (Arterial tortuosity syndrome)<\/h2>\n

L\u00e0 b\u1ec7nh l\u00fd r\u1ea5t hi\u1ebfm g\u1eb7p, di truy\u1ec1n l\u1eb7n nhi\u1ec5m s\u1eafc th\u1ec3 th\u01b0\u1eddng, \u0111\u1eb7c tr\u01b0ng b\u1edfi s\u1ef1 xo\u1eafn v\u1eb7n, k\u00e9o d\u00e0i, h\u1eb9p, ph\u00ecnh c\u1ee7a c\u00e1c \u0111\u1ed9ng m\u1ea1ch c\u1ee1 trung b\u00ecnh v\u00e0 c\u1ee1 l\u1edbn.. H\u1eb9p khu tr\u00fa t\u1ea1i \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 v\u00e0 \u0111\u1ed9ng m\u1ea1ch ph\u1ed5i c\u00f3 th\u1ec3 g\u1eb7p.<\/p>\n

B\u1ec7nh nh\u00e2n c\u00f3 khu\u00f4n m\u1eb7t \u0111\u1eb7c tr\u01b0ng (m\u1eb7t d\u00e0i, h\u1eb9p khe mi, khe mi m\u1eaft xi\u00ean xu\u1ed1ng, m\u0169i h\u00ecnh m\u1ecf chim, v\u00f2m kh\u1ea9u c\u00e1i cao v\u00e0 h\u00e0m nh\u1ecf), c\u00f9ng v\u1edbi c\u00e1c d\u1ea5u hi\u1ec7u c\u1ee7a c\u00e1c b\u1ec7nh l\u00fd m\u00f4 li\u00ean k\u1ebft n\u00f3i chung t\u1ea1i da (m\u1ec1m, d\u1ec5 k\u00e9o d\u00e3n), x\u01b0\u01a1ng (ng\u00f3n ch\u00e2n nh\u1ec7n, bi\u1ebfn d\u1ea1ng l\u1ed3ng ng\u1ef1c, l\u1ecfng kh\u1edbp) ch\u1ed3ng l\u1ea5p v\u1edbi c\u00e1c tri\u1ec7u ch\u1ee9ng c\u1ee7a h\u1ed9i ch\u1ee9ng Marfan.<\/p>\n

Ti\u00ean l\u01b0\u1ee3ng b\u1ec7nh kh\u00e1 t\u1ed1i v\u1edbi t\u1ef7 l\u1ec7 t\u1eed vong l\u00ean t\u1edbi 40% v\u00e0o n\u0103m th\u1ee9 5 c\u1ee7a cu\u1ed9c \u0111\u1eddi. Tuy v\u1eady, c\u00e1c nghi\u00ean c\u1ee9u g\u1ea7n \u0111\u00e2y h\u01a1n c\u00e1c gia \u0111\u00ecnh ch\u00e2u \u00c2u cho th\u1ea5y v\u0201n c\u00f3 c\u00e1c nh\u00f3m b\u1ec7nh nh\u00e2n v\u1edbi ki\u1ec3u h\u00ecnh nh\u1eb9 h\u01a1n c\u00f3 th\u1ec3 s\u1ed1ng s\u00f3t t\u1edbi tu\u1ed5i tr\u01b0\u1edfng th\u00e0nh.<\/p>\n

6. H\u1ed9i ch\u1ee9ng ph\u00ecnh m\u1ea1ch-vi\u00eam x\u01b0\u01a1ng kh\u1edbp (AOS: Aortic-osteoarthritis syndrome)<\/h2>\n

H\u1ed9i ch\u1ee9ng ph\u00ecnh m\u1ea1ch – vi\u00eam x\u01b0\u01a1ng kh\u1edbp l\u00e0 m\u1ed9t h\u1ed9i ch\u1ee9ng ph\u00ecnh t\u00e1ch \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 ng\u1ef1c m\u1edbi, chi\u1ebfm 2% t\u1ed5ng s\u1ed1 c\u00e1c tr\u01b0\u1eddng h\u1ee3p ph\u00ecnh t\u00e1ch \u0110M ch\u1ee7 ng\u1ef1c c\u00f3 t\u00ednh ch\u1ea5t gia \u0111\u00ecnh. B\u1ec7nh di truy\u1ec1n tr\u1ed9i tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 th\u01b0\u1eddng do \u0111\u1ed9t bi\u1ebfn gen SMAD3 , d\u0201n \u0111\u1ebfn bi\u1ec3u hi\u1ec7n qu\u00e1 m\u1ee9c c\u00e1c t\u00edn hi\u1ec7u n\u1ed9i t\u1ebf b\u00e0o c\u1ee7a h\u1ec7 TGF-0.<\/p>\n

Bi\u1ec3u hi\u1ec7n l\u00e2m s\u00e0ng l\u00e0 s\u1ef1 k\u1ebft h\u1ee3p c\u1ee7a c\u00e1c b\u1ea5t th\u01b0\u1eddng kh\u1edbp xu\u1ea5t hi\u1ec7n s\u1edbm (bao g\u1ed3m vi\u00eam x\u01b0\u01a1ng kh\u1edbp v\u00e0 vi\u00eam x\u01b0\u01a1ng s\u1ee5n t\u00e1ch r\u1eddi), v\u00e0 ph\u00ecnh, t\u00e1ch, xo\u1eafn v\u1eb7n \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 tr\u00ean to\u00e0n b\u1ed9 chi\u1ec1u d\u00e0i. C\u00e1c \u0111\u1eb7c \u0111i\u1ec3m nh\u1eb9 v\u1ec1 x\u01b0\u01a1ng h\u00e0m m\u1eb7t, da, c\u1ed9t s\u1ed1ng c\u0169ng c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c th\u1ea5y, th\u1eadm ch\u00ed b\u1ecb nh\u1ea7m l\u0201n v\u1edbi h\u1ed9i ch\u1ee9ng Marfan v\u00e0 Loeys-Dietz.<\/p>\n

Ch\u1ea9n \u0111o\u00e1n \u0111\u01b0\u1ee3c d\u1ef1a tr\u00ean d\u1ea5u hi\u1ec7u l\u00e2m s\u00e0ng v\u00e0 s\u1ef1 x\u00e1c \u0111\u1ecbnh c\u00f3 \u0111\u1ed9t bi\u1ebfn gen SMAD3. Ch\u1eb9n beta c\u00f3 th\u1ec3 c\u00f3 l\u1ee3i trong AOS, v\u00ec bi\u1ec3u hi\u1ec7n b\u1ec7nh c\u00f3 c\u00e1c \u0111i\u1ec3m t\u01b0\u01a1ng t\u1ef1 trong h\u1ed9i ch\u1ee9ng Marfan v\u00e0 Loeys-Dietz – nh\u1eefng b\u1ec7nh m\u00e0 \u0111i\u1ec1u tr\u1ecb b\u1eb1ng ch\u1eb9n beta l\u00e0 t\u1ed1i \u01b0u.<\/p>\n

7. Ph\u00ecnh, t\u00e1ch \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 ng\u1ef1c c\u00f3 t\u00ednh ch\u1ea5t gia \u0111\u00ecnh m\u00e0 kh\u00f4ng thu\u1ed9c c\u00e1c h\u1ed9i ch\u1ee9ng di truy\u1ec1n<\/h2>\n

H\u1ea7u h\u1ebft c\u00e1c b\u1ec7nh nh\u00e2n c\u00f3 ph\u00ecnh, t\u00e1ch \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 ng\u1ef1c \u0111\u1ec1u kh\u00f4ng c\u00f3 c\u00e1c h\u1ed9i ch\u1ee9ng di truy\u1ec1n \u0111\u01b0\u1ee3c bi\u1ebft tr\u01b0\u1edbc. Khi nghi\u00ean c\u1ee9u trong gia \u0111\u00ecnh c\u1ee7a c\u00e1c b\u1ec7nh nh\u00e2n n\u00e0y, c\u00f3 t\u1edbi 19% nh\u1eefng ng\u01b0\u1eddi c\u1eadn huy\u1ebft th\u1ed1ng (b\u1ed1 m\u1eb9, anh ch\u1ecb em ru\u1ed9t) b\u1ecb \u1ea3nh h\u01b0\u1edfng. B\u1ec7nh di truy\u1ec1n tr\u1ed9i tr\u00ean nhi\u1ec5m s\u1eafc th\u1ec3 th\u01b0\u1eddng nh\u01b0ng c\u00f3 t\u00ednh \u0111a d\u1ea1ng l\u00e2m s\u00e0ng cao (nh\u1ea5t l\u00e0 \u1edf ph\u1ee5 n\u1eef) v\u00e0 m\u1ee9c \u0111\u1ed9 di truy\u1ec1n \u0111\u1ed9t bi\u1ebfn thay \u0111\u1ed5i theo t\u1eebng th\u1ebf h\u1ec7. \u0110\u1ed9t bi\u1ebfn c\u00e1c gen \u0111\u00e3 k\u1ec3 tr\u00ean nh\u01b0 (FBN1, TGFBR1 v\u00e0 TGFBR2) hi\u1ebfm g\u1eb7p. M\u1ed9t s\u1ed1 \u0111\u1ed9t bi\u1ebfn \u0111\u00e3 \u0111\u01b0\u1ee3c x\u00e1c \u0111\u1ecbnh:<\/p>\n

    \n
  • \u0110\u1ed9t bi\u1ebfn gen MYH11 (m\u00e3 h\u00f3a protein myosin chu\u1ed7i n\u1eb7ng c\u1ee7a t\u1ebf b\u00e0o c\u01a1 tr\u01a1n), th\u01b0\u1eddng k\u00e8m theo c\u00f2n \u1ed1ng \u0111\u1ed9ng m\u1ea1ch.<\/li>\n
  • \u0110\u1ed9t bi\u1ebfn gen ACTA2 (m\u00e3 h\u00f3a alpha-actin \u0111\u1eb7c hi\u1ec7u c\u1ee7a t\u1ebf b\u00e0o c\u01a1 tr\u01a1n) th\u01b0\u1eddng k\u00e8m theo b\u1ec7nh l\u00fd \u0111\u1ed9ng m\u1ea1ch v\u00e0nh, \u0111\u1ed9t qu\u1ef5 ho\u1eb7c b\u1ec7nh Moyamoya.<\/li>\n
  • \u0110\u1ed9t bi\u1ebfn gen MYLK (m\u00e3 h\u00f3a myosin chu\u1ed7i n\u1eb7ng).<\/li>\n
  • \u0110\u1ed9t bi\u1ebfn gen TGFB2 (m\u00e3 h\u00f3a TGF-beta Type 2) th\u01b0\u1eddng k\u00e8m theo m\u1ed9t s\u1ed1 \u0111\u1eb7c \u0111i\u1ec3m da v\u00e0 c\u1ed9t s\u1ed1ng th\u1ea5y trong h\u1ed9i ch\u1ee9ng Marfan.<\/li>\n
  • \u0110\u1ed9t bi\u1ebfn gen PRKG1 (m\u00e3 h\u00f3a PGK I, l\u00e0 m\u1ed9t protein ph\u1ee5 thu\u1ed9c cGMP lo\u1ea1i I ki\u1ec3m so\u00e1t s\u1ef1 gi\u00e3n c\u1ee7a c\u00e1c t\u1ebf b\u00e0o c\u01a1 tr\u01a1n) d\u0201n t\u1edbi ph\u00ecnh, t\u00e1ch \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 c\u1ea5p \u1edf b\u1ec7nh nh\u00e2n tr\u1ebb tu\u1ed5i.<\/li>\n<\/ul>\n

    T\u1ea5t c\u1ea3 c\u00e1c tr\u01b0\u1eddng h\u1ee3p \u0111\u00e3 k\u1ec3 tr\u00ean cho ta th\u1ea5y m\u1ed1i li\u00ean h\u1ec7 gi\u1eefa m\u1ea5t ch\u1ee9c n\u0103ng c\u1ee7a m\u00f4 li\u00ean k\u1ebft ho\u1eb7c gi\u1ea3m t\u00edn hi\u1ec7u TGF-beta ho\u1eb7c thay \u0111\u1ed5i ch\u1ee9c n\u0103ng co c\u1ee7a c\u01a1 tr\u01a1n v\u1edbi c\u00e1c bi\u1ec3u hi\u1ec7n ph\u00ecnh v\u00e0 t\u00e1ch \u0110M ch\u1ee7 tr\u00ean l\u00e2m s\u00e0ng.<\/p>\n

    Ti\u00ean l\u01b0\u1ee3ng b\u1ec7nh hi\u1ec7n ch\u01b0a r\u00f5 r\u00e0ng. Ch\u1ea9n \u0111o\u00e1n d\u1ef1a v\u00e0o vi\u1ec7c x\u00e1c \u0111\u1ecbnh c\u00e1c h\u1ed9i ch\u1ee9ng gen \u0111\u00e3 bi\u1ebft, theo sau b\u1edfi tham v\u1ea5n v\u1ec1 gen v\u00e0 kh\u1ea3o s\u00e1t nh\u1eefng ng\u01b0\u1eddi c\u1eadn huy\u1ebft th\u1ed1ng (b\u1ed1 m\u1eb9, anh ch\u1ecb em ru\u1ed9t). Chi\u1ebfn l\u01b0\u1ee3c qu\u1ea3n l\u00fd hi\u1ec7n t\u1ea1i l\u00e0 k\u1ebft h\u1ee3p gi\u1eefa ch\u1ea9n \u0111o\u00e1n h\u00ecnh \u1ea3nh t\u1ea1i th\u1eddi \u0111i\u1ec3m ban \u0111\u1ea7u v\u00e0 theo d\u00f5i d\u1ecdc, d\u1ef1a v\u00e0o ti\u1ec1n s\u1eed gia \u0111\u00ecnh c\u1ee7a c\u00e1c bi\u1ebfn c\u1ed1 m\u1ea1ch m\u00e1u.<\/p>\n","protected":false},"excerpt":{"rendered":"

    Ph\u00ecnh v\u00e0 t\u00e1ch \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 l\u00e0 m\u1ed9t h\u1ed9i ch\u1ee9ng di truy\u1ec1n hi\u1ebfm g\u1eb7p do \u0111\u1ed9t bi\u1ebfn trong gen NF1, g\u00e2y ra s\u1ef1 ph\u00e1t tri\u1ec3n kh\u00f4ng b\u00ecnh th\u01b0\u1eddng c\u1ee7a c\u00e1c t\u1ebf b\u00e0o th\u1ea7n kinh v\u00e0 c\u00e1c m\u00f4 li\u00ean quan.\u00a0 1.H\u1ed9i ch\u1ee9ng Marfan H\u1ed9i ch\u1ee9ng Marfan l\u00e0 m\u1ed9t trong nh\u1eefng b\u1ec7nh l\u00fd r\u1ed1i lo\u1ea1n m\u00f4 li\u00ean […]<\/p>\n","protected":false},"author":7,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[7,33],"tags":[],"yoast_head":"\nPh\u00ecnh v\u00e0 t\u00e1ch \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 li\u00ean quan \u0111\u1ebfn h\u1ed9i ch\u1ee9ng di truy\u1ec1n<\/title>\n<meta name=\"description\" content=\"Ph\u00ecnh v\u00e0 t\u00e1ch \u0111\u1ed9ng m\u1ea1ch ch\u1ee7 l\u00e0 h\u1ed9i ch\u1ee9ng di truy\u1ec1n 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