21.12.2014BYBHANH1142

Bnh n Xut huyt tiu ha, Tun 2, Bi Hiu Anh, Y2009A, T5

Chuyn tun 7: BnhWilson

Thng Su 18, 2012 bilammyhuyen

Mt lng nh ng thu c t thc n l cn thit gi sc khe, nhng qu nhiu cht ng c th c hi.Thng thng, gan s phng thch ng d tha vo trong ng mt.Vi bnhWilson, iu ny khng xy ra

nh ngha

Bnh Wilson l mt ri lon di truyn ngn chn c th loi b ng d.

Trong bnhWilson, ng tch t trong no, gan, mt, v cc c quan khc.Theo thi gian, mc ng cao c th gy ra tn thng c quan e da tnh mng.

Ai d b bnh Wilson?

Nhng ngi bnhWilsontha hng hai bn sao bt thng ca ccgenATP7B, t cha m.Ngi mang mm bnhWilsonl ngi ch c mt bn sao ca gen bt thng, khng c triu chng.Hu ht mi ngi bnhWilsonkhng c bit c tin s gia nh vi bnh.C hi b bnhWilsons tng ln nu mt hoc c hai cha m c n.

Trong s 40000 ngi s c 1 ngi b bnhWilson.Cc triu chng thng xut hin tui t 5-35, nhng trng hp mi c bo co nhng ngi tui t 2 n 72

Nguyn nhn gy bnh Wilson

Bnh Wilson c gy ra bi s tch t ca ng trong c th.Thng thng, ng t ch n ung c lc ra bi gan v c a vo trong ng mt, chy ra khi c th qua ng tiu ha.Nhng ngi c bnhWilsonkhng th phng thch ng t gan vi mt tc bnh thng, do mt t bin ca ccgenATP7B.Khi lng ng tch tr vt qu kh nng ca gan th ng c phng thch vo mu v i n c quan, bao gm c no, thn, v i mt.

Cc triu chng ca bnh Wilson

Bnh Wilson u tin tn cng gan, h thng thn kinh trung ng, hoc c hai.

Mt s tch t ng trong gan c th gy ra bnh gan.Him khi, suy gan cp tnh xy ra, hu ht cc bnh nhn pht trin cc du hiu v triu chng i km vi bnh gan mn tnh, bao gm:

Sng gan hoc l lch

Vng da v lng trng ca mt

T dch chn hoc bng

D bm tm

Mt mi

Mt s tch t ng trong h thng thn kinh trung ng c th dn n triu chng thn kinh, bao gm:

Gp vn vi pht biu, nut, hoc phi hp vt l

Chuyn ng khng kim sot c

Cng c

Thay i hnh vi

Nhng du hiu v triu chng ca bnh Wilson

Thiu mu

Tiu cu thp

Chm ng mu, o bng mt xt nghim mu

Mc cao cc axit amin, protein, acid uric, v carbohydrate trong nc tiu

Sm b bnh long xng v vim khp

Vng Kayser Fleischer l kt qu t mt s tch t ng trong mt v l du hiu c o nht ca bnhWilson.Chng xut hin trong mi mt nh mt vng g mu nu xung quanh cc cnh ca mng mt v mp ca gic mc.

Chun on bnh Wilson

Bnh Wilson c pht hin qua khm sc khe v kim tra phng th nghim.

Trong qu trnh kim tra vt l, mt bc s s xem xt cc du hiu nhn thy c ca bnhWilson.Mt nh sng c bit gi l n khe c s dng tm vng Kayser-Fleischer trong mt.Vng Kayser-Fleischer c mt trong hu nh tt c nhng ngi b bnhWilson

Phng th nghim kim tra o lng ng trong mu, nc tiu, v cc m gan.Hu ht mi ngi vi bnhWilsons c mt mc ng cao hn so vi ngi bnh thng v c mc thp ceruloplasmin , mt protein vn chuyn ng trong mu.Trong trng hp suy gan cp tnh gy ra bi bnhWilson, mc ng trong mu thng cao hn bnh thng.Mt b xt nghim nc tiu 24 gi s hin th ng tng trong nc tiu trong hu ht cc bnh nhn c cc triu chng bnh.

Sinh thit gan c th cho bit gan gi li ng qu nhiu.Cc phn tch ca sinh thit t bo gan bng knh hin vi pht hin tn thng gan, thng cho thy mt m hnh c o ca bnhWilson.

Th nghim di truyn c th gip chn on bnhWilson mt s ngi, c bit l nhng ngi c tin s gia nh ca bnh.

Bnh Wilson c th b chn on nhm bi v n him gp v cc triu chng ca n l tng t nh mt s bnh khc

iu tr

Bnh Wilson i hi phi iu tr sut i gim v kim sot s lng ng trong c th.

iu tr ban u bao gm vic loi b cc ng tha, gim lng ng, v iu tr tn thng gan hoc thit hi h thng thn kinh trung ng.

Cc loi thuc d-penicillamine (Cuprimine) v hydrochloride trientine (Syprine) s phng thch ng t cc c quan vo mu.Hu ht ng sau c lc bi thn v bi tit qua nc tiu.Mt tc dng ph tim nng ln ca c hai loi thuc l triu chng thn kinh c th tr nn ti t hn-mt kt qu c th do ng mi c phng thch b ti hp thu bi h thng thn kinh trung ng.Khong 20 n 30% bnh nhn c iu tr bng cch s dng d-penicillamine cng s gp phn ng vi thuc, bao gm st, pht ban, v cc hiu ng khc lin quan n ma ty cho thn v ty xng.Nguy c ca phn ng thuc v triu chng thn kinh ngy cng ti t xut hin thp hn khi s dng hydrochloride trientine, v th nn l la chn u tin iu tr cc bnh nhn c triu chng.

Ph n mang thai nn dng mt liu thp ca d-penicillamine hoc trientine hydrochloride trong thai k gim nguy c d tt bm sinh.

iu tr duy tr bt u t khi c triu chng n khi th nghim cho thy rng ng c gim n mt mc an ton.iu tr duy tr thng bao gm km v liu thp ca mt trong hai d-penicillamine hoc trientine hydrochloride.Mu v nc tiu nn c gim st m bo gi ng mc an ton.

Nhng ngi bnhWilsonnn lm gim lng ng trong ch n ung.Khng nn n tm, cua, s, hn hoc gan, v chng l nhng thc phm c th cha hm lng ng cao.Cc thc phm khc c nhiu ng bao gm c nm, cc loi ht, v scla nn trnh trong qu trnh iu tr ban u, nhng trong nhiu trng hp, c th c n mc va phi trong qu trnh iu tr duy tr.Nhng ngi c bnhWilsonnn kim tra nc ung xem c cha ng khng v khng nn dng vitamin tng hp c cha ng.

Nu ri lon c pht hin sm v iu tr hiu qu, nhng ngi bnhWilsonc th tn hng mt sc khe tt.

BNH WILSON

1.TNG QUAN:

Bnh Wilson l mt loi ri lon gen di truyn ,lm cho c th khng th thi lng ng d.C th bnh thng hp thu mt lng ng cn thit qua thc n, nhng nu lng ng qu nhiu s gy c hi cho c th. bnh Wilson, ng tch ly ( ng) gan, no, mt v cc c quan khc.Qua thi gian, lng ng cao c th gy tn thng cc c quan-nguy him n tnh mng.

2.YU T NGUY C:

Nhng ngi mc bnh Wilson l nhng ngi mang 2 bn sao bt thng ca gen ATP7B t c cha v m.Ngi mang mm bnh Wilson- ngi ch mang 1 bn sao bt thng th khng c triu chng.a s nhng ngi mc bnh Wilson ny khng c tin cn gia nh v bnh ny.Kh nng mt ngi mc bnh Wilson tng ln khi cha hoc m hoc c cha v m mc bnh.

Tn xut mc bnh Wilson l khong 1:40.000 vi kh nng mc bnh nam v n l nh nhau.Cc triu chng thng xut hin tui 5-35 ,tuy nhin cc trng hp c bo co th ngi mc bnh tui 2-72.

3.SINH L BNH:

Bnh Wilson gy nn bi s ng ng trong c th.Bnh thng ng c gan lc , i theo ng mt v c thi ra khi c th qua ng tiu ha. nhng ngi mc bnh Wilson,t bin gen ATP7B lm cho gan khng thi ng ra khi c th.Khi lng ng trong gan tng qu ngng gii hn, ng s c a vo mu v n cc c quan khc bao gm no, thn v mt.

4.CC TRIU CHNG BNH:

Bnh Wilson tn cng u tin vo gan, h thn kinh trung ng hoc c hai.

a/S ng ng gan gy nn cc bnh l v gan.Suy gan cp tnh thng him xy ra, a s cc bnh nhn pht hin ra cc du hiu v triu chng i km vi bnh l gan mn, bao gm:

Gan to hoc lch to

Vng da hoc cng mc mt vng

Bng bng hoc ph

C khuynh hng d xut huyt ( vt bm mu )

Mt mi

b/S tch t ng h thn kinh trung ng c th dn n cc triu chng thn kinh, bao gm:

Cc vn v ngn ng (li ni ), nut hoc phi hp vn ng

Run hoc khng kim sat c hnh ng

Co cng c

Thay i hnh vi c x

c/Cc triu chng v du hiu khc ca bnh Wilson bao gm:

Thiu mu

Gim s lng tiu cu v bch cu

Mu kh ng, c nh gi qua xt nghim mu

Nng acid amin, protein, acid uric, carbohydrate trong nc tiu cao

Nhng du hiu ca long xng, vim khp giai on u

d/Du hiu vng Keyser- Fleischerc hnh thnh do s lng ng ca ng trong mt- l nhng vng trn mu nu cnh mng mt v ra ca gic mc ldu hiu c trng nhtca bnh Wison.Vng Keyser-Fleischer thy c 90% s bnh nhn mc bnh Wilson v hu nh lun km theo cc du hiu thn kinh.

.

5.PHNG PHP TIP CN CN NHC:

Du hiu vng Keyser- Fleischer v nng Ceruloplasmin trong huyt thanh thp hn 20mg/dL ( s liu tham chiu 20-40 mg/dL ) mt bnh nhn c triu chng hay du hiu thn kinh c chn on l mc bnh Wilson.Ceruloplasmin l cht phn ng trong giai on cp tnh,tng ln p ng vi vim gan , mang thai, s dng estrogen hoc nhim trng,Nng ceruloplasmin gim thp cho thy tnh trng thiu ht protein bao gm hi chng thn h, km hp thu,suy dinh dng

T l bi tit ng trong nc tiu ln hn 100mg/ngy (s liu tham chiu 250 mcg/g trng lng kh (s liu tham chiu 15-55 mcg/g ) l tiu chun chn on bnh Wilson d bnh nhn cha xut hin triu chng.

Bnh Wilson l bnh ri lon trao i ng, y l bnh di truyn ln trn NST thng.Biu hinc trngca bnh ls lng ng qu mc ng trong gan, no, v cc m khc. V mtsinh lth ychnh l s hp thuqu mc ngrut non v gim bi tit nggan.Bnh Wilsonban u thng xut hin vi biu hin gantrong vng 10 nm t lc sinh hn l nhng biu hin do nh hng no b, vxy ra nhng bnh nhn khong 20 n 30 tui.Mun chn on bnh cn da voceruloplasmin(protein d tr ng)trong huyt thanh,ng trong nc tiu, vng Kayser-Fleischer,lng ng trong gan khi sinh thit.ylbnhhim gptrnlm sng, bnh Wilsonthrt quan trng bi v nsgy t vong nu khng cchn onv iu tr. Thng bnh khng c chn on cho n khi bnh nhn trng thnh mc d bnh nhn c nhng biu hin thi nin thiu.

Cc giai on ca bnh:Bnh Wilson c th c chia thnh 4 giai on Giai on I Giai on u ca s tch ly ngtrong gan Giai on II Ti phn phi cptnhng trong gan vphng thch vo h tun hon Giai on III S tch t mn tnh ng trong no v cc m khc ngoi gan, bnh l tin trin v cui cng gy t vong Giai on IV S cn bngcang viiu tr bng tc nhn chelate mn tnhNguyn nhnBnh thng c tnh tng sng trong c th khong50-100 mg. ng l mt thnh phn quan trng ca cc enzym chuyn ha,kc lysyl oxidase, cytochrome c oxidase, superoxide dismutase, v dopamine beta-hydroxylase. ngc rut hp thuv vn chuynivo t bo gan nguyn vn trong bnh Wilson. Sau khi ng n cc t bo gan, n c kt hpving c cha cc enzym,kcceruloplasmin. ng d tha c th c tr li khng c hi bng cch hnh thnh phc hp vi apo-metallothionein sn xut ng metallothionein, hoc n c th c bi tit vo trong ng mt.TrongbnhWilson, cc qu trnh kt hp ng vo ceruloplasmin v bi tit ng d tha vo mtskmi.Hu ht cc bnh nhn mang t bin khc nhau trn mi 2 nhim sc th ca h. Hn 40 t bin khc nhau c xc nh, ph bin nht trong s lt binhistidinethnhglutamine (H1069Q).Trong bnh Wilson, lng ng d tha sthc y s hnh thnhccgc t do trong qu trnh oxy hacccht bo v protein.Nhng bt thngtrong giai on sm nht ca tn thng t bo gan, lin quan n li nisinhcht, ti th, peroxisomev nhn. Ban u,ng tch t trong gan tng ln s nh hng n t bo gan.ng d tha s c a ra tun hon i n cc c quan khc trong c th.

Duhiuc trngnhtcaktqubnhWilsonls tch tngtrong mt.Nhng vng trn nygilvngKayserFleischer

95%bnh nhn mc bnhWilsonc biu hindu hiuthn kinhscvngKayser-Fleischervt l65%bnh nhn mc bnhWilsonc biu hindu hiugan.Dch tTi Hoa K,bnh Wilsonxut hin vi tn s 1/30.000.Trn th gii, t l mc bnh ca Wilson l 10-30 triu trng hp, v t l ngi mang d hp t l 1%, vi tn s t bin di truyn khc nhaut0.3-0.7%. Ti Nht Bn,t l ny l 1/30.000, so vit l 1/100.00ti c. Tn s tng mt s nc c quan h huyt thng cao.Bnh Wilsonxy raph bin ph n hnl nam gii.Tui-lin quan nbiu hin bnhMt nghin cuccho thybnh nhn b bnh Wilsonxut hin cctriu chnggantrong tui sm hn 15 tui trong khi cc triu chng thn kinhthng xut hin sau 20.8 tui.Thomas v cc ng nghip xem xt cc t bin gen ATP7B, vh pht hinthy mt khong rng tui khi pht ca bnh Wilson, c l rng hn so viin hnh trc y. t bin hon ton ph v cc genc th dn nbnh gan trong thi th u,trong mt thi gian th bnh Wilson khngcngh titrong chn on phn bit.Ni chung, gii hntuitrntrong bnh wilsonl 40 nm v gii hn tui thp hn l 5 nm, mc d chng ri lon ny c pht hin tr em di 3 nm v ngi ln trn 70 tui.Tin lngBnh nhn vis im l7 hoc cao hn cn cho ghp gan(Bng 1). Tt c cc bnh nhn vt qu s im ny cht trong vng 2 thng chn on mc dc iu trthch hp.Bng 1. Ch s tin lng trong vim gan Wilson kch pht

im

0

1

2

3

4

Bilirubin huyt thanh(3-20 mmol/L)

300

AST huyt thanh(7-40 IU/L)

300

PT ko di (s)

30

Tin lng

Tin lng sau khi cy ghp gan l tng i tt. Trong mt nghin cu 55 bnh nhnbnh Wilsonsaughp gan, t l sng 1 nm l 79% v t l sng st3 thng-20 nm l 72 %.Cc bin chng

Cc bin chng nng bnh nhn mc bnh Wilsonnukhng c iu tr l suy gan v mt bnhmn tnh,sau n x gan, mt mi, chn n, vng da,u mch, lch to,bng bng. Chy mu t tnh mch, bnh no gan, hi chng gan thn, v ri lon ng mu. Bnh nhn thng t vong 30 tui nu khng c ghp gan.