Crigler-Najjar syndrome: nws yog dab tsi, hom tseem ceeb thiab kev kho mob

Zoo Siab

• Lub ntsiab hom thiab tsos mob
• Crigler-Najjar syndrome hom 1
• Crigler-Najjar syndrome hom 2
• Yuav ua li cas kom paub meej tias kuaj mob
• Yuav kho tus mob li cas

Crigler-Najjar syndrome yog yam caj ces ntawm lub siab uas ua rau tsub zuj zuj ntawm bilirubin hauv lub cev, vim yog hloov pauv hauv cov enzyme uas hloov cov tshuaj no rau nws tshem tawm los ntawm cov kua tsib.

Qhov kev hloov pauv no tuaj yeem muaj qib sib txawv thiab cov qauv ntawm cov tsos mob tshwm sim, yog li ntawd, cov tsos mob tuaj yeem yog hom 1, hnyav dua, lossis hom 2, sib dua thiab kho tau yooj yim.

Yog li, bilirubin uas tsis tuaj yeem tshem tawm thiab nthuav tawm hauv lub cev ua rau mob daj ntseg, ua rau tawv nqaij daj thiab qhov muag, thiab muaj kev pheej hmoo ua mob rau daim siab lossis mob hlwb.

Lub ntsiab hom thiab tsos mob

Crigler-Najjar syndrome tuaj yeem muab faib ua 2 hom, uas sib txawv los ntawm qhov tsis muaj zog ntawm lub siab enzyme uas hloov cov bilirubin, hu ua glucoronyl transferase, thiab tseem los ntawm cov tsos mob thiab kev kho mob.

Crigler-Najjar syndrome hom 1

Nws yog hom hnyav tshaj plaws, vim tias muaj tag nrho lub siab tsis ua haujlwm lub siab rau kev hloov pauv ntawm bilirubin, uas tau sau ntau ntxiv rau hauv cov ntshav thiab ua rau cov tsos mob txawm tias thaum yug los.

• Cov tsos mob: mob siab tawv nqaij txij thaum yug los, yog ib qho ua rau hyperbilirubinemia ntawm tus menyuam yug tshiab, thiab muaj kev pheej hmoo ua mob rau daim siab thiab mob hlwb hu ua kernicterus, nyob rau hauv uas muaj kev tsis taus, tsaug zog, ntxhov siab, tsis nco qab thiab muaj kev pheej hmoo tuag.

Kawm kom paub ntau ntxiv txog yam dab tsi ua rau nws thiab yuav kho cov hom hyperbilirubinemia ntawm tus menyuam mos liab li cas.

Crigler-Najjar syndrome hom 2

Hauv qhov no, cov enzyme uas hloov bilirubin tsawg heev, txawm hais tias tseem muaj tam sim no, thiab txawm hais tias nws tseem loj, mob daj ntseg tsis tshua mob siab, thiab nws muaj tsawg dua cov tsos mob thiab cov teeb meem ntau dua li yam mob 1 mob hlwb kuj tseem me dua, uas tuaj yeem tshwm sim hauv ntu kev hloov pauv ntawm bilirubin.

• Cov tsos mob: qhov muag daj ntawm ntau yam sib txawv, uas tuaj yeem mob sib kis mus rau mob hnyav, thiab tuaj yeem tshwm sim rau lwm xyoo nyob rau lub neej. Nws kuj tuaj yeem tshwm sim tom qab qee qhov kev ntxhov siab hauv lub cev, xws li muaj kev kis tus mob lossis lub cev qhuav dej, piv txwv.

Txawm hais tias muaj kev pheej hmoo rau tus menyuam txoj kev noj qab haus huv thiab lub neej tshwm sim los ntawm hom mob no, nws tuaj yeem txo qis tus naj npawb thiab qhov mob ntawm cov kev mob tshwm sim nrog kev kho mob, nrog phototherapy, lossis txawm lub siab hloov.

Yuav ua li cas kom paub meej tias kuaj mob

Kev kuaj mob ntawm tus mob Crigler-Najjar yog tsim los ntawm tus kws kho mob yug menyuam, mob plab lossis kws kho mob, raws li kev kuaj lub cev thiab kuaj ntshav, uas qhia kev nce bilirubin ntau ntxiv, ntxiv rau kev soj ntsuam daim siab ua haujlwm, nrog AST, ALT thiab albumin, rau Piv txwv li.

Kev kuaj mob tau lees paub los ntawm DNA cov kev kuaj lossis txawm tias los ntawm daim siab ua haujlwm, uas tuaj yeem sib txawv ntawm cov tsos mob.

Yuav kho tus mob li cas

Cov kev kho mob tseem ceeb rau txo qis bilirubin hauv lub cev, hauv Crigler-Najjar syndrome hom 1, yog kev kho duab nrog xiav lub teeb rau tsawg kawg 12 teev hauv ib hnub, uas tuaj yeem sib txawv raws li qhov xav tau ntawm txhua tus neeg.

Kev kho kom zoo yog siv tau vim tias nws tawg thiab hloov bilirubin kom nws tuaj yeem ncav cuag cov kua tsib thiab tshem tawm los ntawm lub cev. Cov kev kho no tseem tuaj yeem nrog cov ntshav ntxiv lossis siv cov tshuaj bilirubin chelating, xws li cholestyramine thiab calcium phosphate, txhawm rau txhim kho nws cov txiaj ntsig, qee qhov xwm txheej. Kawm ntxiv txog qhov ntsuas thiab seb kev pleev duab ua haujlwm li cas.

Dua li ntawm qhov no, thaum tus menyuam loj tuaj, lub cev tiv thaiv kev kho mob, vim cov tawv nqaij yuav tiv taus ntau, uas yuav tsum tau siv cov xuabmoos ntau dua thiab ntau teev.

Txog kev kho mob ntawm Crigler-Najjar syndrome hom 2, kev kho mob duab los ua thawj hnub ntawm lub neej lossis lwm lub hnub nyoog, tsuas yog ua cov tshuaj ntxiv, vim hom mob no muaj cov lus teb zoo rau kev kho nrog Fenobarbital, uas tej zaum nce kev ua si ntawm daim siab enzyme uas tshem tawm bilirubin los ntawm bile.

Txawm li cas los xij, cov kev kho mob tseeb rau ib qho twg ntawm tus mob tsuas yog ua tiav nrog daim siab hloov chaw, nyob rau hauv uas nws yog qhov tsim nyog yuav tsum nrhiav tus neeg muaj peev xwm sib haum xeeb thiab muaj mob lub cev rau kev phais mob. Paub thaum twg nws yog qhia thiab yuav ua li cas yog rov qab los ntawm daim siab hloov ntshav.