Isifo se-Crigler-Najjar: siyini, izinhlobo eziyinhloko nokwelashwa

-Delile

• Izinhlobo eziyinhloko nezimpawu
• Uhlobo lwe-Crigler-Najjar syndrome 1
• Uhlobo lwe-Crigler-Najjar syndrome 2
• Ungakuqinisekisa kanjani ukuxilongwa
• Yelashwa kanjani

I-Crigler-Najjar syndrome yisifo sofuzo sesibindi esidala ukuqoqwa kwe-bilirubin emzimbeni, ngenxa yezinguquko ku-enzyme eguqula le nto ukuze iqedwe nge-bile.

Lokhu kuguqulwa kungaba neziqu ezahlukahlukene nefomu lokubonakaliswa kwezimpawu, ngakho-ke, i-syndrome ingaba uhlobo 1, iqine kakhulu, noma uhlobo lwe-2, ilula futhi kulula ukuyelapha.

Ngakho-ke, i-bilirubin engenakuqedwa futhi iqongelele emzimbeni idala i-jaundice, idale isikhumba namehlo aphuzi, kanye nengozi yokulimala kwesibindi noma ukudakwa kwengqondo.

Izinhlobo eziyinhloko nezimpawu

I-Crigler-Najjar syndrome ingahlukaniswa ngezinhlobo ezi-2, ezihlukaniswa ngezinga lokungasebenzi kwe-enzyme yesibindi eguqula i-bilirubin, ebizwa nge-glucoronyl transferase, futhi nangezimpawu nokwelashwa.

Uhlobo lwe-Crigler-Najjar syndrome 1

Luhlobo olubi kakhulu, njengoba kukhona ukungabikho okuphelele komsebenzi wesibindi ekuguqulweni kwe-bilirubin, eqoqwe ngokweqile egazini futhi ibangele izimpawu ngisho nasekuzalweni.

• Izimpawu: i-jaundice ebucayi selokhu yazalwa, ingenye yezimbangela ze-hyperbilirubinemia yengane esanda kuzalwa, futhi kunengozi yokulimala kwesibindi kanye nobuthi obubizwa nge-kernicterus, lapho kuba khona ukudideka, ukozela, ukuyaluza, ikhoma nobungozi bokufa.

Funda kabanzi mayelana nokuthi kubangelwa yini nokuthi ungazilapha kanjani izinhlobo ze-hyperbilirubinemia yengane esanda kuzalwa.

Uhlobo lwe-Crigler-Najjar syndrome 2

Kulokhu, i-enzyme eguqula i-bilirubin iphansi kakhulu, yize isekhona, futhi yize inamandla kakhulu, i-jaundice ayinamandla kangako, futhi kunezimpawu nezinkinga ezimbalwa kune-type 1. syndrome nayo incane, engenzeka iziqephu ze-bilirubin ephakeme.

• Izimpawu: i-jaundice yokuqina okuhlukahlukene, okungaba mnene kuye kokubi, futhi kungavela kweminye iminyaka kuyo yonke impilo. Kungabangelwa futhi ngemuva kokucindezeleka okuthile emzimbeni, njengokutheleleka noma ukuphelelwa amandla emzimbeni, isibonelo.

Naphezu kobungozi empilweni nasempilweni yengane ebangelwa izinhlobo zalesi sifo, kungenzeka ukunciphisa inani nobukhulu bokubonakaliswa ngokwelashwa, nge-phototherapy, noma ukufakelwa kwesibindi.

Ungakuqinisekisa kanjani ukuxilongwa

Ukuxilongwa kwe-Crigler-Najjar syndrome kwenziwa udokotela wezingane, i-gastro noma i-hepatologist, ngokususelwa ekuhlolweni komzimba nasekuhlolweni kwegazi, okukhombisa ukwanda kwamazinga e-bilirubin, ngaphezu kokuhlolwa kokusebenza kwesibindi, ne-AST, ALT ne-albin, isibonelo.

Ukuxilongwa kuqinisekiswa ukuhlolwa kwe-DNA noma yi-biopsy yesibindi, ekwazi ukuhlukanisa uhlobo lwesifo.

Yelashwa kanjani

Ukwelashwa okuyinhloko okwehlisa amazinga e-bilirubin emzimbeni, kuCrigler-Najjar syndrome type 1, i-phototherapy ngokukhanya okuluhlaza okwesibhakabhaka okungenani amahora ayi-12 ngosuku, angahluka ngokuya ngezidingo zomuntu ngamunye.

I-Phototherapy iyasebenza ngoba yehla futhi iguqule i-bilirubin ukuze ikwazi ukufinyelela enyameni futhi isuswe ngumzimba. Lokhu kwelashwa kungaphelezelwa nokumpontshelwa igazi noma ukusetshenziswa kwezidakamizwa ezilahlekisayo ze-bilirubin, njenge cholestyramine ne calcium phosphate, ukwenza ngcono ukusebenza kwayo, kwezinye izimo. Funda kabanzi mayelana nezinkomba nokuthi i-phototherapy isebenza kanjani.

Ngaphandle kwalokhu, njengoba ingane ikhula, umzimba uyahluleka ukumelana nokwelashwa, njengoba isikhumba siba namandla kakhulu, sidinga amahora amaningi nangaphezulu we-phototherapy.

Ekwelapheni i-Crigler-Najjar syndrome type 2, i-phototherapy yenziwa ezinsukwini zokuqala zokuphila noma, kweminye iminyaka, yenziwa kuphela njengefomu elihambisanayo, njengoba lolu hlobo lwesifo lunempendulo enhle ekwelashweni ngomuthi i-Fenobarbital, ukwandisa umsebenzi we-enzyme yesibindi esusa i-bilirubin nge-bile.

Kodwa-ke, ukwelashwa okucacile kwanoma yiluphi uhlobo lwe-syndrome kutholakala kuphela ngokufakelwa kwesibindi, lapho kudingeka khona ukuthola umnikeli ofanele futhi abe nezimo zomzimba zokuhlinzwa. Yazi lapho kuboniswa futhi kanjani ukululama ekufakelweni kwesibindi.