Isifo se-Crigler-Najjar: yintoni, iintlobo eziphambili kunye nonyango

Umxholo

• Iintlobo eziphambili kunye neempawu
• Uhlobo lwe-Crigler-Najjar syndrome
• Uhlobo lwesifo seCrigler-Najjar 2
• Indlela yokuqinisekisa ukuxilongwa
• Unyango lwenziwa njani

Isifo seCrigler-Najjar sisifo semfuza sesibindi esibangela ukuqokelelwa kwe-bilirubin emzimbeni, ngenxa yotshintsho kwi-enzyme eguqula le nto ukuba isuswe nge-bile.

Olu tshintsho lunokuba needigri ezahlukeneyo kunye nefom yokubonakaliswa kweempawu, ke, isifo sinokuba luhlobo 1, siqine, okanye luhlobo 2, silula kwaye kulula ukusinyanga.

Ke, i-bilirubin engenakupheliswa kwaye iqokeleleke emzimbeni ibangela i-jaundice, ibangele ulusu kunye namehlo atyheli, kunye nomngcipheko wokonakaliswa kwesibindi okanye ukunxila kwengqondo.

Iintlobo eziphambili kunye neempawu

Isifo seCrigler-Najjar sinokuhlelwa ngokweendidi ezi-2, ezahlulwe ngokokungasebenzi kwe-enzyme yesibindi eguqula i-bilirubin, ebizwa ngokuba yi-glucoronyl transferase, kunye neempawu kunye nonyango.

Uhlobo lwe-Crigler-Najjar syndrome

Olu lolona hlobo lubaluleke kakhulu, kuba kukho ukungabikho ngokupheleleyo kwesibindi ekuguqulweni kwe-bilirubin, eqokelelene ngokugqithileyo egazini kwaye ibangele iimpawu nasekuzalweni.

• Iimpawu: i-jaundice eqatha ukusukela ekuzalweni, ukuba ngomnye woonobangela be-hyperbilirubinemia yosana olusandul 'ukuzalwa, kwaye kukho umngcipheko wokonakaliswa kwesibindi kunye netyhefu yobuchopho ebizwa ngokuba yi-kernicterus, apho kukho ukudideka, ukozela, ukuphazamiseka, isiqaqa kunye nomngcipheko wokufa.

Funda ngakumbi malunga nonobangela kunye nendlela yokunyanga iintlobo zehyperbilirubinemia yosana olusandul 'ukuzalwa.

Uhlobo lwesifo seCrigler-Najjar 2

Kule meko, i-enzyme eguqula i-bilirubin iphantsi kakhulu, nangona isekhona, kwaye nangona inzima kakhulu, i-jaundice ayinamandla kangako, kwaye zikhona iimpawu kunye neengxaki ezimbalwa kunohlobo lwe-1 syndrome.ubuchopho buncinci, obunokwenzeka iziqendu zebilirubin ephezulu.

• Iimpawu: i-jaundice yamandla ahlukeneyo, anokuba nobulali ukuya kubukhali, kwaye inokubonakala nakweminye iminyaka ebomini. Inokubangelwa emva koxinzelelo emzimbeni, njengosulelo okanye ukomisa, umzekelo.

Ngaphandle komngcipheko kwimpilo yomntwana kunye nobomi obubangelwa ziintlobo zesifo, kunokwenzeka ukunciphisa inani kunye nobukhali bokubonakala kunyango, ngonyango lokufota, okanye ukufakelwa kwesibindi.

Indlela yokuqinisekisa ukuxilongwa

Ukuchongwa kwesifo seCrigler-Najjar senziwa ngugqirha wabantwana, isifo sehastro okanye sehepatologist, esekwe kuvavanyo lomzimba kunye novavanyo lwegazi, olubonisa ukwanda kwamanqanaba ebilirubin, ukongeza kuvavanyo lwesibindi, kunye ne-AST, ALT kunye nealbin, umzekelo.

Uxilongo luqinisekiswa luvavanyo lwe-DNA okanye nokuba sisibindi sesibindi, esikwaziyo ukwahlula uhlobo lwesifo.

Unyango lwenziwa njani

Olona nyango luphambili lokunciphisa amanqanaba e-bilirubin emzimbeni, kwi-Crigler-Najjar syndrome type 1, yi-phototherapy ngokukhanya okuluhlaza okwesibhakabhaka ubuncinci iiyure ezili-12 ngosuku, ezinokwahluka ngokuxhomekeke kwiimfuno zomntu ngamnye.

I-Phototherapy iyasebenza kuba iyaphula kwaye iguqule i-bilirubin ukuze ikwazi ukufikelela kwi-bile kwaye isuswe ngumzimba. Olu nyango lunokuhamba kunye notofelo-gazi okanye ukusetyenziswa kweebilirubin iziyobisi ezikhohlisayo, ezinje ngecholestyramine kunye ne-calcium phosphate, ukuphucula ukusebenza kwayo, kwezinye iimeko. Funda ngakumbi malunga nezalathiso kunye nendlela esebenza ngayo ifototherapy.

Ngaphandle koku, njengoko umntwana ekhula, umzimba uyanyangeka kunyango, njengoko ulusu luya luxhathisa ngakumbi, lufuna iiyure ezininzi nangakumbi zokuthatha unyango.

Unyango lweCrigler-Najjar syndrome type 2, phototherapy yenziwa ngeentsuku zokuqala zobomi okanye, kweminye iminyaka, kuphela njengefom ehambelana nayo, kuba olu hlobo lwesifo lunempendulo elungileyo kunyango ngesiyobisi iFenobarbital, enokuthi yonyusa umsebenzi we-enzyme yesibindi ephelisa i-bilirubin nge-bile.

Nangona kunjalo, unyango oluchanekileyo lwazo naziphi na iintlobo zesifo lufezekiswa kuphela ngokufakelwa kwesibindi, apho kufanelekileyo ukufumana umnikeli ofanelekileyo kunye neemeko zomzimba zotyando. Yazi xa kubonisiwe kwaye kunjani ukubuyela kwisimo sokufakelwa kwesibindi.