Isifo se-Crigler-Najjar

Isifo seCrigler-Najjar yisifo esivela kancane kakhulu esizuzwe njengefa lapho i-bilirubin ingenakwehlukaniswa khona. I-Bilirubin yinto eyenziwe yisibindi.

I-enzyme iguqula i-bilirubin ibe ifomu elingasuswa kalula emzimbeni. Isifo se-Crigler-Najjar senzeka lapho le enzyme ingasebenzi kahle. Ngaphandle kwale enzyme, i-bilirubin ingakha emzimbeni futhi iholele ku:

• I-jaundice (ukushintsha kombala okuphuzi kwesikhumba namehlo)
• Ukulimala kobuchopho, imisipha nezinzwa

Uhlobo I Crigler-Najjar luhlobo lwesifo oluqala ekuqaleni kwempilo. Uhlobo lwe-II Crigler-Najjar syndrome lungaqala kamuva empilweni.

Lesi sifo sisebenza emindenini (ezuzwe njengefa). Ingane kufanele ithole ikhophi yesakhi esibi esivela kubazali bobabili ukuze ithuthukise isimo esibi sesimo. Abazali abathwali (abanezakhi zofuzo ezinesici esisodwa) banesigamu somsebenzi we-enzyme womuntu omdala ojwayelekile, kodwa UNGABI nazo izimpawu.

Izimpawu zingafaka:

• Ukudideka nezinguquko ekucabangeni
• Isikhumba esiphuzi (i-jaundice) nephuzi kokumhlophe kwamehlo (icterus), okuqala ezinsukwini ezimbalwa emva kokuzalwa futhi kubhebhetheke ngokuhamba kwesikhathi
• Imikhuba emibi
• Ukudla okungafanele
• Ukuhlanza

Ukuhlolwa kokusebenza kwesibindi kufaka:

• I-bilirubin ehlanganisiwe (eboshiwe)
• Izinga eliphelele le-bilirubin
• I-bilirubin engavunyelwe (engaboshiwe) egazini.
• Ukuhlolwa kwe-enzyme
• I-biopsy yesibindi

Ukwelashwa okulula (i-phototherapy) kuyadingeka kuyo yonke impilo yomuntu. Ezinsaneni, lokhu kwenziwa kusetshenziswa amalambu e-bilirubin (i-bili noma i-’blue ’light). I-Phototherapy ayisebenzi futhi ngemuva kweminyaka yobudala engu-4, ngoba isikhumba esijiyile sivimba ukukhanya.

Ukufakelwa kwesibindi kungenziwa kwabanye abantu abanesifo sohlobo I.

Ukumpontshelwa igazi kungasiza ekulawuleni inani le-bilirubin egazini. Amakhemikhali e-calcium kwesinye isikhathi asetshenziselwa ukukhipha i-bilirubin emathunjini.

Isidakamizwa i-phenobarbitol kwesinye isikhathi sisetshenziselwa ukwelapha uhlobo II Crigler-Najjar syndrome.

Izinhlobo ezinzima zesifo (uhlobo II) azibangeli ukulimala kwesibindi noma izinguquko ekucabangeni ngesikhathi sobuntwana. Abantu abathintekayo ngefomu elithambile basenayo i-jaundice, kepha banezimpawu ezimbalwa nokulimala komzimba okuncane.

Izinsana ezinesifo esibi (uhlobo I) zingaqhubeka nokuba ne-jaundice lapho sezikhulile, futhi zingadinga ukwelashwa nsuku zonke. Uma singelashwa, lesi sifo esinzima sizoholela ekufeni ebuntwaneni.

Abantu abanalesi simo abafinyelela ebudaleni bazokwakha ukulimala kobuchopho ngenxa ye-jaundice (kernicterus), noma ngabe belashwa njalo. Isikhathi sokuphila sesifo sohlobo I yiminyaka engama-30.

Izinkinga ezingaba khona zifaka:

• Uhlobo lokulimala kobuchopho olubangelwa i-jaundice (kernicterus)
• Isikhumba / amehlo aphuzi angapheli

Funa ukwelulekwa ngezakhi zofuzo uma uhlela ukuba nezingane futhi ube nomlando womndeni kaCrigler-Najjar.

Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma wena noma usana lwakho olusanda kuzalwa lune-jaundice engapheli.

Ukwelulekwa ngofuzo kunconyelwa abantu abanomlando womndeni we-Crigler-Najjar syndrome abafuna ukuba nezingane. Ukuhlolwa kwegazi kungakhomba abantu abathwala ukuhlukahluka kofuzo.

Ukushoda kweGlucuronyl transferase (uhlobo I Crigler-Najjar); I-Arias syndrome (uhlobo II Crigler-Najjar)

• I-anatomy yesibindi

UKaplan M, Wong RJ, uBurgis JC, uSibley E, uStevenson DK. Izifo ze-jaundice zesibindi kanye nezifo zesibindi. Ku: Martin RJ, Fanaroff AA, Walsh MC, ama-eds. UFanaroff kanye neMithi kaMartin's Neonatal-Perinatal Medicine. Umhla ka-11. IPhiladelphia, PA: Elsevier; 2020: isahluko 91.

ILidofsky SD. I-jaundice. Ku: Feldman M, Friedman LS, Brandt LJ, ama-eds. Sleisenger kanye neFordtran's Gastrointestinal and Liver Disease. Umhla ka-11. IPhiladelphia, PA: Elsevier; 2021: isahluko 21.

UPeters AL, uBalistreri WF. Izifo zemetabolic kwesibindi. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 384.