Isifo seCrigler-Najjar

Isifo seCrigler-Najjar sisifo esinqabileyo esizuzwe njengelifa apho i-bilirubin ingenakwaphulwa. I-Bilirubin yinto eyenziwe sisibindi.

I-enzyme iguqula ibilirubin ibe luhlobo olunokususwa ngokulula emzimbeni. Isifo seCrigler-Najjar senzeka xa le enzyme ingasebenzi ngokuchanekileyo. Ngaphandle kwale enzyme, i-bilirubin inokwakha emzimbeni kwaye ikhokelele:

• IJaundice (umbala omthubi wolusu namehlo)
• Ukonakala kwengqondo, izihlunu, kunye nemithambo-luvo

Uhlobo I I-Crigler-Najjar luhlobo lwesifo esiqala kwangoko ebomini. Uhlobo lwe-II Crigler-Najjar syndrome lungaqala kamva ebomini.

Isifo sihamba kwiintsapho (njengelifa). Umntwana kufuneka afumane ikopi yohlobo olunesiphene kubo bobabini abazali ukuze avelise imeko yesi sifo. Abazali abathwali (benesiphene nje esinye) banesiqingatha somsebenzi womntu omdala oqhelekileyo, kodwa AKUKHO mpawu.

Iimpawu zingabandakanya:

• Ukudideka kunye notshintsho kwindlela ocinga ngayo
• Isikhumba esimthubi (i-jaundice) kunye notyheli kumhlophe ngamehlo (icterus), aqala kwiintsuku ezimbalwa emva kokuzalwa kwaye aba mandundu ngokuhamba kwexesha
• Ukuhamba
• Ukutya okungalunganga
• Ukuhlanza

Uvavanyo lomsebenzi wesibindi lubandakanya:

• Ukudibanisa (ukubopha) i-bilirubin
• Inqanaba elipheleleyo leebilirubin
• I-bilirubin engagunyaziswanga (engafakwanga) egazini.
• Uvavanyo lwe-enzyme
• Isibindi se-biopsy

Unyango olukhanyayo (i-phototherapy) luyafuneka kubomi bomntu. Kwiintsana, oku kwenziwa kusetyenziswa izibane zebilirubin (iili okanye izibane eziluhlaza ’). I-Phototherapy ayisebenzi kakuhle emva kweminyaka eyi-4, kuba ulusu olujiyileyo luthintela ukukhanya.

Ukufakelwa kwesibindi kunokwenziwa kwabanye abantu abanesifo sohlobo I.

Utofelo-gazi lunokunceda ukulawula isixa se-bilirubin egazini. Iimpawu zeCalcium ngamanye amaxesha zisetyenziselwa ukususa i-bilirubin emathunjini.

Ichiza le-phenobarbitol ngamanye amaxesha lisetyenziselwa ukunyanga uhlobo II lwe-Crigler-Najjar syndrome.

Iindlela ezinobuzaza zesifo (uhlobo II) azibangeli monakalo wesibindi okanye utshintsho kwindlela yokucinga ebuntwaneni. Abantu abachaphazeleke kwifomu ethambileyo basenayo i-jaundice, kodwa baneempawu ezimbalwa kunye nomonakalo omncinci kwilungu.

Iintsana ezinesimo esibi sesi sifo (uhlobo I) sinokuqhubeka nokuba ne-jaundice ebudaleni, kwaye sinokufuna unyango lwemihla ngemihla. Ukuba ayinyangwa, le fomu yesi sifo iya kubangela ukufa ebuntwaneni.

Abantu abakule meko abafikelela ebudaleni baya kukhula ukonakala kwengqondo ngenxa ye-jaundice (kernicterus), kwanonyango oluqhelekileyo. Ukulindelwa kobomi besi sifo I yiminyaka engama-30.

Iingxaki ezinokubakho zibandakanya:

• Uhlobo lokonakala kwengqondo olubangelwa yi-jaundice (kernicterus)
• Isikhumba / amehlo angapheliyo

Funa ingcebiso ngemfuzo ukuba ucwangcisa ukuba nabantwana kwaye unembali yosapho yeCrigler-Najjar.

Fowunela umboneleli wakho wezempilo ukuba wena okanye usana lwakho olusandul 'ukuzalwa lune-jaundice engahambiyo.

Ukucebisa ngemfuza kuyacetyiswa kubantu abanembali yosapho yeCrigler-Najjar syndrome abafuna ukuba nabantwana. Uvavanyo lwegazi lunokuchonga abantu abathwala umahluko wemfuza.

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

• I-anatomy yesibindi

UKaplan M, uWong RJ, uBurgis JC, uSibley E, uStevenson DK. Izifo ze-jaundice kunye nezifo zesibindi. Ku: UMartin RJ, uFanaroff AA, uWalsh MC, ii-eds. UFanaroff kunye noMartin's Neonatal-Perinatal Medicine. Ngomhla we-11. IPhiladelphia, PA: Elsevier; 2020: isahl. 91.

ILidofsky SD. I-jaundice. Ku: UFeldman M, uFriedman LS, uBrandt LJ, ii-eds. Sleisenger kunye neFordtran's Gastrointestinal and Liver Disease. Ngomhla we-11. IPhiladelphia, PA: Elsevier; 2021: Isahluko 21.

UPeter AL, uBalistreri WF. Izifo zemetabolic zesibindi. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 384.