Gülşah GÜVEN, Abdülkadir BOZAYKUT, Pulat Lale SEREN, Demet OĞUZ, Serap KARAMAN

Crigler-Najjar tip 1 sendromuna bağlı uzamış unkonjuge hiperbilirubinemi: Olgu sunumu

Crigler-Najjar Sendromu (CNS) üridin difosfoglukronozil transferaz (UGT) enziminin yokluğu ya da azlığı nedeni ile oluşan bilirubin metabolizmasının nadir görülen bir bozukluğudur. Uzamış sarılık nedeni ile başvuran iki aylık kız hastaya CNS Tip l tanısı konularak fototerapi uygulandı. Tanı unkonjuge hiperbilirubinemi yapan diğer nedenlerin ekarte edilmesi, klinik gidişat ve fenobarbitale cevaba göre konuldu. CNS Tip l tanısının doğru olarak konulması prognoz ve tedavi açısından önem arz eder. Tedavi bilirubini uzaklaştıran fototerapi ve exchange transfüzyon gibi yöntemlerin agresif uygulanımım kapsamakla birlikte kesin tedavi karaciğer transplan tasyonudur.

Anahtar Kelimeler:

Olgu sunumu, Crigler-Najjar sendromu, Glukuronosiltransferaz, Süt çocuğu, yenidoğan

Prolonged unconjugated hyperbilirubinemia associated with Crigler-Najjar type 1 syndrome: Case report

Crigler-Najjar syndrome (CNS) is a rare disorder of bilirubin metabolism caused by the lack or deficiency of the enzyme uridine diphosphate (UDP)- glucuronosyltransferase (UGT). A 2-month-old girl here presented with prolonged jaundice was diagnosed with CNS Type 1 and had been treated by phototherapy. Final diagnose was made after excluding other more common causes of unconjugated hyperbilirubinemia, reviewing the clinical course and response to phenobarbital. Accurate diagnosis of Crigler-Najjar syndrome is important because of the implications for prognosis and treatment. Treatment of CNS Tip 1 consists of the aggressive use of measures to remove bilirubin ( either phototherapy or exchange transfusion), while liver transplantation is the definitive treatment

Keywords:

Case report, Crigler-Najjar Syndrome, Glucuronosyltransferase, Infant, Newborn,

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