Nair Karippoth Mohandas, Lohse Peter, Nampoothiri Sheela
Department of Pediatrics, Medical College, Calicut, Kerala, India.
Indian J Hum Genet. 2012 May;18(2):233-4. doi: 10.4103/0971-6866.100776.
Crigler-Najjar syndrome type 2 is a rare cause for persistent unconjugated hyperbilirubinemia, inherited in an autosomal recessive manner. Even though it is compatible with normal life span, in the absence of prompt suspicion and intensive management it can prove fatal not only in the neonatal period but also during adult life. Here, we describe a case with a novel homozygous UGT1A1 p.Pro176Leu mutation.
2型克里格勒-纳贾尔综合征是持续性非结合胆红素血症的罕见病因，呈常染色体隐性遗传。尽管它与正常寿命相符，但如果没有及时怀疑和积极治疗，不仅在新生儿期，而且在成年期都可能是致命的。在此，我们描述了一例携带新型纯合UGT1A1 p.Pro176Leu突变的病例。
