Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation

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 perio...

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Detalles Bibliográficos
Autores principales: Nair, Karippoth Mohandas, Lohse, Peter, Nampoothiri, Sheela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491300/
https://www.ncbi.nlm.nih.gov/pubmed/23162302
http://dx.doi.org/10.4103/0971-6866.100776
Descripción
Sumario: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.

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