Genetic analysis and literature review of Crigler-Najjar syndrome type Ⅰ 

  • TAN Yanfang ,
  • OUYANG Wenxian ,
  • JIANG Tao ,
  • LI Shuangjie
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  • Department of Hepatopathy Center, Hunan Children’s Hospital, Changsha 410007, Hunan, China

Received date: 2015-10-15

  Online published: 2015-10-15

Abstract

Objective To analyze the Uridine diphosphoglucuronyl transferase 1 A1 gene (UGT1A1) mutation in non-hemolytic indirect hyperbilirubinemia. Methods A female patient was diagnosed with type I Crigler-Najjar syndrome (CNS-I) after excluding hemolysis and hypothyroidism. Phototherapy treatment is effective while oral phenobarbital was not. UGT1A1 were amplified by polymerase chain reaction and DNA was sequenced. Results The patient was compound heterozygote of c.1070A>G p. (Gln357Arg) and 1091C>T p. (pro364Leu) and diagnosed with CNS-I. Heterozygotes of the mutation were found in her parents. Conclusions In patients highly suspected of CNS, the genetic tests should be carried out as soon as possible.

Cite this article

TAN Yanfang , OUYANG Wenxian , JIANG Tao , LI Shuangjie . Genetic analysis and literature review of Crigler-Najjar syndrome type Ⅰ [J]. Journal of Clinical Pediatrics, 2015 , 33(10) : 893 . DOI: 10.3969 j.issn.1000-3606.2015.10.013

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