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Genetic diagnosis of progressive familial intrahepatic cholestasis type 2 / 临床儿科杂志
Journal of Clinical Pediatrics ; (12): 905-909, 2013.
Artigo em Chinês | WPRIM | ID: wpr-441247
ABSTRACT
Objectives To investigate the clinical features of progressive familial intrahepatic cholestasis type 2 (PFIC2) and to illustrate the importance of genetic diagnosis. Methods The mutations in 27 exons of ABCB11 encoding bile salt export pump (BSEP) were identiifed using polymerase chain reaction (PCR) and direct DNA sequencing in 6 children with suspected PFIC2. The pathogenicity of the newly identiifed mutations were predicted by SIFT, PolyPhen-2, SNPs&GO software. The clini-cal features and laboratory examinations were reviewed. Results Four disease-causing mutations, p.R928*, p.E554K, p.R575Q and p.Y337H were identiifed, and the last three mutations were novel. These three kinds of novel mutations can cause the disease. Two children with genetic diagnosis had such manifestations as onset within a month after birth, jaundice, hepatosplenomegaly, upset, increased levels of total bilirubin and direct bilirubin, GGT<100 U/L and high levels of total bile acid. Conclusions Genetic diagnosis is a potent tool for clinical diagnosis of PFIC2.

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Tipo de estudo: Estudo diagnóstico Idioma: Chinês Revista: Journal of Clinical Pediatrics Ano de publicação: 2013 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Tipo de estudo: Estudo diagnóstico Idioma: Chinês Revista: Journal of Clinical Pediatrics Ano de publicação: 2013 Tipo de documento: Artigo