Diagnosis and treatment of a 16-year-old Chinese patient with concurrent hereditary hemochromatosis and Gilberts syndromeReportar como inadecuado




Diagnosis and treatment of a 16-year-old Chinese patient with concurrent hereditary hemochromatosis and Gilberts syndrome - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

European Journal of Medical Research

, 19:51

First Online: 28 September 2014Received: 21 April 2014Accepted: 12 September 2014

Abstract

Gilbert’s syndrome and hereditary hemochromatosis predominantly affect Caucasians with a low incidence in Asians. Here we report the case of a 16-year-old Chinese boy, who was admitted with hepatalgia, jaundice, hyperpigmentation, and splenomegaly to our hospital. After excluding chronic hepatitis, autoimmune disorders, and alcohol or drug injury, genetic analyses of the patient and his parents revealed simultaneous manifestations of Gilbert’s syndrome and hereditary hemochromatosis, though his parents did not develop related symptoms. The presented case indicates that diagnoses of Gilbert’s syndrome and hereditary hemochromatosis should be taken into consideration when chronic hepatitis is suspected without a clear etiology.

KeywordsHereditary hemochromatosis Gilbert’s syndrome Liver biopsy Mutation AbbreviationsDBILDirect bilirubin

GSGilbert’s syndrome

HHCHereditary hemochromatosis

IBILIndirect bilirubin

SNPsSingle nucleotide polymorphisms

TBILTotal bilirubin

UGT1A1UDP-glucuronosyltransferase 1A1

Electronic supplementary materialThe online version of this article doi:10.1186-s40001-014-0051-y contains supplementary material, which is available to authorized users.

Download fulltext PDF



Autor: Xianbo Wang - Yanmin Liu - Yujuan Chang - Huimin Liu - Peng Wang

Fuente: https://link.springer.com/







Documentos relacionados