中国当代儿科杂志2016，Vol.18Issue(8)：751-756,6.DOI:10.7499/j.issn.1008-8830.2016.08.016
进行性家族性肝内胆汁淤积症1型1例临床特点和ATP8B1基因突变分析
Clinical feature and ATP8B1 mutation analysis of a patient with progressive familial intrahepatic cholestasis type I
摘要
Abstract
Progressive familial intrahepatic cholestasis type I (PFIC1) is an autosomal recessive disorder caused by biallelic mutations of ATP8B1 gene, with progressive cholestasis as the main clinical manifestation. This paper reports the clinical and genetic features of a PFIC1 patient deifnitely diagnosed by ATP8B1 genetic analysis. The patient, a boy aged 14 months, was referred to the hospital with the complaint of jaundiced skin and sclera over 10 months. The patient had been managed in different hospitals, but the therapeutic effects were unsatisfactory due to undetermined etiology. On physical examination, hepatosplenomegaly was discovered in addition to jaundice of the skin and sclera. The liver was palpable 4 cm below the right subcostal margin and 2 cm below the xiphoid while the spleen 2 cm below the left subcostal margin. The liver function test revealed elevated levels of serum total bile acids, bilirubin, and transaminases;however, the γ-glutamyl transferase level was normal. The diagnosis was genetic cholestasis of undetermined origin. At the age of 1 year and 8 months, a Roux-en-Y cholecystocolonic bypass operation was performed, and thereafter the jaundice disappeared. At 5 years and 1 month, via whole genome sequencing analysis and Sanger sequencing conifrmation, the boy was found to be a homozygote of mutation c.2081T>A(p.I694N) of ATP8B1 gene, and thus PFIC1 was deifnitely diagnosed. The boy was followed up until he was 6 years, and jaundice did not recur, but the long-term outcome remains to be observed.关键词
进行性家族性肝内胆汁淤积症/ATP8B1基因/全基因组测序/胆囊结肠旁路手术/儿童Key words
Progressive familial intrahepatic cholestasis/ATP8B1 gene/Whole genome sequencing/Roux-en-Y cholecystocolonic bypass/Child引用本文复制引用
程映,郭丽,宋元宗..进行性家族性肝内胆汁淤积症1型1例临床特点和ATP8B1基因突变分析[J].中国当代儿科杂志,2016,18(8):751-756,6.基金项目
国家自然科学基金（81270957；81570793）；暨南大学附属第一医院科研培育专项基金（2014208）。 （）
