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

发布时间：2019-03-20 19:35

【摘要】：进行性家族性肝内胆汁淤积症1型(PFIC1)是一种ATP8B1基因突变导致的以进行性胆汁淤积为主要临床表现的常染色体隐性遗传病。该文报道1例经ATP8B1突变分析证实的PFIC1患儿临床和遗传学特征。患儿为1岁2个月的男孩,因发现皮肤黄染10月余就诊。发病后先后在多家医院诊治,病因不详,疗效不佳。体查发现皮肤巩膜黄染,肝右肋下4 cm,剑突下2 cm,脾左肋下2 cm可触及。肝功能检查发现血清胆汁酸、胆红素、转氨酶等均升高,而γ-谷氨酰转肽酶水平未见异常。诊断为遗传性胆汁淤积症,但病因不明。1岁8个月时经胆囊结肠Roux-en-Y吻合术,之后患儿黄疸迅速消退。5岁1个月时经全基因组测序及Sanger测序验证,发现患儿为ATP8B1基因突变c.2081TA(p.I694N)的纯合子,最终确诊为PFIC1。电话随访至6岁,黄疸未再反复,但远期预后有待观察。
[Abstract]:Progressive familial intrahepatic cholestasis type 1 (PFIC1) is an autosomal recessive genetic disease caused by ATP8B1 gene mutation, in which progressive cholestasis is the main clinical manifestation. This paper reports the clinical and genetic characteristics of a patient with PFIC1 confirmed by ATP8B1 mutation analysis. The patient was a 1-year-old 2-month-old boy who had been hospitalized for more than 10 months because of the yellow staining of the skin. After the onset of the disease in a number of hospitals have been diagnosed and treated, the etiology is not known, the effect is not good. Skin and sclera yellow staining was found in vivo, 4 cm, under the right rib of liver, 2 cm, below the sagittal process of the liver, 2 cm, under the spleen, 2 cm under the left rib of the spleen. Liver function test showed that serum bile acid, bilirubin, transaminase and so on increased, but 纬-glutamyl transpeptidase level was not abnormal. The disease was diagnosed as hereditary cholestasis, but the etiology was unknown. Roux-en-Y anastomosis of gallbladder and colon was performed at 1 year and 8 months, and then jaundice rapidly subsided. 5 years and 1 month later, it was confirmed by whole genome sequencing and Sanger sequencing. It was found that the patient was a homozygote of ATP8B1 gene mutation c.2081TA (p.I694N) and was finally diagnosed as PFIC1.. Phone follow-up to 6 years old, jaundice is not repeated, but the long-term prognosis remains to be observed.
【作者单位】：暨南大学附属第一医院儿科;
【基金】：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)
【分类号】：R725.7

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