PDF(Pubmed)
Abstract：
Congenital hepatic fibrosis (CHF) is considered to be a rare autosomal recessive hereditary fibrocystic liver disease, mainly found in children. However, cases of adult CHF with autosomal dominant polycystic kidney disease (ADPKD) caused by PKD1 gene mutation are extremely rare. We report a 31-year-old female patient admitted for esophageal and gastric variceal bleeding. Physical examination revealed significant splenomegaly, biochemical tests showed a slight increase in liver enzymes, and a decrease in platelet count. Imaging examinations showed significant dilatation of the common bile duct and intrahepatic bile ducts, as well as multiple renal cysts. Liver biopsy revealed enlarged portal areas, bridging fibrosis, and numerous variably shaped small bile ducts. Genetic testing identified two unique mutations in the PKD1 gene, identified as biallelic mutations compound heterozygous mutations composed of a mutation inherited from the father (c.8296 T > C) and one from the mother (c.9653G > C). Based on multiple test results, the patient was diagnosed with the portal hypertension type CHF associated with ADPKD. During her initial hospital stay, the patient underwent endoscopic treatment for gastrointestinal bleeding. To date, the patient has recovered well. Moreover, a significant reduction in varices was observed in a gastroscopy examination 18 months later.
摘要：
先天性肝纤维化（CHF）被认为是一种罕见的常染色体隐性遗传性纤维囊性肝病，主要见于儿童。然而,由PKD1基因突变引起的常染色体显性遗传性多囊肾病（ADPKD）成人CHF的病例极为罕见。我们报告了一名31岁的女性患者，因食道和胃底静脉曲张破裂出血入院。体格检查显示明显脾肿大，生化测试显示肝酶略有增加，血小板计数减少.影像学检查显示胆总管和肝内胆管明显扩张,以及多发性肾囊肿。肝活检显示门静脉增大，桥接纤维化，和许多不同形状的小胆管。基因检测在PKD1基因中发现了两个独特的突变,鉴定为双等位基因突变的复合杂合突变，该突变由父亲遗传的突变（c.8296T>C）和母亲遗传的突变（c.9653G>C）组成。基于多个测试结果，患者被诊断为与ADPKD相关的门静脉高压型CHF.在她最初住院期间，患者因消化道出血接受内镜治疗.迄今为止,病人恢复得很好。此外，18个月后的胃镜检查中观察到静脉曲张显著减少.
