中国当代儿科杂志2024，Vol.26Issue(9)：954-960,7.DOI:10.7499/j.issn.1008-8830.2401066
常染色体隐性遗传性多囊肾1例
Autosomal recessive polycystic kidney disease in a girl
摘要
Abstract
A 5-year-old girl was admitted due to one episode of melena and one episode of hematemesis.Upon admission,gastroscopy revealed esophageal and gastric varices.Abdominal CT scan,MRI,and color Doppler ultrasound suggested cirrhosis,intrahepatic bile duct dilation,and bilateral kidney enlargement.Genetic testing identified compound heterozygous mutations in the PKHD1 gene:c.2264C>T(p.Pro755Leu)and c.1886T>C(p.Val629Ala).The c.2264C>T(p.Pro755Leu)mutation is a known pathogenic variant with previous reports,while c.1886T>C(p.Val629Ala)is a novel mutation predicted to have pathogenic potential according to Mutation Taster and PolyPhen2.The child was diagnosed with autosomal recessive polycystic kidney disease.In children presenting with gastrointestinal bleeding without obvious causes,particularly those with liver or kidney disease,consideration should be given to the possibility of autosomal recessive polycystic kidney disease,and genetic testing should be conducted for definitive diagnosis when necessary.关键词
常染色体隐性遗传性多囊肾/PKHD1基因/基因检测/儿童Key words
Autosomal recessive polycystic kidney disease/PKHD1 gene/Genetic testing/Child引用本文复制引用
许欣雨,杨景晖,周青梅,田云粉,赵琼,潘菡,陈芊廷,罗玉妹,郭征征,李天鹤..常染色体隐性遗传性多囊肾1例[J].中国当代儿科杂志,2024,26(9):954-960,7.基金项目
云南省中青年学术和技术带头人后备人才项目(202105AC160030) （202105AC160030）
云南省"兴滇英才支持计划"名医专项(XDYC-MY-2022-0005) （XDYC-MY-2022-0005）
云南省科技厅——昆明医科大学应用基础研究联合专项(202201AY070001-232). （202201AY070001-232）
