常染色体隐性遗传性多囊肾1例  

Autosomal recessive polycystic kidney disease in a girl

作　　者：许欣雨 周青梅 田云粉[1,3] 赵琼 潘菡 陈芊廷 罗玉妹 郭征征 李天鹤 杨景晖 XU Xin-Yu;ZHOU Qing-Mei;TIAN Yun-Fen;ZHAO Qiong;PAN Han;CHEN Qian-Ting;LUO Yu-Mei;GUO Zheng-Zheng;LI Tian-He;YANG Jing-Hui(Department of Pediatrics,First People's Hospital of Yunnan Province,Kunming 650032,China)

机构地区：[1]云南省第一人民医院儿科,云南昆明650032 [2]昆明理工大学医学院,云南昆明650500 [3]昆明理工大学附属医院,云南昆明650032 [4]云南中医药大学第一临床医学院,云南昆明650500

出　　处：《中国当代儿科杂志》2024年第9期954-960,共7页Chinese Journal of Contemporary Pediatrics

基　　金：云南省中青年学术和技术带头人后备人才项目(202105AC160030);云南省“兴滇英才支持计划”名医专项(XDYCMY-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)。

摘　　要：患儿,女,5岁,因黑便1次、呕血1次入院。入院后胃镜提示食管胃底静脉曲张,腹部CT扫描、磁共振成像及彩色超声检查提示肝硬化、肝内胆管扩张、双肾增大,基因检测发现患儿PKHD1基因存在复合杂合突变:c.2264C>T(p.Pro755Leu)、c.1886T>C(p.Val629Ala)。c.2264C>T(p.Pro755Leu)为致病变异,已有该变异的相关报道;c.1886T>C(p.Val629Ala)为新发突变,Mutation Taster和PolyPhen2预测其有致病可能。该患儿确诊为常染色体隐性遗传性多囊肾。对于无明显诱因的消化道出血,同时存在肝脏疾病或肾脏疾病的儿童应注意常染色体隐性遗传性多囊肾的可能,必要时行基因检测明确诊断。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 

分 类 号：R726.9[医药卫生—儿科]