Autosomal recessive polycystic kidney disease in a girl
10.7499/j.issn.1008-8830.2401066
- VernacularTitle:常染色体隐性遗传性多囊肾1例
- Author:
Xin-Yu XU
1
,
2
;
Qing-Mei ZHOU
;
Yun-Fen TIAN
;
Qiong ZHAO
;
Han PAN
;
Qian-Ting CHEN
;
Yu-Mei LUO
;
Zheng-Zheng GUO
;
Tian-He LI
;
Jing-Hui YANG
Author Information
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
- Keywords:
Autosomal recessive polycystic kidney disease;
PKHD1 gene;
Genetic testing;
Child
- From:
Chinese Journal of Contemporary Pediatrics
2024;26(9):954-960
- CountryChina
- Language:Chinese
-
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.
