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Article

[Autosomal recessive polycystic kidney disease in a girl].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Jan 2000

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

Abstract excerpt

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...

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Identifiers

PMID: 39267511
DOI: 10.7499/j.issn.1008-8830.2401066
PMCID: PMC11404465

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