Autosomal recessive polycystic kidney disease in a girl

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

doi:10.7499/j.issn.1008-8830.2401066

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Chinese Journal of Contemporary Pediatrics ›› 2024, Vol. 26 ›› Issue (9) : 954-960. DOI: 10.7499/j.issn.1008-8830.2401066

RARE DISEASE RESEARCH

Autosomal recessive polycystic kidney disease in a girl

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

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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.

Key words

Autosomal recessive polycystic kidney disease / PKHD1 gene / Genetic testing / Child

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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. Autosomal recessive polycystic kidney disease in a girl[J]. Chinese Journal of Contemporary Pediatrics. 2024, 26(9): 954-960 https://doi.org/10.7499/j.issn.1008-8830.2401066

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