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BMC Nephrology
Published in: BMC Nephrology 1/2018

Open Access 01-12-2018 | Case report

New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature

Authors: Li Zhang, Shu-bo Zhai, Leng-yue Zhao, Yan Zhang, Bai-chao Sun, Qing-shan Ma

Published in: BMC Nephrology | Issue 1/2018

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Abstract

Background

We herein report a 3-year-old boy presented with chronic kidney disease (CKD) due to PAX2 missense mutation (C to G transversion at position 418 in exon 4).

Case presentation

He attended our clinic with a 3-month history of foamy urine. Upon examination, he had reduced estimated glomerular filtration rate (GFR) and renal atrophy. Genetic investigations revealed that he has inherited a mutated PAX2 gene from his father, who had renal failure at the age of 20. We searched the literature and confirmed that this mutation site has not been reported by any other group before.

Conclusions

Although renal coloboma syndrome (RCS) with simultaneous kidney and eye involvement is the most common phenotype of PAX2 mutations, current literature supports that such mutations may have profuse clinical manifestations and renal hypoplasia is one distinct entity in the spectrum.
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Metadata
Title
New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature
Authors
Li Zhang
Shu-bo Zhai
Leng-yue Zhao
Yan Zhang
Bai-chao Sun
Qing-shan Ma
Publication date
01-12-2018
Publisher
BioMed Central
Published in
BMC Nephrology / Issue 1/2018
Electronic ISSN: 1471-2369
DOI
https://doi.org/10.1186/s12882-018-1044-9

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