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

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 glomeru...

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Detaylı Bibliyografya
Yayımlandı:BMC Nephrol
Asıl Yazarlar: Zhang, Li, Zhai, Shu-bo, Zhao, Leng-yue, Zhang, Yan, Sun, Bai-chao, Ma, Qing-shan
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2018
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6151052/
https://ncbi.nlm.nih.gov/pubmed/30241513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-018-1044-9
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