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

• Published in: BMC nephrology 2018-09, Vol.19 (1), p.245-245, Article 245
• Main Authors: Zhang, Li, Zhai, Shu-Bo, Zhao, Leng-Yue, Zhang, Yan, Sun, Bai-Chao, Ma, Qing-Shan
• Format: Article
• Language: English
• Subjects: Age; Atrophy; Case Report; Case reports; Child; Children; Children & youth; Chronic kidney disease; Chronic kidney failure; Congenital diseases; Deoxyribonucleic acid; DNA; Families & family life; Gene mutation; Genotype & phenotype; Glomerular filtration rate; Health aspects; Hypoplasia; Kidney diseases; Kidneys; Laboratories; Literature reviews; Metabolism; Missense mutation; Mutation; Nephrology; PAX2 mutation; Pax2 protein; Phenotypes; Renal failure; Transplants & implants; Transversion; Ultrasonic imaging; Urine
• ISSN: 1471-2369; 1471-2369
• DOI: 10.1186/s12882-018-1044-9

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). 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. 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.