Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2.

Abstract

A common renal phenotype of paired box protein 2 (PAX2) mutations is renal coloboma syndrome. We report a single family with diverse renal phenotypes associated with PAX2 mutation. The proband presented steroid-resistant focal segmental glomerulosclerosis with optic coloboma, whereas his two sons showed severe renal hypoplasia with end-stage renal disease, with or without optic coloboma. In all three cases, a heterozygous PAX2 genetic mutation was identified (exon 2; NM_003987.3:c.76dupG, p.Val26Glyfs*28). Based on histopathological findings of the proband, we hypothesized that autophagic dysfunction was associated with the pathophysiology of the focal segmental glomerulosclerosis with PAX2 mutation. Detailed funduscopic examination - including the optic disc - might be useful for the diagnosis of renal anomalies associated with PAX2 mutation.

• Authors: Yoichi Iwafuchi, Tetsuo Morioka, Takashi Morita, Toshio Yanagihara, Yuko Oyama, Naoya Morisada, Kazumoto Iijima, Ichiei Narita
• Journal: Case reports in nephrology and dialysis (Case Rep Nephrol Dial) 2016 Jan-Apr Vol. 6 Issue 1 Pg. 61-9 ISSN: 2296-9705 [Print] Switzerland
• PMID: 27226968 (Publication Type: Case Reports)