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

Cardiorenal Medicine

Tetsuo Morioka¹  Takashi Morita¹  Yuko Oyama¹  Kazumoto Iijima¹  Ichiei Narita¹  Naoya Morisada¹  Toshio Yanagihara¹  Yoichi Iwafuchi¹ 

[1] $$

关键词: Paired box protein 2 mutation;    Renal coloboma syndrome;    Focal segmental glomerulosclerosis;    Congenital anomalies of the kidney and urinary tract;    Autophagic dysfunction;    Funduscopic examination;   

DOI  :  10.1159/000445679

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown