title: 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.affiliation: Department of Internal Medicine, Koseiren Sanjo General Hospital, Sanjo, Japan.
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Iwafuchi
authors.affiliation: Department of Internal Medicine, Kidney Center, Shinrakuen Hospital, Kobe, Japan.
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Morioka
authors.affiliation: Department of Pathology, Shinrakuen Hospital, Kobe, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Morita
authors.affiliation: Department of Pediatrics, Yoshida Hospital, Tsubame, Japan.
authors.forename: Toshio
authors.initials: T
authors.lastname: Yanagihara
authors.affiliation: Department of Internal Medicine, Koseiren Sanjo General Hospital, Sanjo, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Oyama
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Naoya
authors.initials: N
authors.lastname: Morisada
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Kazumoto
authors.initials: K
authors.lastname: Iijima
authors.affiliation: Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: Ichiei
authors.initials: I
authors.lastname: Narita
keywords: Autophagic dysfunction; Congenital anomalies of the kidney and urinary tract; Focal segmental glomerulosclerosis; Funduscopic examination; Paired box protein 2 mutation; Renal coloboma syndrome