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

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 sh...

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Autores principales: Iwafuchi, Yoichi, Morioka, Tetsuo, Morita, Takashi, Yanagihara, Toshio, Oyama, Yuko, Morisada, Naoya, Iijima, Kazumoto, Narita, Ichiei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4870939/
https://www.ncbi.nlm.nih.gov/pubmed/27226968
http://dx.doi.org/10.1159/000445679
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author Iwafuchi, Yoichi
Morioka, Tetsuo
Morita, Takashi
Yanagihara, Toshio
Oyama, Yuko
Morisada, Naoya
Iijima, Kazumoto
Narita, Ichiei
author_facet Iwafuchi, Yoichi
Morioka, Tetsuo
Morita, Takashi
Yanagihara, Toshio
Oyama, Yuko
Morisada, Naoya
Iijima, Kazumoto
Narita, Ichiei
author_sort Iwafuchi, Yoichi
collection PubMed
description 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.
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spelling pubmed-48709392016-05-25 Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2 Iwafuchi, Yoichi Morioka, Tetsuo Morita, Takashi Yanagihara, Toshio Oyama, Yuko Morisada, Naoya Iijima, Kazumoto Narita, Ichiei Case Rep Nephrol Dial Published online: April, 2016 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. S. Karger AG 2016-04-14 /pmc/articles/PMC4870939/ /pubmed/27226968 http://dx.doi.org/10.1159/000445679 Text en Copyright © 2016 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Published online: April, 2016
Iwafuchi, Yoichi
Morioka, Tetsuo
Morita, Takashi
Yanagihara, Toshio
Oyama, Yuko
Morisada, Naoya
Iijima, Kazumoto
Narita, Ichiei
Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2
title Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2
title_full Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2
title_fullStr Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2
title_full_unstemmed Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2
title_short Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2
title_sort diverse renal phenotypes observed in a single family with a genetic mutation in paired box protein 2
topic Published online: April, 2016
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4870939/
https://www.ncbi.nlm.nih.gov/pubmed/27226968
http://dx.doi.org/10.1159/000445679
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