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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2016
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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. |
format | Online Article Text |
id | pubmed-4870939 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
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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