A Novel Mutation in a Japanese Family with X-linked Alport Syndrome

We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5. Patient 1 was a 2-year-old Japanese girl. She and her mother (patient 2) had a history of proteinuria and hematuria without renal dysfunction, deafness, or ocular abnormalities. Pathologi...

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Autores principales: Abe, Yoshifusa, Iyoda, Masayuki, Nozu, Kandai, Hibino, Satoshi, Hihara, Kei, Yamaguchi, Yutaka, Yamamura, Tomohiko, Minamikawa, Shogo, Iijima, Kazumoto, Shibata, Takanori, Itabashi, Kazuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5088547/
https://www.ncbi.nlm.nih.gov/pubmed/27725546
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author Abe, Yoshifusa
Iyoda, Masayuki
Nozu, Kandai
Hibino, Satoshi
Hihara, Kei
Yamaguchi, Yutaka
Yamamura, Tomohiko
Minamikawa, Shogo
Iijima, Kazumoto
Shibata, Takanori
Itabashi, Kazuo
author_facet Abe, Yoshifusa
Iyoda, Masayuki
Nozu, Kandai
Hibino, Satoshi
Hihara, Kei
Yamaguchi, Yutaka
Yamamura, Tomohiko
Minamikawa, Shogo
Iijima, Kazumoto
Shibata, Takanori
Itabashi, Kazuo
author_sort Abe, Yoshifusa
collection PubMed
description We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5. Patient 1 was a 2-year-old Japanese girl. She and her mother (patient 2) had a history of proteinuria and hematuria without renal dysfunction, deafness, or ocular abnormalities. Pathological findings were consistent with AS, and a genetic analysis revealed that both patients had a heterozygous mutation (c.2767G>C) in exon 32. In summary, the identification of mutations and characteristic pathological findings was useful in making a diagnosis of AS. For a close long-term follow-up, the early detection and treatment of women with X-linked AS are important.
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spelling pubmed-50885472016-11-07 A Novel Mutation in a Japanese Family with X-linked Alport Syndrome Abe, Yoshifusa Iyoda, Masayuki Nozu, Kandai Hibino, Satoshi Hihara, Kei Yamaguchi, Yutaka Yamamura, Tomohiko Minamikawa, Shogo Iijima, Kazumoto Shibata, Takanori Itabashi, Kazuo Intern Med Case Report We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5. Patient 1 was a 2-year-old Japanese girl. She and her mother (patient 2) had a history of proteinuria and hematuria without renal dysfunction, deafness, or ocular abnormalities. Pathological findings were consistent with AS, and a genetic analysis revealed that both patients had a heterozygous mutation (c.2767G>C) in exon 32. In summary, the identification of mutations and characteristic pathological findings was useful in making a diagnosis of AS. For a close long-term follow-up, the early detection and treatment of women with X-linked AS are important. The Japanese Society of Internal Medicine 2016-10-01 /pmc/articles/PMC5088547/ /pubmed/27725546 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Abe, Yoshifusa
Iyoda, Masayuki
Nozu, Kandai
Hibino, Satoshi
Hihara, Kei
Yamaguchi, Yutaka
Yamamura, Tomohiko
Minamikawa, Shogo
Iijima, Kazumoto
Shibata, Takanori
Itabashi, Kazuo
A Novel Mutation in a Japanese Family with X-linked Alport Syndrome
title A Novel Mutation in a Japanese Family with X-linked Alport Syndrome
title_full A Novel Mutation in a Japanese Family with X-linked Alport Syndrome
title_fullStr A Novel Mutation in a Japanese Family with X-linked Alport Syndrome
title_full_unstemmed A Novel Mutation in a Japanese Family with X-linked Alport Syndrome
title_short A Novel Mutation in a Japanese Family with X-linked Alport Syndrome
title_sort novel mutation in a japanese family with x-linked alport syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5088547/
https://www.ncbi.nlm.nih.gov/pubmed/27725546
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