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A review of clinical characteristics and genetic backgrounds in Alport syndrome
Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular abnormalities. It is divided into three modes of inheritance, namely, X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS i...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Singapore
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6510800/ https://www.ncbi.nlm.nih.gov/pubmed/30128941 http://dx.doi.org/10.1007/s10157-018-1629-4 |
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author | Nozu, Kandai Nakanishi, Koichi Abe, Yoshifusa Udagawa, Tomohiro Okada, Shinichi Okamoto, Takayuki Kaito, Hiroshi Kanemoto, Katsuyoshi Kobayashi, Anna Tanaka, Eriko Tanaka, Kazuki Hama, Taketsugu Fujimaru, Rika Miwa, Saori Yamamura, Tomohiko Yamamura, Natsusmi Horinouchi, Tomoko Minamikawa, Shogo Nagata, Michio Iijima, Kazumoto |
author_facet | Nozu, Kandai Nakanishi, Koichi Abe, Yoshifusa Udagawa, Tomohiro Okada, Shinichi Okamoto, Takayuki Kaito, Hiroshi Kanemoto, Katsuyoshi Kobayashi, Anna Tanaka, Eriko Tanaka, Kazuki Hama, Taketsugu Fujimaru, Rika Miwa, Saori Yamamura, Tomohiko Yamamura, Natsusmi Horinouchi, Tomoko Minamikawa, Shogo Nagata, Michio Iijima, Kazumoto |
author_sort | Nozu, Kandai |
collection | PubMed |
description | Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular abnormalities. It is divided into three modes of inheritance, namely, X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS is caused by pathogenic variants in COL4A5, while ADAS and ARAS are caused by those in COL4A3/COL4A4. Diagnosis is conventionally made pathologically, but recent advances in comprehensive genetic analysis have enabled genetic testing to be performed for the diagnosis of AS as first-line diagnosis. Because of these advances, substantial information about the genetics of AS has been obtained and the genetic background of this disease has been revealed, including genotype–phenotype correlations and mechanisms of onset in some male XLAS cases that lead to milder phenotypes of late-onset end-stage renal disease (ESRD). There is currently no radical therapy for AS and treatment is only performed to delay progression to ESRD using nephron-protective drugs. Angiotensin-converting enzyme inhibitors can remarkably delay the development of ESRD. Recently, some new drugs for this disease have entered clinical trials or been developed in laboratories. In this article, we review the diagnostic strategy, genotype–phenotype correlation, mechanisms of onset of milder phenotypes, and treatment of AS, among others. |
format | Online Article Text |
id | pubmed-6510800 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Springer Singapore |
record_format | MEDLINE/PubMed |
spelling | pubmed-65108002019-05-28 A review of clinical characteristics and genetic backgrounds in Alport syndrome Nozu, Kandai Nakanishi, Koichi Abe, Yoshifusa Udagawa, Tomohiro Okada, Shinichi Okamoto, Takayuki Kaito, Hiroshi Kanemoto, Katsuyoshi Kobayashi, Anna Tanaka, Eriko Tanaka, Kazuki Hama, Taketsugu Fujimaru, Rika Miwa, Saori Yamamura, Tomohiko Yamamura, Natsusmi Horinouchi, Tomoko Minamikawa, Shogo Nagata, Michio Iijima, Kazumoto Clin Exp Nephrol Invited Review Article Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular abnormalities. It is divided into three modes of inheritance, namely, X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS is caused by pathogenic variants in COL4A5, while ADAS and ARAS are caused by those in COL4A3/COL4A4. Diagnosis is conventionally made pathologically, but recent advances in comprehensive genetic analysis have enabled genetic testing to be performed for the diagnosis of AS as first-line diagnosis. Because of these advances, substantial information about the genetics of AS has been obtained and the genetic background of this disease has been revealed, including genotype–phenotype correlations and mechanisms of onset in some male XLAS cases that lead to milder phenotypes of late-onset end-stage renal disease (ESRD). There is currently no radical therapy for AS and treatment is only performed to delay progression to ESRD using nephron-protective drugs. Angiotensin-converting enzyme inhibitors can remarkably delay the development of ESRD. Recently, some new drugs for this disease have entered clinical trials or been developed in laboratories. In this article, we review the diagnostic strategy, genotype–phenotype correlation, mechanisms of onset of milder phenotypes, and treatment of AS, among others. Springer Singapore 2018-08-20 2019 /pmc/articles/PMC6510800/ /pubmed/30128941 http://dx.doi.org/10.1007/s10157-018-1629-4 Text en © The Author(s) 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. |
spellingShingle | Invited Review Article Nozu, Kandai Nakanishi, Koichi Abe, Yoshifusa Udagawa, Tomohiro Okada, Shinichi Okamoto, Takayuki Kaito, Hiroshi Kanemoto, Katsuyoshi Kobayashi, Anna Tanaka, Eriko Tanaka, Kazuki Hama, Taketsugu Fujimaru, Rika Miwa, Saori Yamamura, Tomohiko Yamamura, Natsusmi Horinouchi, Tomoko Minamikawa, Shogo Nagata, Michio Iijima, Kazumoto A review of clinical characteristics and genetic backgrounds in Alport syndrome |
title | A review of clinical characteristics and genetic backgrounds in Alport syndrome |
title_full | A review of clinical characteristics and genetic backgrounds in Alport syndrome |
title_fullStr | A review of clinical characteristics and genetic backgrounds in Alport syndrome |
title_full_unstemmed | A review of clinical characteristics and genetic backgrounds in Alport syndrome |
title_short | A review of clinical characteristics and genetic backgrounds in Alport syndrome |
title_sort | review of clinical characteristics and genetic backgrounds in alport syndrome |
topic | Invited Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6510800/ https://www.ncbi.nlm.nih.gov/pubmed/30128941 http://dx.doi.org/10.1007/s10157-018-1629-4 |
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