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Open Access 01-02-2019 | Invited review article

A review of clinical characteristics and genetic backgrounds in Alport syndrome

Authors: Kandai Nozu, Koichi Nakanishi, Yoshifusa Abe, Tomohiro Udagawa, Shinichi Okada, Takayuki Okamoto, Hiroshi Kaito, Katsuyoshi Kanemoto, Anna Kobayashi, Eriko Tanaka, Kazuki Tanaka, Taketsugu Hama, Rika Fujimaru, Saori Miwa, Tomohiko Yamamura, Natsusmi Yamamura, Tomoko Horinouchi, Shogo Minamikawa, Michio Nagata, Kazumoto Iijima

Published in: Clinical and Experimental Nephrology | Issue 2/2019

Abstract

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.

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Title: A review of clinical characteristics and genetic backgrounds in Alport syndrome
Authors: Kandai Nozu
Koichi Nakanishi
Yoshifusa Abe
Tomohiro Udagawa
Shinichi Okada
Takayuki Okamoto
Hiroshi Kaito
Katsuyoshi Kanemoto
Anna Kobayashi
Eriko Tanaka
Kazuki Tanaka
Taketsugu Hama
Rika Fujimaru
Saori Miwa
Tomohiko Yamamura
Natsusmi Yamamura
Tomoko Horinouchi
Shogo Minamikawa
Michio Nagata
Kazumoto Iijima
Publication date: 01-02-2019
Publisher: Springer Singapore
Published in: Clinical and Experimental Nephrology / Issue 2/2019
Print ISSN: 1342-1751
Electronic ISSN: 1437-7799
DOI: https://doi.org/10.1007/s10157-018-1629-4

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