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.
Highlights
Alport syndrome (AS) is a progressive hereditary renal disease accompanied by sensorineural hearing loss and ocular abnormalities
AS is divided into X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS), according to its mode of inheritance
XLAS is caused by abnormality of COL4A5, while ADAS and ARAS are caused by abnormality in COL4A3 or COL4A4 [3]
Summary
Alport syndrome (AS) is a progressive hereditary renal disease accompanied by sensorineural hearing loss and ocular abnormalities. AS develops because of pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes encoding type IV collagen α3, α4, and α5 chains, respectively [1,2,3]. AS is divided into X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS), according to its mode of inheritance. The distribution of these cases is reported to be as follows: 80% XLAS, 15% ARAS, and 5% ADAS. It is observed in approximately 98% with hematuria and
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