Mother–Son Kidney Transplantation in Patients With X-Linked Alport Syndrome

Kidney International Reports(2021)

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摘要
Alport syndrome (AS) is a hereditary disease that is characterized by progressive kidney disease, sensorineural hearing loss, and ocular lesions.1 The responsible genes for AS are COL4A3, COL4A4, and COL4A5. In approximately 60% to 70% of cases, AS is caused by mutations in COL4A5, referred to as X-linked AS (XLAS); in contrast, autosomal dominant AS and autosomal recessive AS, which are caused by mutations in COL4A3 or COL4A4, account for 20% to 30% and 10% of cases, respectively.2,3
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