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Alport syndrome (AS) is a hereditary nephropathy caused by abnormal synthesis of type IV collagen alpha chains, which leads to damage of the glomerular basement membrane. AS is mostly commonly X-linked (in approximately 80% of patients). A fully symptomatic disease occurs in men, while women are carriers or have a milder form of the disease. Other types of AS have autosomal inheritance, occur in both sexes, and have a course similar to X-linked AS.
Microscopic hematuria and proteinuria are observed. End-stage renal disease (see Chronic Kidney Disease) occurs in almost all men and usually develops by their early- to mid-30s. Most patients have high-frequency sensorineural hearing loss. Various ocular lesions, such as anterior lenticonus, can occur.
There is no specific therapy for AS.