Alport Syndrome

Chapter: Alport Syndrome
McMaster Section Editor(s): Christine M. Ribic, Karen C.Y. To
Section Editor(s) in Interna Szczeklika: Franciszek Kokot, Robert Drabczyk
McMaster Author(s): Matthew Miller
Author(s) in Interna Szczeklika: Marian Klinger, Robert Drabczyk
Additional Information

Definition, EtiologyTop

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 ~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.

Clinical FeaturesTop

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.

TreatmentTop

There is no specific therapy for AS.

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