Alport syndrome overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Alport’s syndrome (hereditary nephritis) is a familial nephropathy characterized by renal impairment, auditory manifestations, and may also have ocular defects. It has an X-linked form characterized by the mutation of COL4A5 gene on the long arm of X-chromosome, and another much less common autosomal recessive form characterized by the homogeneous mutation of COL4A3 or COL4A4 on chromosome 2. The mutation leads to abnormal alpha chain of type IV collagen, which is normally responsible for the structure and function of basement membranes in the body. Alport’s syndrome most commonly presents in childhood with persistent hematuria; a presentation that should always consider a range of more common differential diagnoses before the diagnosis of Alport’s syndrome is made. Prognosis of Alport’s syndrome is generally poor with inevitable progression to end-stage renal disease (ESRD) at varying rates. Management is by multidisciplinary approach, involving established and promising pharmacologic therapy along with renal replacement methods.