Umair Ahmed Siddiqui, Abdul Halim.
Renal failure in the young boy with Alport’s syndrome.
Pak Armed Forces Med J Jan ;58(4):463-6.

Cecil Alport, in 1927, described a hereditary glomerulopathy. The original family [1] that he described had dominantly inherited kidney disease that was characterized in both sexes by hematuria and urinary erythrocyte casts, variable proteinuria, and by hearing loss and renal failure in males. Affected males died in adolescence of uremia or end-stage renal disease. Since then other individuals (phenotypes) have been recognized with ocular defects and well preserved hearing, though hearing loss is the most common extra-renal manifestation [2]. Other phenotypes including leiomyomatosis and facial malformation with mental retardation and elliptocytosis have been recognized. Still other forms are associated with megathrombocytopenia and granulocyte defects.

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