Alports Syndrome - symptom, treatment of Alports Syndrome
Alport's syndrome of hereditary nephritis and hearing loss is the best-known hereditary glomerulopathy. Cecil Alport's archetypal kindred 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.
Since Alport's original description, the phenotype of Alport's syndrome has broadened with recognition of other associated clinical features such as ocular defects and relatively well-preserved hearing. Contiguous gene defects including diffuse leiomyomatosis and facial malformation with mental retardation and elliptocytosis have been recognized. There are also forms of hereditary nephritis associated with platelet and sometimes granulocyte defects.
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