Alport syndrome. Definition

Medical Definition: Alport syndrome

Hereditary kidney disease with microscopic or gross hematuria, beginning the first days of life, and the subsequent development of proteinuria, which can become nephrotic range. Is associated with hearing impairment (deafness) and ocular (lens or retina). In the classical form with dominant inheritance X-linked (85-90% of cases), evolves, in men, to end stage renal disease (a juvenile and adult form). In women it is more rare progression to renal failure. Have been recently described an autosomal recessive and autosomal dominant, with or without macrothrombocytopenia. The primary defect in the classical form, affects the alpha-5 chain of type IV collagen alpha-5.

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