Recent developments in hereditary nephritis (Alport's syndrome).
Hereditary nephritis with deafness, or Alport's syndrome, is a familial disorder characterized by progressive renal insufficiency, sensorineural hearing loss and ocular abnormalities. The Alport's nephropathy appears to result from a primary biochemical defect of the glomerular basement membrane, specifically an alteration of type IV collagen. The cardinal clinical manifestation of Alport's is chronic hematuria. End-stage renal disease develops in most affected males, while affected females generally experience a benign renal course. The diagnosis depends on characteristic electron microscopy findings of a variably thickened and thinned glomerular basement membrane with lamellation and basket weaving. Alport's is a genetically heterogeneous disorder with several modes of inheritance. A review of the literature with discussion of the clinical and basic science aspects of hereditary nephritis is presented.
Bubalo
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University of Oregon Medical Center.
Davidson
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D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006312:Hearing Loss, Bilateral / Q000209:etiology; D006319:Hearing Loss, Sensorineural / Q000209:etiology; D006417:Hematuria / Q000209:etiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007676:Kidney Failure, Chronic / Q000209:etiology; D008297:Male; D009394:Nephritis, Hereditary / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D011379:Prognosis; D012164:Retinal Diseases / Q000209:etiology; D012737:Sex Factors