Recent developments in hereditary nephritis (Alport's syndrome)

Abstract

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.