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Pathology definition - Alport Syndrome

Alport syndrome
Alport syndrome may present with hematuria and red cell cast, corneal dystrophy, dislocation of the lens cataracts, nerve deafness and nephritis. Alport syndrome may be caused by mutation of the alpha 5 chain of type IV collagen. Alport syndrome X linked dominant disorder. There will be longitudinal splitting of the lamina densa , attenuation in the glomerular basement membrane and irregular foci of thickening. The main treatment of Alport syndrome may include renal transplantation and ACE inhibitors.
References
1.Pirson, Yves. "Making the diagnosis of Alport's syndrome." Kidney international 56.2 (1999): 760-775.
2.Gregory, M. C., et al. "Alport syndrome--clinical phenotypes, incidence, and pathology." Contributions to nephrology 117 (1996): 1.
Alport syndrome may present with hematuria and red cell cast, corneal dystrophy, dislocation of the lens cataracts, nerve deafness and nephritis. Alport syndrome may be caused by mutation of the alpha 5 chain of type IV collagen. Alport syndrome X linked dominant disorder. There will be longitudinal splitting of the lamina densa , attenuation in the glomerular basement membrane and irregular foci of thickening. The main treatment of Alport syndrome may include renal transplantation and ACE inhibitors.
References
1.Pirson, Yves. "Making the diagnosis of Alport's syndrome." Kidney international 56.2 (1999): 760-775.
2.Gregory, M. C., et al. "Alport syndrome--clinical phenotypes, incidence, and pathology." Contributions to nephrology 117 (1996): 1.