Alport syndrome – all are true except?
Correct Answer: Cardiac hypertrophy
Description: Ans. is 'b' i.e., Cardiac hypertrophy o There is no cardiac involvement in alport syndrome.Alport syndromeo Alport syndrome is a type hereditary nephritis characterized by glomerulonephritis, sensorineural hearing loss and eye defects. It is due to defect in a-5 chain of collagen IV (COL4 A5).o The most common inheritence is X-linked(NEET) which causes defect in a-5 chain of collagen IV. Very rare autosomal forms (dominant and recessive) also exist, which affect a-3 or oc-4 chains of collagen 4 (COL4 A3 or COL4A4).o Light microscopy shows foam cell in the interstitium. 'Electron microscopy' is diagnostic of the disease. It shows diffuse thinning of basement membrane early in the disease which thickens over time. In fully developed disease there are irregular foci of thickening alternating with attenuation (thinning) of GBM with pronounced splitting and lamination of lamina densa, giving typical "basket-weave appearance".o The disease usually affects males (as other X-linked disorders) in the age group of 5-20 years. There is gross or microscopic hematuria, nerve deafness and eye lesions (lenticonus, lens dislocation, posterior cataract, corneal dystrophy).
Category:
Pathology
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