Recurrent hematuria and progressive nerve deafness in a pt with foam cells in the glomeruli and tubules along with thinning, splitting, and fragmentation of the basement membrane. Abnormality most likely to be present in this child is? (AIIMS Nov 2014)
|A||A hereditary defect in the renal transport of neutral amino acids|
|B||A lack of the globular domain of type IV collagen|
|C||A mutation involving the cytoplasmic btk gene|
|D||Infection with verocytotoxin-producing|
a. Alport’s syndrome is characterized by glomerular injury (resulting in recurrent hematuria), progressive hearing impairment (especially to high frequencies), and ocular abnormalities (such as cataracts and dislocated lens) corneal dystrophy.
b. Alport’s syndrome has an X-linked dominant inheritance pattern.
c. Microscopic sections reveal thinning, splitting, and fragmentation of basement membrane and foam cells in glomeruli and tubules.
d. This disease results from defective GBM synthesis, which may cause an absence of the globular region of the alpha 3 chain of type IV collagen (COL4A5).