- Defects in type IV collagen synthesis
- most common form X-linked recessive
- Hereditary nephritis,
- deafness +/- ocular disturbances (type IV collagen important in BM of kidney, ears, eyes)
Alport syndrome is due to the mutation in the genes encoding
- Type I collagen
- Type II collagen
- Type III collagen
- Type IV collagen
A 12-year-old boy is a member of a family with a history of renal disease, with males more severely affected than females. He is found to have auditory nerve deafness, corneal dystrophy, and ocular lens dislocation. A urinalysis shows microscopic hematuria. A renal biopsy is performed. Microscopically, the glomeruli show glomerular capillaries with irregular basement membrane thickening and attenuation with splitting of the lamina densa. The mesangial matrix is increased and epithelial cells may appear foamy.
Which of the following is the most likely diagnosis?
- Goodpasture syndrome
- IgA nephropathy
- Alport syndrome
- Dominant polycystic kidney disease
- Diabetes mellitus, type I