A. Autosomal Recessive Polycystic Kidney Disease
B. Autosomal Dominant Polycystic Kidney Disease
C. Denys’ Drash syndrome.
D. Alport’s syndrome.
Ans:D. Alport’s Syndrome.
Association of Renal failure with Lenticonus / Keratoconus with a positive family history suggests a diagnosis of Alport’s syndrome.
Classical features of Alport’s syndrome:
- Thinning and splitting of the GBMs
- Mild proteinuria
- Chronic glomerulosclerosis leading to renal failure
- Sensorineural deafness
- Lenticonus of the anterior lens capsule
- “Dot and fleck” retinopathy
- Approximately 85% of patients with Alport’s syndrome have an X-linked inheritance of mutations in the collagen chain on chromosome Xq22–24.
- Early onset of severe deafness, lenticonus, or proteinuria suggests a poorer prognosis.