Question
A 25-yr old man comes with features of chronic renal failure. He also gives a h/o an uncle who died of renal failure 10 years ago. Ocular examination reveals the condition as shown in the picture below.
What is the most probable diagnosis?
A. Autosomal Recessive Polycystic Kidney Disease
B. Autosomal Dominant Polycystic Kidney Disease
C. Denys’ Drash syndrome.
D. Alport’s syndrome.
Show Answer
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Correct Answer » D
Explanation
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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:
- Hematuria
- 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
Also know:
- 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.
