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
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B. |
Autosomal Dominant Polycystic Kidney Disease
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C. |
Denys’ Drash syndrome.
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D. |
Alport’s syndrome.
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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.
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