A 28 years old man has anterior lenticonus and ESRD now. His maternal uncle also died of similar illness. Diagnosis is:
Correct Answer: Alport's syndrome
Description: Ans. d. Alport's syndrome (Ref: Harrison 19/e p2513, 18/e p2351)The given clinical picture is typical of Alport's syndrome, which is characterized by triad of hereditary nephritis (ESRD), sensorineural deafness and ocular abnormalities (anterior lenticonus).Alport's Syndrome (Characterized by triad of)Hereditary NephritisSensorineural DeafnessOcular Abnormalities* Hematuria (earliest feature)Q* Mild ProteinuriaQ* Chronic glomerulosclerosis* Progressive renal insufficiency* Nephrotic syndrome (rare)* MC extra-renal abnormalityQ* AsymmetricQ* Anterior lenticonusQ* Dot and Fleck retinopathy* Recurrent corneal erosionsQ and opacitiesQ* CataractQ* Retinal detachment* Nystagmus* LeiomyomatosisTreatment of Alport's SyndromePrimary treatment is control of systemic hypertension and use of ACE inhibitors to slow renal disease progression
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