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What is 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 by slit-lamp reveals keratoconus. What is the most probable diagnosis? and explain in detail?
Classical features of Alpo'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 Alpo's syndrome have an X-linked inheritance of mutations in the 5(IV) collagen chain on chromosome Xq22-24. Early onset of severe deafness, lenticonus, or proteinuria suggests a poorer prognosis. Ref: Lewis J.B., Neilson E.G. (2012). Chapter 283. Glomerular Diseases. In D.L. Longo, A.S. Fauci, D.L. Kasper, S.L. Hauser, J.L. Jameson, J. Loscalzo (Eds),Harrison's Principles of Internal Medicine, 18e.