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?
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.
ARPKD
ADPKD
Denys' Drash syndrome
Alpo's syndrome