A 28 year old man has lenticonus and end stage renal disease now. His maternal uncle also died of the same illness. What is the most likely diagnosis?

Presentation of male patient with lenticonus and end stage renal disease with a family history of renal disease is highly suggestive of Alport syndrome. AR polycystic kidney is ruled out because the age of presentation in ARPKD is childhood and most of the affected children do not survive beyond their childhood. AD polycystic kidney is ruled out because there is no association of ADPKD with lenticonus as is mentioned in our question. –– Alport syndrome is manifest by hematuria with progression to chronic renal failure, accompanied by nerve deafness and various eye disorders, including lens dislocation, posterior cataracts, and corneal dystrophy. –– In about 85% cases, it is inherited as an X-linked trait. So, males express the full syndrome, and females are carriers in whom manifestations of disease are typically limited to hematuria. –– Autosomal recessive and autosomal dominant forms also exist in which both the sexes are equally susceptible. –– In Alport syndrome, Hematuria is the earliest manifestation and the sensorineural deafness is the commonest extra renal abnormality.