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What is A 28-year-old man has lenticonus and ESRD. His maternal uncle also died of similar illness. What is the diagnosis? and explain in detail?
Alpo Syndrome - 1. Classic AS - X-linked disorder- hematuria, sensorineural deafness, and lenticonus 2.A subtype of the X-linked form associated with diffuse leiomyomatosis 3.An autosomal recessive form 4.An autosomal dominant form. Both autosomal recessive and dominant forms can cause renal disease without deafness or lenticonus. Mutations in chains of type IV collagen (COL4A3, COL4A4, COL4A5, and COL4A6).