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What is A 4 yr. old boy was brought by his mother to the OPD regarding complaints of cola coloured urine for 8 days. The mother has noticed repeated attacks earlier too. Associated history reveals SNHL and slit lamp examination reveals All of the statements regarding the disease are true EXCEPT? and explain in detail?
Presence of haematuria with SNHL with anterior lenticonus as shown in the slit lamp suggests the diagnosis of Alpo's syndrome. Alpo's syndrome is and X linked disorder characterized by defect in alpha 5 chain of type IV collagen. Electron microscopy reveals thinning of basement membrane (<150nm) as the earliest feature and 'basket weave appearance' is characteristic on EM.