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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?

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Correct Answer:
It is caused due to Defect in alpha 3 chain of Type IV collagen
Description:
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.
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