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?
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.
It is caused due to Defect in alpha 3 chain of Type IV collagen
Bilateral anterior lenticonus can be seen in this condition
Electron microscopy of the kidney specimen reveals thinning of GBM and basket weave appearance.
The mode of inheritance is X linked
Integrated QBank