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402 Unknown

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?

AIt is caused due to Defect in alpha 3 chain of Type IV collagen
BBilateral anterior lenticonus can be seen in this condition
CElectron microscopy of the kidney specimen reveals thinning of GBM and basket weave appearance.
DThe mode of inheritance is X linked
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404 Unknown

A 56-year-old lady comes to medicine OPD with chief complains of headache, dizziness and generalized itching paicularly after taking hot shower. She also complained of intense burning in hands and feet as shown. She repos that taking aspirin relieves her of this issue. Physical examination: splenomegaly with raised BP. Blood workup shows: HB- 20.1 g/dl Hematocrit-60-% WBC-15800 Platelet count- 500000E PO- low spO2 – 98% LAP- increased. Which of the following is the most common mutation seen in the above disease: –

AJAK2
BCALR
CRAS
DMYC
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