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Medicine

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Kidney

Question
12 out of 14
 

All are true about cystinosis except? (AIPG 10)



A Autosomal recessive

B Accumulation of cystine in lysosome

C Visual impairment

D Recur after transplant

Ans. D Recur after transplant

Cystinosis

i. There is accumulation of cystine in Lysosomes due to an autosomal recessive defect.

ii. Cystine deposits cause Fanconi syndrome, visual impairment and hypothyroidism, with progression to

ESRF <10 yrs.

iii. Renal cystinosis does not recur after transplant; extra-renal disease progresses.

Kidney Flashcard List

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