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Pediatrics Metabolism of Amino Acids e1efcf77

Features of cystinuria are -

A
Impaired proximal tubular reabsorption of cystin
B
Autosomal recessive
C
Recurrent renal stone
D
All of above
High-Yield Explanation
Ans. is 'd' i.e., All of above Cystineuriao Metabolic disorder of autosomal recessive inheritance.o Defect in transport of cystine and some other aminoacid across renal tubular ceil & interstitial cell,o Selective increase renal clearance of cystine and other basic aminoacid in urine.o High urinary cystine leads to radio - opaque hexagonal crystal,o Crystal is soluble in alkali.o Treatment - formation of stone can be reduced by alkalization of urine.

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