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Pediatrics Genetic and genetic disorders 46d4b401

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
Cystinuria is an autosomal recessive disorder characterized by impaired tubular reabsorption of cystine and dibasic amino acids (ornitine,lysine and arginine) Thus occurs supersaturation of urine with cystine crystals leading to formation of radiopaque calculi . Reference : Ghai TB of pediatrics 8th edition pg 503.

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