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MRCP Renal > Cystinuria > Flashcards

Cystinuria Flashcards

1
Q

Inheritance

A

autosomal recessive disorder

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2
Q

Main features of cysteinuria

A

recurrent renal stones

yellow and crystalline, appearing semi-opaque on x-ray

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3
Q

Defect in membrane transport of which compounds?

A

cystine
ornithine
lysine
arginine

(mnemonic = COLA)

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4
Q

Which chromosomes are affected in cysteinuria?

A

chromosome 2: SLC3A1 gene, chromosome 19: SLC7A9

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5
Q

What investigation is used for diagnosis of this condition?

A

cyanide-nitroprusside test

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6
Q

Management of cysteinuria?

A

hydration
D-penicillamine
urinary alkalinization (potassium citrate)

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7
Q
A
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MRCP Renal (56 decks)

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