Errors of Inborn metabolism (cystinuria) Flashcards Preview

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Flashcards in Errors of Inborn metabolism (cystinuria) Deck (3)
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What kind of inheritance pattern is Cysteinuria and what is the defect in this disease?

It is autosomal recessive, and in this disease the renal tubule's amino acid transporter for cysteine, ornithine, lysine, and arginine in the Proximal Convoluted Tubules are missing or malfunctioning.


What is the feared complication of cysteineuria?

The cystines can accumulate in the urine and can precipitate, forming the cysteine kidney stones leading to the staghorn cysteine calculi.


How do we treat cysteinuria?

Tx with acetazolamide to alkalinize the urine and un-precipitate the cysteine.