Errors of Inborn metabolism (cystinuria) Flashcards
1
Q
What kind of inheritance pattern is Cysteinuria and what is the defect in this disease?
A
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.
2
Q
What is the feared complication of cysteineuria?
A
The cystines can accumulate in the urine and can precipitate, forming the cysteine kidney stones leading to the staghorn cysteine calculi.
3
Q
How do we treat cysteinuria?
A
Tx with acetazolamide to alkalinize the urine and un-precipitate the cysteine.
