Cystinuria - Sanjay Manohar's Medical Browser
Cystinuria
external
Causes
SLC3A1 gene mutation
SLC7A9 gene mutation
Effects
Cystine stone
Parents
Renal metabolic disorder
Disease due to genetic mutation
Treatments
Penicillamine
Captopril
Potassium citrate
Description
"Rx penicillamine or captopril. Mutations in the SLC3A1 and SLC7A9 genes. These genes encode a transporter protein made primarily in the kidneys. Prevents renal reabsorption of cysteine."
Type item name:
Sanjay Manohar
2006