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cystinuria
Pronunciation: sis-tin-YUR-ee-ah
An inherited disorder causing excessive excretion of cystine and other amino acids in urine, leading to recurrent kidney stone formation.
Full Definition
Cystinuria is an autosomal recessive genetic disorder affecting amino acid transport in the kidneys and intestines. The condition results in excessive urinary excretion of cystine, ornithine, lysine, and arginine. In pediatric patients, cystinuria typically presents with recurrent kidney stones, often beginning in childhood. The stones formed are typically radiopaque and have a characteristic hexagonal crystal appearance on urinalysis.
Usage
Usage note: Do not confuse with cystinosis, a lysosomal storage disorder.
In Context
- "Genetic testing confirmed cystinuria as the underlying cause of recurrent nephrolithiasis." — Genetic consultation report
- "Alkalinization therapy was started to prevent stone formation in this patient with cystinuria." — Treatment protocol
Don't confuse with
cystinosis
cystitis