noun
- A rare inherited metabolic disorder characterized by excessive excretion of the amino acid cystine in the urine, often leading to kidney stone formation.
Usage: medical; plural form of cystinuria; typically used in clinical or scientific contexts
Examples
- Cystinurias are autosomal recessive disorders that affect amino acid transport in the kidneys.
- Patients with cystinurias often develop painful kidney stones early in life.
- The diagnosis of cystinurias is confirmed through urine analysis showing elevated cystine levels.
- Treatment for cystinurias may include increased fluid intake and dietary modifications.
- Genetic counseling is recommended for families with a history of cystinurias.