Definition

cystinurias

noun
  1. A rare inherited metabolic disorder characterized by excessive excretion of the amino acid cystine in the urine, often leading to kidney stone formation.
  2. 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.

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