An inherited disorder of renal amino acid transport causing excessive urinary excretion of cystine and other dibasic amino acids. Cystine precipitates forming recurrent kidney stones (cystine calculi), potentially leading to renal damage.

• 1Genetic testing
• 2Clinical evaluation
• 3Family history assessment
• 4Specialized laboratory tests
• 5Imaging studies
• 6Biopsy (if applicable)

Good with proper management. Kidney stone recurrence common without treatment. Chronic kidney disease develops in 10-20% of untreated patients. End-stage renal disease rare with modern therapy.

• Genetic counseling
• Carrier screening
• Prenatal diagnosis
• Preimplantation genetic diagnosis
• Family planning