Cystinuria Diagnosis and Treatment in Thailand

Cystinuria is an inherited disease that causes stones made of the amino acid cystine to form in the kidneys, bladder, and ureters. Inherited diseases are passed down from parents to children through a defect in their genes. To get cystinuria, a person must inherit the defect from both parents.


Cystinuria is usually asymptomatic when no stone is formed, or if stone production is severe or frequent, symptoms may be present;

  • nausea/vomiting
  • Dull ache or colicky pain
  • Chronic pain
  • Hematuria
  • Obstructive syndromes like hydronephrosis
  • Ineffective syndromes like pyelonephritis 

Patients can also experience chronic pain in one, or both, kidneys due to the scars that the jagged edges of the stones can leave or damage from multiple stone removal surgeries.


Cystinuria is usually diagnosed when someone experiences an episode of kidney stones. A diagnosis is then made by testing the stones to see if they are made out of cystine. Rarely is genetic testing done. Additional diagnostic testing could include the following:

  • 24 hour urine collection
  • Intravenous pyelogram
  • Abdominal CT scan
  • urinalysis


Changes to your diet, medications, and surgery are options for treating the stones that form due to cystinuria.

  • Dietary Changes
  • Adjusting pH balance
  • Medications
  • Surgery 

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