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Nephrology & Renal Medicine

Cystinuria

ICD-10 Code
E72.01

Autosomal recessive defect in the proximal tubular reabsorption of dibasic amino acids (COLA: Cystine, Ornithine, Lysine, Arginine). Cystine is highly insoluble, leading to recurrent hexagonal cystine crystal kidney stones.

Clinical Presentation & Protocol

Patient Usually Complains Of

Patient presents with a history of recurrent nephrolithiasis. Reports episodes of colicky flank pain, hematuria, and passage of gravel/stones. Known diagnosis of Cystinuria (ICD-10: E72.01). Review of systems positive for prior urological interventions (lithotripsy/ureteroscopy). Family history significant for autosomal recessive inheritance.

Clinical Examination Findings

General: Patient appears in mild distress secondary to pain. Vitals: Afebrile, BP stable. Abdomen: Soft, non-distended, positive tenderness at the costovertebral angle (CVA) on the affected side. No palpable masses. Skin: Normal turgor, no signs of dehydration.

Treatment Protocol

Plan: 1. High fluid intake (>3L/day) to maintain urine volume >2.5L. 2. Urinary alkalinization (Potassium Citrate) to maintain pH 7.0-7.5. 3. Cystine-binding thiol drugs (e.g., Tiopronin or D-penicillamine) if conservative measures fail. 4. Low-methionine/low-sodium diet. 5. Regular monitoring of 24-hour urinary cystine levels.

Detailed clinical guide coming soon.