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Title
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Cystinuria
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ImagePath
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System
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Renal amino‑acid transport defect
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Overview
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AR defect of PCT & intestinal AA transporter for COLA (Cys, Orn, Lys, Arg) → ↓ reabsorption → cystine kidney stones.
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Pathophysiology
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Poorly soluble cystine forms hexagonal crystals in urine and staghorn calculi.
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Presentation
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Recurrent flank pain, hematuria, urinary hexagonal crystals, nephrolithiasis in teens/20s.
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Diagnosis
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Cyanide‑nitroprusside urine test +; stone analysis; genetic testing.
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Management
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High‑fluid intake, urinary alkalinization (potassium citrate, acetazolamide), chelation with penicillamine, low‑methionine diet.
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Epidemiology
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Tags
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