🧬 405.2: Wilson Disease (Hepatolenticular Degeneration)

Nelson Textbook of Pediatrics 22nd Edition — Wilson disease (ATP7B mutation) → copper accumulation in liver, brain, cornea. Kayser-Fleischer rings (pathognomonic), low serum ceruloplasmin, high 24-hour urinary copper, hepatic copper >250 µg/g. Treatment: chelation (trientine, penicillamine) + zinc. Liver transplant for acute liver failure or end-stage disease.

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📋 30 Clinical Scenarios — Wilson Disease

📇 High‑Yield Review Cards (Wilson Disease)

🩺 Clinical Presentations: Wilson Disease

Select a presentation for diagnostic clues and management.

📋 Stepwise Evaluation & Management of Wilson Disease

🔑 Key Principles — Wilson Disease (Nelson 405.2)
• Diagnosis: low ceruloplasmin (<20 mg/dL), high 24h urinary copper (>100 µg/24h), Kayser-Fleischer rings, hepatic copper >250 µg/g dry weight.
• Treatment goals: Remove excess copper (chelation) and prevent reaccumulation (zinc).
• First-line: Trientine (triethylene tetramine) or penicillamine + zinc. Avoid penicillamine if neurologic symptoms (may worsen).
• Maintenance: Zinc acetate (blocks copper absorption).
• Acute liver failure: Liver transplantation is life-saving.

🧬 405.2: Wilson Disease (Hepatolenticular Degeneration)

📋 30 Clinical Scenarios — Wilson Disease

📇 High‑Yield Review Cards (Wilson Disease)

🩺 Clinical Presentations: Wilson Disease

📋 Stepwise Evaluation & Management of Wilson Disease

⚡ Reflex Prompts — Wilson Disease Clinical Decisions

📖 Wilson Disease — Core Summary (Nelson 405.2)