🧬 405.1: Inherited Deficient Conjugation of Bilirubin

Nelson Textbook of Pediatrics 22nd Ed — Crigler-Najjar syndrome type I (complete UGT1A1 deficiency, severe unconjugated hyperbilirubinemia, kernicterus risk, no response to phenobarbital, requires phototherapy/exchange/liver transplant). Crigler-Najjar type II (partial deficiency, phenobarbital responsive). Gilbert syndrome (common benign UGT1A1 promoter polymorphism, unconjugated hyperbilirubinemia with fasting/illness).

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📋 30 Clinical Scenarios — Crigler-Najjar & Gilbert Syndromes

📇 High‑Yield Review Cards (Bilirubin Conjugation Defects)

🩺 Clinical Presentations: Unconjugated Hyperbilirubinemia

Select a presentation for diagnosis and management.

📋 Stepwise Evaluation & Management of Bilirubin Conjugation Defects

🔑 Key Principles — Section 405.1 (Nelson)
• Crigler-Najjar type I: Absent UGT1A1 activity, bilirubin >20 mg/dL, no phenobarbital response. Kernicterus risk. Treatment: aggressive phototherapy (12+ hrs/day), exchange transfusion, liver transplantation.
• Crigler-Najjar type II: Partial UGT1A1 activity (∼10%), bilirubin 6-20 mg/dL, responds to phenobarbital. No kernicterus risk. Phenobarbital reduces bilirubin.
• Gilbert syndrome: Common polymorphism (TA)7 promoter, benign, bilirubin <3 mg/dL, often detected incidentally or with fasting/illness. No treatment.

    ⚡ Reflex Prompts — Clinical Decision Making

    📖 Inherited Bilirubin Conjugation Defects — Core Summary