28 Wilson's Disease

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Pathophysiology • Mutation in gene ATP7A on Chromosome 13 • Decreased incorporation of copper into apoceruloplasm – Decreased formation and secretion of ceruloplasm • Decreased copper excretion in bile – Loss of primary excretory mechanism • Both increased liver concentrations of Cu – Cu forms free radicals and injures hepatocytes
Fatty infiltration and portal fibrosis Pathology Cirrhosis
Page 1 and 2: Morning Report Chief Residents July
Page 3 and 4: • 1 wk of RUQ pain, NV, fatigue
Page 5 and 6: Physical Exam Vitals: T36.6 HR67 RR
Page 7: Wilson’s Disease • AR defect in
Page 10: 2 diseases involving Cu transport W
Page 15 and 16: Our patient’s slit lamp exam
Page 18 and 19: Diagnosis • Coomb’s negative he
Page 20 and 21: • 2 phases - Removal of copper Tr
Page 22 and 23: • Trientine - Cu chelator Chelato
Page 24 and 25: Dietary Recommendations • Limit i
Page 26 and 27: Liver Transplant Complications •
Page 28 and 29: Back to our patient…. Listed as 1

28 Wilson's Disease

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