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wilsons disease

wilsons disease. By: Brittni McClellan. Wilsons disease - description. Description: Hepatolenticular Degeneration Disorder of copper metabolism affecting the liver and brain. Genetics: Autosomal Recessive WD Gene (ATP7B) Chromosome 13q14.3 – ATPase

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wilsons disease

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  1. wilsons disease By: Brittni McClellan

  2. Wilsons disease - description • Description: • Hepatolenticular Degeneration • Disorder of copper metabolism affecting the liver and brain. • Genetics: • Autosomal Recessive • WD Gene (ATP7B) • Chromosome 13q14.3 – ATPase • Protein facilitates biliary excretion of excess copper and incorporates copper into apo-ceruloplasmin for transport. • Heterozygotes: Asymptomatic

  3. Wilsons disease - Pathophysiology • Loss of ATP7b  Impaired Biliary Copper Excretion and Impaired Ceruloplasmin Biosynthesis • Accumulation: • 1st: Liver (Cirrhosis) • 2nd: Brain (Basal Ganglia)  Impaired Motor Control

  4. wilsons disease – H&P • Patient History: • Hepatic:: • Asymptomatic Hepatomegaly • Elevated Transaminases • Chronic Hepatitis • Fulminant Hepatic Failure • Neurologic: Rate Before Age 10 • Behavioral Change, Decline in School Performance • Poor Hand-Eye Coordination • Motor Abnormalities: Dystonia, Tremors, Dysphagia • Psychiatric: • Depression, Anxiety, Psychosis, OCD • Other: • Abdominal Pain, Nausea, Anorexia, Fatigue

  5. Wilson’s disease – H&P Physical Exam: • Ophthalmologic: • Kayser-Fleischer Rings: Copper deposits on Descemet Membrane of Cornea • Visualize with: Slit Lamp • Cardiovascular: • Cardiomyopathy, Dysrhythmia, CHF • Abdominal: • Hepatomegaly • Ascites • Splenomegaly • Skin: • Jaundice • Bleeding Diathesis from Liver Disease • Edema • Neurologic: • Movement Disorders • Neurologic Deficits

  6. wilsons disease - Diagnosis Diagnosis: • Serum Ceruloplasmin: • Low • Serum Copper: Low (<80) • Increased if in Acute Fulminant Liver Failure (Sudden Release of Stores) • Urinary Copper Excretion: • Reflects Unbound Copper in Blood • High Levels (>100/24hours) • Other: • Elevated Aminotransferase Levels • Genetic Screening

  7. wilsons disease - imaging Diagnosis: • Imaging: • Abdominal ultrasound for liver size and pathology • MRI (Brain): • Basal Ganglia Focus • “Face of the giant panda” sign that is characteristic of Wilson disease (red nuclei, substantia nigra, tegmentum) • Biopsy

  8. wilsons disease – treatment • Medication • Penicillamine: • Copper Chelatior • Promoted Renal Excretion • Induces Metallothionein  Interferes with Collagen Cross Linking/Immunosuppressant • Must give with Pyridoxine (Vitamin B6) • Trientine: • DRUG OF CHOICE • Copper Chelator • Promotes Renal Excretion • Fewer Side Effects than Penicillamine • Must give with Zinc • Interferes with Absorption from GI Tract • Also Chelates Iron (Do not give Supplemental Fe)

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