Pharmacology notes

Apr 15th, 2015
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Pharmacology notes

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WILSONS DISEASE HEMOCHROMATOSISEU MBCHB 6DR D M KILLINGOWilson's DiseaseDefinition Autosomal recessive defect in copper metabolism(gene ATP7B)Pathology Decreased biliary excretion of copper plus decreasedincorporation of copper into ceruloplasminClinical Manifestations Liver: acute hepatitis, fulminant liver failure, chronic activehepatitis, cirrhosis, low risk of hepatocellular carcinoma Eyes: Kayser-Fleischer rings (copper deposits inDescemet's membrane); more common inpatients withCNS involvement, present in 50% if only liverinvolvement CNS: basal ganglia (wing flapping tremor, Parkinsonism),cerebellum (dysarthria, dysphagia,incoordination, ataxia),cerebrum (psychosis, affective disorder) Kidneys: Fanconi's syndrome (proximal tubule transportdefects) and stones Blood: intravascular hemolysis; may be initial presentationin fulminant hepatitis Joints: arthritis, bone demineralization, calcificationsInvestigations Suspect if increased liver enzymes with clinicalmanifestations at young age ( <30); especiallycombination of liver disease with dystonia,psychiatric symptoms Screening tests:1. Reduced serum ceruloplasmin (<50% of normal)2. Kayser-Fleischer rings (usually require slit-lampexamination)3. Increased urinary copper excretion Gold standard:1. Increased copper on liver biopsy by quantitativeassay2. Genetic analysis imperfect as many mutations inTreatment 4 drugs available:1. pe

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