Wilson’s Disease

A Clinician’s Guide to Recognition, Diagnosis, and Management

Häftad, Engelska, 2012

AvGeorge J. Brewer

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Movement disorder specialists, general neurologists, hepatologists, general gastroenterologists, and psychiatrists are the specialists who will most likely see some Wilson's disease patients during their careers. See them - yes. Recognize and diagnose them - maybe. If you are in one of these specialties, and a patient with tremor, hepatitis, cirrhosis, apparent Parkinsonism, or mood disorder, is referred to you, will you appropriately recognize the possibility that the underlying diagnosis may be Wilson's disease? Wilson's disease is both treatable and reversible, and commonly misdiagnosed. This book aims to change this with comprehensive coverage of every aspect of Wilson's disease, from well-catalogued, easy-to-use clinical diagnostic tools to treatment methods to molecular biology. Dr. Brewer is the world's leading expert on Wilson's disease, seeing and caring for over 300 patients with the disease during the last 20 years. He is a professor of human genetics at the University of Michigan.

Produktinformation

Utgivningsdatum2012-10-21
Mått155 x 235 x 13 mm
Vikt347 g
FormatHäftad
SpråkEngelska
Antal sidor190
FörlagSpringer-Verlag New York Inc.
ISBN9781461356578

Tillhör följande kategorier

Medicinsk genetik inom Medicin
Klinisk medicin och internmedicin inom Medicin
Biovetenskap inom Naturvetenskap och teknik
Neurologi och klinisk neurofysiologi inom Medicin

1. Overview of the Disease for the Clinician.- Cause of Wilson’s disease.- Inheritance.- Clinical Presentations.- Recognition Problem.- Some Screening Tests are Accurate.- Diagnosis is Usually Straightforward.- Treatment and Management Concepts.- Monitoring and Compliance.- Prognosis.- 2. The Clinician’s Challenge: Recognizing Wilson’s Disease.- The Neurological Presentation.- The Hepatic Presentation.- The Behavioral Change Presentation.- The Presymptomatic Patient.- Other Situations in Which Wilson’s Disease May be Present.- Key Points with Respect to Recognition of Possible Wilson’s Disease.- 3. Simple Approaches to Screening and Definitive Diagnosis.- Screening Tests and Procedures.- How to Screen Patients for Wilson’s disease.- Making a Definitive Diagnosis of Wilson’s Disease.- Disasters and Near Disasters Related to Screening and Diagnostic Tests.- 4. Description of the Anticopper Drugs Which are Used in Wilson’s Disease Therapy.- Zinc.- Trientine.- Tetrathiomolybdate.- Penicillamine.- Other Anticopper Drugs.- 5. Overview of Management for the Clinician: What’s Important and What’s Not.- Anticopper Drug Therapy Overview—Important.- Diet—Generally Not Important.- Drinking Water—Occasionally Important.- Patients Signs and Symptoms—Always Important.- 6. Initial Treatment of Patients Who Present With Liver Disease.- Initial Therapy of Patients With Hepatic Failure.- Initial Therapy of Patients with Hepatitis.- 7. Initial Treatment of Patients Who Present With Neurological and/or Psychiatric Disease.- Neurological Worsening of Patients with Initial Penicillamine Therapy.- Recommended Therapy—Tetrathiomolybdate.- Alternative Therapies.- 8. Maintenance Therapy.- Recommended Maintenance Therapy—Zinc.- Alternative Maintenance Therapy.- 9.Therapy of the Presymptomatic, the Pediatric, and the Pregnant Patient.- Therapy for the Presymptomatic Patient.- Therapy for the Pediatric Patient.- Therapy for the Pregnant Patient.- 10. Risk Factors during Maintenance Therapy and Prognosis.- A General Risk Factor—Poor Compliance.- Hepatic Risk Factors.- Neurological Risk Factors.- Psychiatric Risk Factors.- Prognosis.- 11. Disease Pathogenesis and Genetics.- Does Copper Toxicity Cause Wilson’s Disease?.- Normal Copper Handling.- Defective Biliary Excretion of Copper in Wilson’s Disease.- The Genetics of Wilson’s Disease.- From Gene Defect to Copper Accumulation, Organ Damage, and Symptoms.- Animal Models.- Summary of Our Knowledge of Pathogenesis.- 12. Disease Pathology.- The Nature of Copper Toxicity.- Liver Pathology.- Brain Pathology.- Pathology in Other Organs.- Summary.- 13. History, Important Milestones, and the Future.- History of Wilson’s Disease.- Future Challenges.- Summary.