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A case study: identifying a new case of Wilson's disease.

Author(s): Noble JA

Affiliation(s): Ball State University, Muncie, Indiana, USA. janoble@bsu.edu

Publication date & source: 2005-12, J Am Acad Nurse Pract., 17(12):512-7.

Publication type: Case Reports; Review

PURPOSE: To present a case of Wilson's disease that presented with fatigue, nausea, abdominal pain, and splenomegaly. Patient information, diagnostic tests, etiology, anatomy and physiology, pathophysiology, assessment, signs and symptoms, diagnosis, medical treatment, nursing interventions, patient education, and research findings related to Wilson's disease are discussed. DATA SOURCES: Case study and scientific literature from Internet, journals, and medical textbooks. CONCLUSIONS: Wilson's disease is a hereditary, autosomal-recessive disease affecting copper excretion. As copper accumulates, signs and symptoms appear. Individuals often present with nonspecific findings, making diagnosis difficult. IMPLICATIONS FOR PRACTICE: This article reviews this rare but potentially devastating disease. Early diagnosis is vital to prevent copper accumulation leading to hepatic cirrhosis, basal ganglia degeneration, and irreversible organ damage.

Page last updated: 2006-11-04

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