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[Analysis of 128 Wilson's disease]
Summary
Wilson's disease presents with diverse symptoms, leading to a high misdiagnosis rate. Early detection is aided by Kayser-Fleischer rings and copper oxidase levels, crucial for accurate Wilson's disease diagnosis.
Area of Science:
- Hepatology and Neurology
- Genetic Metabolic Disorders
Context:
- Wilson's disease is a rare inherited disorder of copper metabolism.
- Clinical presentation is highly variable, often delaying diagnosis.
Purpose:
- To analyze the clinical features and misdiagnosis patterns in 128 Wilson's disease patients.
- To identify key diagnostic indicators for improved early detection.
Summary:
- Liver dysfunction (64 patients) and central nervous system (CNS) manifestations (52 patients) were common initial symptoms.
- Patients with liver dysfunction were significantly younger (13 years) than those with CNS symptoms (23 years).
- High positive rates were observed for Kayser-Fleischer rings (96.8%) and low copper oxidase absorbency (93%).
Impact:
- The study highlights a significant misdiagnosis rate (42.9%), often mistaken for hepatitis.
- Cornea Kayser-Fleischer rings and copper oxidase levels are recommended as convenient and effective diagnostic tools for Wilson's disease.