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Wilson's disease: 35 years' experience.

J Y Lau1, C L Lai, P C Wu

  • 1Department of Medicine, University of Hong Kong, Queen Mary Hospital.

The Quarterly Journal of Medicine
|June 1, 1990
PubMed
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This summary is machine-generated.

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Wilson's disease affects males and females equally, often presenting before age 30. Penicillamine treatment improved symptoms in 70% of patients, with serum caeruloplasmin indicating prognosis.

Area of Science:

  • Hepatology
  • Genetics
  • Internal Medicine

Background:

  • Wilson's disease is a rare autosomal recessive genetic disorder.
  • It leads to excessive copper accumulation in organs, primarily the liver and brain.
  • Early diagnosis and treatment are crucial to prevent irreversible organ damage.

Purpose of the Study:

  • To review the clinical characteristics and outcomes of Wilson's disease patients in China.
  • To identify prognostic factors and assess treatment efficacy.
  • To understand the disease's presentation and genetic penetrance in a specific population.

Main Methods:

  • Retrospective review of 37 Chinese patients diagnosed with Wilson's disease over 35 years.
  • Analysis of clinical presentation, family screening, laboratory tests, and treatment responses.

Related Experiment Videos

  • Statistical analysis to determine prognostic significance of biochemical markers.

    • Main Results:

    • Equal male and female prevalence; 22 symptomatic and 15 asymptomatic cases, mostly presenting before the third decade.
    • Abnormal liver function tests in 50% of patients; gamma-glutamyltranspeptidase identified as a sensitive index.
    • Serum caeruloplasmin level was a significant prognostic indicator (p = 0.0001).
    • 70% of symptomatic patients improved with penicillamine treatment; renal disease was infrequent.

    Conclusions:

    • Wilson's disease in Chinese patients presents similarly to other populations, with variable liver involvement.
    • Serum caeruloplasmin is a key biochemical marker for prognosis in Wilson's disease.
    • Penicillamine is an effective treatment, leading to significant improvement in most symptomatic patients.