Showing papers by "Michael L. Schilsky published in 1999"
Journal Article•
TL;DR: Improvements in analytic methods for detecting mutations in genomic DNA will someday enable a rapid and cost-effective method of screening for WD, but until then, the time-tested clinical and biochemical evaluation will continue to remain the standard for establishing the diagnosis of WD.
Abstract: Discovery of the gene for WD has greatly enhanced our understanding of this disorder at the cellular level and has set the stage for future testing of new modes of therapy. Improvements in analytic methods for detecting mutations in genomic DNA will someday enable a rapid and cost-effective method of screening for this disorder. Until then, the time-tested clinical and biochemical evaluation, including measurement of ceruloplasmin oxidase activity, slit-lamp examination for Kayser-Fleischer rings, and measurement of hepatic copper content, will continue to remain the standard for establishing the diagnosis of WD.
20 citations
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TL;DR: Patients with either fulminant hepatic failure or hepatic insufficiency unresponsive to medical therapy should be considered for orthotopic liver transplantation, which effectively cures Wilson’s disease.
Abstract: Early diagnosis permits preventive therapy to preempt development of organ damage. In all diagnosed patients, both symptomatic and asymptomatic, pharmacologic therapy is lifelong, and maintenance treatment to prevent copper toxicity is mandatory. Patients with either fulminant hepatic failure or hepatic insufficiency unresponsive to medical therapy should be considered for orthotopic liver transplantation, which effectively cures Wilson's disease. Prognosis is excellent for compliant patients receiving pharmacologic therapy.
7 citations