Wilson's disease
__BEZOBSAHU__ Template:Infobox - genetická choroba
Wilson's disease, hepatolenticular degeneration is an autosomal recessively inherited metabolic disease with a prevalence of approximately 1:25 000–30 000 and a frequency of heterozygotes in the population of approximately 1:90. It is characterized by abnormal accumulation of copper in the liver, which causes liver cell damage, CNS dysfunction and hemolytic anemia.[1]
Etiopatogenesis[edit | edit source]
The disease is caused by a mutation in the ATP7B gene on chromosome 13 (13q14.3–q21.1). This gene encodes a copper-transporting ATPase.
A defect in this protein results in impaired biliary excretion of copper and incorporation of copper into apoceruloplasmin in hepatocytes. As a result of impaired copper excretion into the bile, this metal accumulates in the liver, brain and other organs and leads to an excess of free radicals causing damage to these organs.
Clinical picture[edit | edit source]
- Neurological manigestations – tremor, deterioration of school performance, deterioration of handwriting (motor disorders), mental changes, progression to severe extrapyramidal syndrome.
- Anemia,coagulation disorders due to portal hypertension.
- Gradual progression of liver fibrosis to cirhhosis – jaundice, arachnid hemangiomas, portal hypertension, liver failure[1].
- In 5% of those affected, the disease manifests as fulminant liver failure.
- Other possible symptoms: renal acidosis, bone disease, hormonal disorders, growth disorders.
Diagnostics[edit | edit source]
- decreased serum ceruloplasmin levels;
- increased urinary excretion of copper (in 24 hours);
- Kayser-Fleischer ring at the edge of the cornea[2];
- hemolysis;
- increased copper content in the liver;[1];
- the diagnosis can be confirmed by molecular genetic testing of the ATP7B gene (it is also available in the Czech Republic).
Therapy[edit | edit source]
- lifelong treatment is the prevention of liver and CNS damage;
- reduction of copper-rich foods (sea fish, chocolate, cocoa);
- administration of copper chelating drugs (Penicillamine 1000 mg / day);
- zinc – reduces the resorption of copper by the intestine;
- monitoring urinary excretion of copper[1];
- liver transplantation.
Summary video[edit | edit source]
Odkazy[edit | edit source]
Související články[edit | edit source]
Externí odkazy[edit | edit source]
Reference[edit | edit source]
- ↑ a b c d KLIEGMAN, Robert M. – MARCDANTE, Karen J. – JENSON, Hal B.. Nelson Essentials of Pediatrics. 5. edition. China : Elsevier Saunders, 2006. pp. 619-620. ISBN 978-0-8089-2325-1.
- ↑ VOKURKA, Martin – HUGO, Jan. Velký lékařský slovník [online] . 8. edition. Maxdorf, 2009. 1144 pp. Available from <http://lekarske.slovniky.cz/>. ISBN 978-80-7345-166-0.
Použitá literatura[edit | edit source]
- MAREČEK, Zdeněk. Diagnostika a léčba Wilsonovy choroby [online]. [cit. 2009-12-14]. <http://web.archive.org/web/20100805235116/http://www.ceska-hepatologie.cz:80/index.php?node=44#content-left>.
- ČEŠKA, Richard, et al. Interna. 1. edition. Praque : Triton, 2010. 855 pp. ISBN 978-80-7387-423-0.
