C0019202 - <p>Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need a small amount of copper from food to stay healthy. Too much copper is poisonous.</p> <p>Normally, your liver releases extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and it releases the copper directly into your bloodstream. This can cause damage to your brain, kidneys, and eyes.</p> <p>Wilson disease is present at birth, but symptoms usually start between ages 5 and 35. It first attacks the liver, the central nervous system or both. The most characteristic sign is a rusty brown ring around the cornea of the eye. A physical exam and laboratory tests can diagnose it.</p> <p>Treatment is with drugs to remove the extra copper from your body. You need to take medicine and follow a low-copper diet for the rest of your life. Don't eat shellfish or liver, as these foods may contain high levels of copper. At the beginning of treatment, you'll also need to avoid chocolate, mushrooms, and nuts. Have your drinking water checked for copper content and don't take multivitamins that contain copper.</p> <p>With early detection and proper treatment, you can enjoy good health.</p> <p >NIH: National Institute of Diabetes and Digestive and Kidney Diseases</p> 1/10
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Terms, descriptions
CUI    C0019202
RussianMedical Subject Headings Russian D006527 L3344666preferred S3872145 Y ГЕПАТОЛЕНТИКУЛЯРНАЯ ДЕГЕНЕРАЦИЯ
RussianMedical Subject Headings Russian D006527 L0894445no S1098262 Y GEPATOLENTIKULIARNAIA DEGENERATSIIA
RussianMedical Subject Headings Russian D006527 L1521369no S1817278 Y GEPATOTSEREBRAL'NAIA DISTROFIIA
RussianMedical Subject Headings Russian D006527 L1537383no S1833292 Y PROGRESSIRUIUSHCHAIA LENTIKULIARNAIA DEGENERATSIIA
RussianMedical Subject Headings Russian D006527 L1538152no S1834061 Y PSEVDOSKLEROZ
RussianMedical Subject Headings Russian D006527 L1548318no S1844227 Y VESTFALIA-VIL'SONA-KONOVALOVA BOLEZN'
RussianMedical Subject Headings Russian D006527 L1548425no S1844334 Y VIL'SONA BOLEZN'
RussianMedical Subject Headings Russian D006527 L1548426no S1844335 Y VIL'SONA-KONOVALOVA BOLEZN'
RussianMDRRUS 10019819 L15767458no S19027199 N Гепато-лентикулярная дегенерация
RussianMDRRUS 10019819 L15767458no S19027199 Y Гепато-лентикулярная дегенерация
RussianMDRRUS 10047988 L16061177no S19402544 Y Болезнь Вилсона
RussianMedical Subject Headings Russian D006527 L3342595no S3870077 Y ВЕСТФАЛЯ-ВИЛЬСОНА-КОНОВАЛОВА БОЛЕЗНЬ
RussianMedical Subject Headings Russian D006527 L3342684no S3870166 Y ВИЛЬСОНА БОЛЕЗНЬ
RussianMedical Subject Headings Russian D006527 L3342685no S3870167 Y ВИЛЬСОНА-КОНОВАЛОВА БОЛЕЗНЬ
RussianMedical Subject Headings Russian D006527 L3344681no S3872160 Y ГЕПАТОЦЕРЕБРАЛЬНАЯ ДИСТРОФИЯ
RussianMedical Subject Headings Russian D006527 L3365309no S3892792 Y ПРОГРЕССИРУЮЩАЯ ЛЕНТИКУЛЯРНАЯ ДЕГЕНЕРАЦИЯ
RussianMedical Subject Headings Russian D006527 L3365995no S3893479 Y ПСЕВДОСКЛЕРОЗ
Medical Subject Headings A0067577 AT43116943 A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.
(CPTSP) CRISP Thesaurus A0480805 AT51224855 rare autosomal recessive disease characterized by the deposition of copper in the brain, liver, cornea and other organs; clinical features include liver cirrhosis, liver failure, splenomegaly, tremor, bradykinesia, dysarthria, chorea, muscle rigidity, Kayser-Fleischer rings (pigmented corneal lesions), ataxia and intellectual deterioration; hepatic dysfunction may precede neurologic dysfunction by several years.
Medical Subject Headings Czech A13037162 AT195261739 Wilsonova nemoc / autozomálně recesivně dědičná choroba, při níž je porušen metabolismus mědi. Podstatou je defekt lyzozomálních enzymů (ATPáza zajišťující transport mědi a její biliární sekreci), gen je lokalizován na 13. chromozomu. Měď se hromadí v játrech, je defektní vazba mědi na ceruloplasmin. Má formu hepatální ústící až do jaterního selhání, neurologickou (s poruchou řeči, koordinace pohybů), psychiatrickou, kombinovanou. U pacientů může být Kayserův-Fleischerův prstenec. Koncentrace ceruloplasminu v séru je snížena, rovněž mědi, měď se hromadí v játrech a později též v ledvinách a nervovém systému. V léčbě se uplatňují penicilamin, TETA, zinek, dietní opatření, symptomatická léčba, možná je i transplantace jater. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
NCI Thesaurus A17700814 AT198147185 A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations.
MEDLINEPLUS A21142866 AT203073831

Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need a small amount of copper from food to stay healthy. Too much copper is poisonous.

Normally, your liver releases extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and it releases the copper directly into your bloodstream. This can cause damage to your brain, kidneys, and eyes.

Wilson disease is present at birth, but symptoms usually start between ages 5 and 35. It first attacks the liver, the central nervous system or both. The most characteristic sign is a rusty brown ring around the cornea of the eye. A physical exam and laboratory tests can diagnose it.

Treatment is with drugs to remove the extra copper from your body. You need to take medicine and follow a low-copper diet for the rest of your life. Don't eat shellfish or liver, as these foods may contain high levels of copper. At the beginning of treatment, you'll also need to avoid chocolate, mushrooms, and nuts. Have your drinking water checked for copper content and don't take multivitamins that contain copper.

With early detection and proper treatment, you can enjoy good health.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases