"Neurologick\u00E1 forma Wilsonovy nemoci" . "13" . "Wilson disease; hepatolenticular degeneration; hepatopathy; ATP7B; chelation therapy"@en . . . . "Neurologick\u00E1 forma Wilsonovy nemoci"@cs . . "Du\u0161ek, Petr" . . "RIV/00064165:_____/11:9775" . "Neurological form of Wilson disease"@en . "7"^^ . . "I, Z(MSM0021620849)" . "5" . "2"^^ . "Neurologick\u00E1 forma Wilsonovy nemoci" . "RIV/00064165:_____/11:9775!RIV12-MZ0-00064165" . "Neurological form of Wilson disease"@en . . . "Wilsonova nemoc je vz\u00E1cn\u00E9 autosom\u00E1ln\u011B recesivn\u00ED metabolick\u00E9 onemocn\u011Bn\u00ED vedouc\u00ED k akumulaci m\u011Bdi ve tk\u00E1n\u00EDch, kter\u00E1 postihuje zejm\u00E9na j\u00E1tra a mozek. Dysfunkce genu ATP7B vede k poru\u0161e vylu\u010Dov\u00E1n\u00ED m\u011Bdi z hepatocyt\u016F do \u017Elu\u010Dov\u00FDch cest a k poru\u0161e inkorporace m\u011Bdi do ceruloplazminu. Klinick\u00E9 projevy neuropsychiatrick\u00E9 formy Wilsonovy nemoci jsou velmi variabiln\u00ED a onemocn\u011Bn\u00ED je t\u0159eba zva\u017Eovat u jak\u00E9hokoliv pacienta s extrapyramidovou, cerebel\u00E1rn\u00ED \u010Di psychiatrickou symptomatikou vzniklou v rozmez\u00ED 3.\u201355. roku v\u011Bku, zejm\u00E9na p\u0159i anamn\u00E9ze hepat\u00E1ln\u00ED poruchy. Nej\u010Dast\u011Bj\u0161\u00EDmi p\u0159\u00EDznaky jsou t\u0159es, dysartrie, deprese, d\u00E1le parkinsonsk\u00FD syndrom, ataxie, dystonie a kognitivn\u00ED poruchy. Diagn\u00F3za se stanovuje na z\u00E1klad\u011B p\u0159\u00EDtomnosti charakteristick\u00FDch p\u0159\u00EDznak\u016F, zejm\u00E9na Kayser-Fleischerova prstence, typick\u00E9ho n\u00E1lezu na magnetick\u00E9 rezonanci mozku, sn\u00ED\u017Een\u00E9ho ceruloplazminu, zv\u00FD\u0161en\u00E9 hladiny voln\u00E9 s\u00E9rov\u00E9 m\u011Bdi, vylu\u010Dov\u00E1n\u00ED m\u011Bdi mo\u010D\u00ED a obsahu m\u011Bdi v jatern\u00ED su\u0161in\u011B. Velmi u\u017Eite\u010Dn\u00E9 je i genetick\u00E9 vy\u0161et\u0159en\u00ED. Stanovit diagn\u00F3zu a zah\u00E1jit terapii je t\u0159eba co nejd\u0159\u00EDve, nebo\u0165 hroz\u00ED riziko ireverzibiln\u00EDho po\u0161kozen\u00ED tk\u00E1n\u00ED mozku a jater. V terapii se uplat\u0148uje dosa\u017Een\u00ED negativn\u00ED bilance m\u011Bdi, z\u00E1kladem je dieta, chelata\u010Dn\u00ED l\u00E9\u010Dba penicilaminem a l\u00E9\u010Dba zinkem sni\u017Euj\u00EDc\u00ED absorpci m\u011Bdi." . "R\u016F\u017Ei\u010Dka, Ev\u017Een" . . "CZ - \u010Cesk\u00E1 republika" . . . . "1"^^ . "[CED5D8431360]" . "215679" . "1212-4184" . "Neurologick\u00E1 forma Wilsonovy nemoci"@cs . . . "Wilsonova nemoc je vz\u00E1cn\u00E9 autosom\u00E1ln\u011B recesivn\u00ED metabolick\u00E9 onemocn\u011Bn\u00ED vedouc\u00ED k akumulaci m\u011Bdi ve tk\u00E1n\u00EDch, kter\u00E1 postihuje zejm\u00E9na j\u00E1tra a mozek. Dysfunkce genu ATP7B vede k poru\u0161e vylu\u010Dov\u00E1n\u00ED m\u011Bdi z hepatocyt\u016F do \u017Elu\u010Dov\u00FDch cest a k poru\u0161e inkorporace m\u011Bdi do ceruloplazminu. Klinick\u00E9 projevy neuropsychiatrick\u00E9 formy Wilsonovy nemoci jsou velmi variabiln\u00ED a onemocn\u011Bn\u00ED je t\u0159eba zva\u017Eovat u jak\u00E9hokoliv pacienta s extrapyramidovou, cerebel\u00E1rn\u00ED \u010Di psychiatrickou symptomatikou vzniklou v rozmez\u00ED 3.\u201355. roku v\u011Bku, zejm\u00E9na p\u0159i anamn\u00E9ze hepat\u00E1ln\u00ED poruchy. Nej\u010Dast\u011Bj\u0161\u00EDmi p\u0159\u00EDznaky jsou t\u0159es, dysartrie, deprese, d\u00E1le parkinsonsk\u00FD syndrom, ataxie, dystonie a kognitivn\u00ED poruchy. Diagn\u00F3za se stanovuje na z\u00E1klad\u011B p\u0159\u00EDtomnosti charakteristick\u00FDch p\u0159\u00EDznak\u016F, zejm\u00E9na Kayser-Fleischerova prstence, typick\u00E9ho n\u00E1lezu na magnetick\u00E9 rezonanci mozku, sn\u00ED\u017Een\u00E9ho ceruloplazminu, zv\u00FD\u0161en\u00E9 hladiny voln\u00E9 s\u00E9rov\u00E9 m\u011Bdi, vylu\u010Dov\u00E1n\u00ED m\u011Bdi mo\u010D\u00ED a obsahu m\u011Bdi v jatern\u00ED su\u0161in\u011B. Velmi u\u017Eite\u010Dn\u00E9 je i genetick\u00E9 vy\u0161et\u0159en\u00ED. Stanovit diagn\u00F3zu a zah\u00E1jit terapii je t\u0159eba co nejd\u0159\u00EDve, nebo\u0165 hroz\u00ED riziko ireverzibiln\u00EDho po\u0161kozen\u00ED tk\u00E1n\u00ED mozku a jater. V terapii se uplat\u0148uje dosa\u017Een\u00ED negativn\u00ED bilance m\u011Bdi, z\u00E1kladem je dieta, chelata\u010Dn\u00ED l\u00E9\u010Dba penicilaminem a l\u00E9\u010Dba zinkem sni\u017Euj\u00EDc\u00ED absorpci m\u011Bdi."@cs . . . . "Wilson disease is a rare autosomal recessive metabolic disorder leading to tissue copper accumulation and hepatic and brain damage. Dysfunctional ATP7B gene prevents copper excretion from hepatocytes and copper incorporation into ceruloplasmin. Clinical features of the neuropsychiatric form of Wilson disease are variable and it should be considered in case of any extrapyramidal, cerebellar or psychiatric disorder manifested between 3-55 years, namely in case of hepatal disorder history. Most common symptoms are tremor, dysarthria, depression, but also parkinsonism, ataxia, dystonia and cognitive decline. Diagnosis is based on the presence of characteristic symptoms: Kayser-Fleischer ring, typical brain magnetic resonance abnormalities, low blood ceruloplasmin, high urine 24-hours copper excretion, free serum copper and dry-weight liver copper content. Genetic examination is also very heplful. Diagnosis and treatment initiation should not be delayed, since there is a risk of irreversible liver and brain damage. Treatment is based on maintaining a negative copper balance. Chelation therapy with penicillamine and zinc therapy leading to decreased copper absorption is the mainstay of Wilson disease treatment."@en . "Postgradu\u00E1ln\u00ED medic\u00EDna" . . .