Authors: V. Smolka 1; A. Petříková 1; L. Kozák 2; Z. Fryšák 3; J. Mathonová 1 Authors‘ workplace: Dětská klinika FN, Olomouc, 1přednosta doc. MUDr. V. Mihál, CSc. Výzkumný ústav zdraví dítěte, Oddělení biochemické a molekulární genetiky, Brno, 2ředitel doc. MUDr. R. Nekvasil, CSc. I. interní klinika FN, Olomouc, 3přednosta prof. MUDr. J. Lukl, CSc. Published in: Čes-slov Pediat 1999; (6): 298-301. Category:
The authors describe two boys, monozygotic twins, with Wilson’s disease manifested by atypical initialsymptoms. Twin A met according to the diagnostic scoring system the criteria for the probable diagnosis ofautoimmune hepatitis. The controversial response to immunosupressive treatment stimulated the application ofthe penicillinamine test and examination of the copper content in hepatic tissue. This examination confirmed thediagnosis of Wilson’s disease. In twin B the first clinical symptom was arthritis of the knee joint on account ofwhich he was treated with sulfasalazine. Establishment of the correct diagnosis in this patient was based on thepositive result of examinations made in twin A.The authors draw attention to the fact that it is necessary to take Wilson’s disease into consideration inparticular in adolescent patients with an obscure hepatopathy even when the ceruloplasmin and serum copperlevels are normal or marginal, when the urinary 24-hour copper excretion is normal and the Kayser-Fleischer ringis absent. In addition to the penicillinamine test and assessment of copper in the liver the diagnosis of Wilson’sdisease can be made by direct DNA analysis. The sensitivity of the method is however limited due to the largenumber of known mutations.
Key words: Wilson’s disease, monozygotic twins, DNA analysis
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