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SM ISO690:2012 TOCAN, Mihaela, TOCAN-MUSTEAȚA, Alina. Definirea bolii wilson prin prisma scorului leipzig. In: Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”, 21-23 octombrie 2020, Chişinău. Chişinău: USMF, 2020, p. 268. |
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Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu” 2020 | ||||||
Congresul "Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină şi Farmacie „Nicolae Testemiţanu”" Chişinău, Moldova, 21-23 octombrie 2020 | ||||||
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Background. Wilson Disease (WD) is an autosomal recessive disease caused by mutations in the ATP7B gene, which lead to the pathological accumulation of copper in the body.The Leipzig score (validated in 2001) is used to standardize the diagnosis. The decisive component is determination of the specific mutation. Objective of the study. Evaluation and identification the role of the Leipzig score in the diagnosis of Wilson Disease among members of the same family. Material and Methods. Three family members (father and two sons) were evaluated, as well as the father's relatives (mother, father and sister) who were suspected of Wilson Disease. Diagnostic criteria: clinical symptoms (hepatic/neurological), serum ceruloplasmin levels, urinary copper within 24 hours, free copper ATP7B mutation. The Leipzig score was calculated. Results. The father accumulated the score of 6 points (Genotyping+1; Hepatic copper content+1; Serum ceruloplasmin+2; Urinary copper+2) - a highly suggestive result for WD. Son 1 has a score of 3 points (Genotyping+1; Serum Ceruloplasmin+1; Urinary copper+1) which suggests a probable diagnosis, but requires additional testing. Son 2 has a score of 1 point (serum ceruloplasmin+1) - improbable diagnosis. Thus, the determination of this score confirmed Wilson's disease of the father and thus influenced the initiation of early d-penicillamine therapy. At the same time, the son's suspicion of WD has led to the medical investigation and the evaluation of the results. Conclusion. The Leipzig score was developed to facilitate diagnosis and help clinicians. |
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Cuvinte-cheie ATP7B, Wilson disease, Gena ATP7B, Boala Wilson |
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