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SM ISO690:2012 CUMPĂTĂ, Veronica, ŢURCANU, Adela, TCACIUC, Eugen. Phenotypic and genotypic diagnosis of Wilson’s disease: a clinical case. In: Sănătate Publică, Economie şi Management în Medicină , 2022, nr. 2(93-S), pp. 246-251. ISSN 1729-8687. |
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Sănătate Publică, Economie şi Management în Medicină | |||||
Numărul 2(93-S) / 2022 / ISSN 1729-8687 /ISSNe 2587-3873 | |||||
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CZU: 616.831+616.36]-007.17-056.7-07:575.21/.22 | |||||
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Wilson’s disease is a rare genetic disease determined by a mutation of the ATP7B gene, which leads to reduced biliary excretion of copper and its storage in various tissues. Although it is a monogenic disorder, the disease is characterized by extraordinary clinical and genetic diversity. The given article tells about a young man diagnosed with Wilson’s disease. The patient was evaluated according to international protocols: clinical, hematological, biochemical, ophthalmological, imaging, endoscopic and genetic. Thus, according to the results of all investigations, a Leipzig score ≥ 4 points was established, which is valid for a definite diagnosis of Wilson’s disease. The peculiarities of this clinical case are the early onset of the disease with primary manifestations of advanced liver disease, the delay in establishing the diagnosis, the compound heterozygous status, the low compliance of the patient, and the refusal to accept the presence of a genetic disease by the family. |
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Cuvinte-cheie Wilson’s disease, phenotype, genotype, compound heterozygous, Boala Wilson, fenotip, genotip, heterozigot compus, болезнь Вильсона, Фенотип, Генотип, компаунд-гетерозиготный |
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