Phenotypic and genotypic diagnosis of Wilson’s disease: a clinical case

Veronica Cumpata; Adela Turcanu; Eugen Tcaciuc

Diagnosticul fenotipic și genotipic al bolii Wilson: caz clinic

Authors

Veronica Cumpata Nicolae Testemițanu State University of Medicine and Pharmacy https://orcid.org/0000-0003-1921-8192
Adela Turcanu Nicolae Testemițanu State University of Medicine and Pharmacy https://orcid.org/0000-0002-7684-1768
Eugen Tcaciuc Nicolae Testemițanu State University of Medicine and Pharmacy https://orcid.org/0000-0002-2362-1788

Keywords:

Wilson’s disease, phenotype, genotype, compound heterozygous

Abstract

Boala Wilson reprezinta o maladie genetica rară determinata de o mutația genei ATP7B, ce duce la reducerea excreției biliare a cuprului și depozitarea lui în diferite țesuturi. Deși, este o tulburare monogenică, boala se caracterizează printr-o diversitate clinică și genetică extraordinară. Articolul dat relatează despre un tânar diagnosticat cu boala Wilson. Bolnavul a fost evaluat conform protocoalelor internaționale: clinic, hematologic, biochimic, oftalmologic, imagistic, endoscopic și genetic. Astfel, conform rezultatelor tuturor investigațiilor s-a stabilit un scor Leipzig ≥ 4 puncte, ce este valabil pentru un diagnostic cert de boală Wilson. Particularitățile acestui caz clinic sunt debutul precoce a bolii cu manifestări primare de boală hepatică avansată, întârzierea stabilirii diagnosticului, statutul de heterozigot compus, complianța redusă a pacientului și refuzul de a accepta prezența unei boli genetice de către familie.

References

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2026-05-03

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No. 2(93) (2022): Supliment. Zilele Medicale ale Spitalului Clinic Municipal „Sfântul Arhanghel Mihail”

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Cumpata, V. et al. 2026. Diagnosticul fenotipic și genotipic al bolii Wilson: caz clinic. Public Health Economy and Management in Medicine. 2(93) (May 2026), 246–251.

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Diagnosticul fenotipic și genotipic al bolii Wilson: caz clinic

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