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

Veronica Cumpata; Adela Turcanu; Eugen Tcaciuc

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

Autori

Veronica Cumpata Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“ https://orcid.org/0000-0003-1921-8192
Adela Turcanu Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“ https://orcid.org/0000-0002-7684-1768
Eugen Tcaciuc Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“ https://orcid.org/0000-0002-2362-1788

Cuvinte cheie:

Boala Wilson, fenotip, genotip, heterozigot compus

Rezumat

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.

Referințe

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Descărcări

Publicat

03.05.2026

Număr

Nr. 2(93) (2022): Supliment. Zilele Medicale ale Spitalului Clinic Municipal „Sfântul Arhanghel Mihail”

Secțiune

Articole

Licență

Această lucrare este licențiată în temeiul Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

Cum cităm

[1]

Cumpata, V. et al. 2026. Phenotypic and genotypic diagnosis of Wilson’s disease: a clinical case. Sănătate Publică, Economie şi Management în Medicină. 2(93) (May 2026), 246–251.