Version 1
: Received: 11 March 2024 / Approved: 12 March 2024 / Online: 12 March 2024 (07:57:10 CET)
How to cite:
Moraru, L.; Budianu, M.; Musteață, I.; Voidazan, T.S. Epidemiological Study on a Wilson Disease Group of Patients. Preprints2024, 2024030696. https://doi.org/10.20944/preprints202403.0696.v1
Moraru, L.; Budianu, M.; Musteață, I.; Voidazan, T.S. Epidemiological Study on a Wilson Disease Group of Patients. Preprints 2024, 2024030696. https://doi.org/10.20944/preprints202403.0696.v1
Moraru, L.; Budianu, M.; Musteață, I.; Voidazan, T.S. Epidemiological Study on a Wilson Disease Group of Patients. Preprints2024, 2024030696. https://doi.org/10.20944/preprints202403.0696.v1
APA Style
Moraru, L., Budianu, M., Musteață, I., & Voidazan, T.S. (2024). Epidemiological Study on a Wilson Disease Group of Patients. Preprints. https://doi.org/10.20944/preprints202403.0696.v1
Chicago/Turabian Style
Moraru, L., Isabela-Raluca Musteață and Toader Septimiu Voidazan. 2024 "Epidemiological Study on a Wilson Disease Group of Patients" Preprints. https://doi.org/10.20944/preprints202403.0696.v1
Abstract
Background and Objectives: Wilson disease (WD) is a disorder of copper metabolism caused by genetic muta-tions in the ATP7B gene which lead to the accumulation of copper in the body. The aim of the present study is to investigate the severity of WD in patients in Romania. Materials and Methods: This study was conducted us-ing an online questionnaire consisting of 32 questions in a group of patients suffering from Wilson disease. Results: The study included 67 people aged 7 to 56 with WD. The most common symptoms of the participants were hepatic and neurological in 22 cases (32.8%). The most common neurological symptom in the assessed cases was muscle stiffness (49.5%), followed by tremor (45%), and speech disorders (40.5%). The Kay-ser-Fleischer ring was present in 50.7% of the participants. The most commonly used drug treatment in the participants was D-penicillamine (77.61%). Conclusions: The severity of WD is based on many aspects, the most important being early diagnosis and access to treatment throughout the year. The prognosis is favorable with early diagnosis and treatment, but it is crucial to diagnose individuals before they develop major symp-toms. Therefore, advances in WD screening can lead to an earlier diagnosis and better results.
Keywords
Wilson disease; Romania; symptoms; Kayser-Fleischer ring
Subject
Public Health and Healthcare, Public Health and Health Services
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
