The Wilson's disease - etiology, symptoms in various organs, diagnosis, treatment, prognosis
Introduction: Wilson disease (WD) is a genetic disorder of copper metabolism caused by ATP7B gene mutations, impairing copper excretion and leading to copper accumulation in organs. It affects children and adults, causing liver damage, cirrhosis, neuropsychiatric symptoms, and, if untreated, deat...
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| Format: | Article |
| Language: | English |
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Kazimierz Wielki University
2025-01-01
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| Series: | Journal of Education, Health and Sport |
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| Online Access: | https://apcz.umk.pl/JEHS/article/view/56733 |
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| author | Patryk Graczyk Paulina Klaudia Kwaśniewska Anna Wilewska Kinga Borowiec Agnieszka Borowiec Julia Biernikiewicz Konstanty Alabrudziński Milena Biernikiewicz Bartosz Pomirski Agata Pomirska |
| author_facet | Patryk Graczyk Paulina Klaudia Kwaśniewska Anna Wilewska Kinga Borowiec Agnieszka Borowiec Julia Biernikiewicz Konstanty Alabrudziński Milena Biernikiewicz Bartosz Pomirski Agata Pomirska |
| author_sort | Patryk Graczyk |
| collection | DOAJ |
| description | Introduction:
Wilson disease (WD) is a genetic disorder of copper metabolism caused by ATP7B gene mutations, impairing copper excretion and leading to copper accumulation in organs. It affects children and adults, causing liver damage, cirrhosis, neuropsychiatric symptoms, and, if untreated, death. Symptoms, such as Kayser-Fleischer rings, neurological issues, and low serum ceruloplasmin levels, vary widely, complicating early diagnosis. Although rare, WD is one of the few preventable movement disorders, with treatments available to slow disease progression.
Purpose:
This review aims to enhance understanding and management of WD by summarizing current guidelines and offering practical recommendations for clinical practice.
Material and methods:
In our article, we have comprehensively discussed WD. Reviewing the latest literature, we have summarized the symptoms, etiology, diagnosis, treatment and prognosis of this disease.
Discussion:
Wilson disease remains a significant clinical challenge due to its heterogeneous presentation and difficulty in early diagnosis. Despite effective treatments, that can prevent disease progression, many patients experience delayed diagnosis, leading to irreversible organ damage. Advances in genetic testing and biomarkers have improved diagnostic accuracy, enabling earlier detection and better management outcomes. However, nonadherence to lifelong therapy remains a major hurdle, emphasizing the need for ongoing patient education. Emerging therapies and personalized medicine offer promise for improving outcomes and minimizing long-term complications, highlighting the need for continued research and treatment refinement.
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| format | Article |
| id | doaj-art-9b361d5c72264e6bb4d3fa3204423eff |
| institution | Kabale University |
| issn | 2391-8306 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Kazimierz Wielki University |
| record_format | Article |
| series | Journal of Education, Health and Sport |
| spelling | doaj-art-9b361d5c72264e6bb4d3fa3204423eff2025-01-08T08:16:38ZengKazimierz Wielki UniversityJournal of Education, Health and Sport2391-83062025-01-017710.12775/JEHS.2025.77.56733The Wilson's disease - etiology, symptoms in various organs, diagnosis, treatment, prognosisPatryk Graczyk0https://orcid.org/0009-0006-8963-6882Paulina Klaudia Kwaśniewskahttps://orcid.org/0009-0009-4677-3387Anna Wilewskahttps://orcid.org/0009-0001-5136-4598Kinga Borowiechttps://orcid.org/0009-0000-5546-9787Agnieszka Borowiechttps://orcid.org/0000-0002-1428-170XJulia Biernikiewiczhttps://orcid.org/0009-0004-1192-9365Konstanty Alabrudzińskihttps://orcid.org/0009-0008-4729-0937Milena Biernikiewiczhttps://orcid.org/0009-0006-7288-6965Bartosz Pomirskihttps://orcid.org/0009-0004-4868-0073Agata Pomirskahttps://orcid.org/0009-0009-5367-7123Poznan University of Medical SciencesIntroduction: Wilson disease (WD) is a genetic disorder of copper metabolism caused by ATP7B gene mutations, impairing copper excretion and leading to copper accumulation in organs. It affects children and adults, causing liver damage, cirrhosis, neuropsychiatric symptoms, and, if untreated, death. Symptoms, such as Kayser-Fleischer rings, neurological issues, and low serum ceruloplasmin levels, vary widely, complicating early diagnosis. Although rare, WD is one of the few preventable movement disorders, with treatments available to slow disease progression. Purpose: This review aims to enhance understanding and management of WD by summarizing current guidelines and offering practical recommendations for clinical practice. Material and methods: In our article, we have comprehensively discussed WD. Reviewing the latest literature, we have summarized the symptoms, etiology, diagnosis, treatment and prognosis of this disease. Discussion: Wilson disease remains a significant clinical challenge due to its heterogeneous presentation and difficulty in early diagnosis. Despite effective treatments, that can prevent disease progression, many patients experience delayed diagnosis, leading to irreversible organ damage. Advances in genetic testing and biomarkers have improved diagnostic accuracy, enabling earlier detection and better management outcomes. However, nonadherence to lifelong therapy remains a major hurdle, emphasizing the need for ongoing patient education. Emerging therapies and personalized medicine offer promise for improving outcomes and minimizing long-term complications, highlighting the need for continued research and treatment refinement. https://apcz.umk.pl/JEHS/article/view/56733Wilson diseaseATP7BceruloplasminKayser-Fleischer ring |
| spellingShingle | Patryk Graczyk Paulina Klaudia Kwaśniewska Anna Wilewska Kinga Borowiec Agnieszka Borowiec Julia Biernikiewicz Konstanty Alabrudziński Milena Biernikiewicz Bartosz Pomirski Agata Pomirska The Wilson's disease - etiology, symptoms in various organs, diagnosis, treatment, prognosis Journal of Education, Health and Sport Wilson disease ATP7B ceruloplasmin Kayser-Fleischer ring |
| title | The Wilson's disease - etiology, symptoms in various organs, diagnosis, treatment, prognosis |
| title_full | The Wilson's disease - etiology, symptoms in various organs, diagnosis, treatment, prognosis |
| title_fullStr | The Wilson's disease - etiology, symptoms in various organs, diagnosis, treatment, prognosis |
| title_full_unstemmed | The Wilson's disease - etiology, symptoms in various organs, diagnosis, treatment, prognosis |
| title_short | The Wilson's disease - etiology, symptoms in various organs, diagnosis, treatment, prognosis |
| title_sort | wilson s disease etiology symptoms in various organs diagnosis treatment prognosis |
| topic | Wilson disease ATP7B ceruloplasmin Kayser-Fleischer ring |
| url | https://apcz.umk.pl/JEHS/article/view/56733 |
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