A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment.

Author: BerenguerMarina, CzlonkowskaAnna, DoubleKay L, DusekPetr, EspinósCarmen, LutsenkoSvetlana, MediciValentina, PapenthinWiebke, PenningLouis C, StremmelWolfgang, WeiskirchenRalf, WillemseJose

Paper Details 
Original Abstract of the Article :
Wilson disease (WD) is a rare, inherited metabolic disorder manifested with varying clinical presentations including hepatic, neurological, psychiatric, and ophthalmological features, often in combination. Causative mutations in the <i>ATP7B</i> gene result in copper accumulation in hepatocytes and/...See full text at original site
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引用元:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9953205/

データ提供:米国国立医学図書館(NLM)

Wilson Disease: A Century of Progress and Enduring Challenges

Wilson disease (WD) is a rare, inherited metabolic disorder that causes copper to accumulate in the liver, brain, and other organs. This review provides a comprehensive overview of the history, diagnosis, and treatment of WD. The authors discuss the challenges of diagnosing WD, highlighting the complexities of genetic testing, clinical presentations, and laboratory tests.

The authors emphasize the importance of early diagnosis and treatment to prevent progressive damage and improve outcomes. They also discuss the need for ongoing research to develop new diagnostic tools and treatments for WD.

Understanding Wilson Disease: A Collaborative Effort

The authors highlight the importance of collaboration between researchers, clinicians, and patient advocacy groups to address the challenges of WD. This collaborative approach is essential for improving the diagnosis, treatment, and care of individuals with this rare disorder.

Living with Wilson Disease: A Journey of Hope and Support

WD can present significant challenges, but there is hope. Early diagnosis and treatment can significantly improve outcomes and quality of life. This review underscores the need for continued research, awareness, and support for individuals living with WD.

Dr. Camel's Conclusion

Imagine a desert oasis where a group of camels are affected by a rare disease that causes copper to accumulate in their bodies. This is like Wilson disease, a challenging condition that requires careful diagnosis and treatment. This review highlights the progress made in understanding and managing WD over the past century. It also underscores the need for continued research and collaboration to improve the lives of individuals affected by this rare disorder.

Date :
  1. Date Completed n.d.
  2. Date Revised 2023-02-28
Further Info :

Pubmed ID

36830958

DOI: Digital Object Identifier

PMC9953205

Related Literature

SNS
PICO Info
in preparation
Languages

English

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