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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
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
Dr.Camel's Paper Summary Blogラクダ博士について
ラクダ博士は、Health Journal が論文の内容を分かりやすく解説するために作成した架空のキャラクターです。
難解な医学論文を、専門知識のない方にも理解しやすいように、噛み砕いて説明することを目指しています。
* ラクダ博士による解説は、あくまで論文の要点をまとめたものであり、原論文の完全な代替となるものではありません。詳細な内容については、必ず原論文をご参照ください。
* ラクダ博士は架空のキャラクターであり、実際の医学研究者や医療従事者とは一切関係がありません。
* 解説の内容は Health Journal が独自に解釈・作成したものであり、原論文の著者または出版社の見解を反映するものではありません。
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 :
- Date Completed n.d.
- Date Revised 2023-02-28
Further Info :
Related Literature
English
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