Wilson Disease: Update on Pathophysiology and Treatment.

Author: DevSom, HamiltonJames P, KruseRobert L, LutsenkoSvetlana

Paper Details 
Original Abstract of the Article :
Wilson disease (WD) is a potentially fatal genetic disorder with a broad spectrum of phenotypic presentations. Inactivation of the copper (Cu) transporter ATP7B and Cu overload in tissues, especially in the liver, are established causes of WD. However, neither specific ATP7B mutations nor hepatic Cu...See full text at original site
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引用元:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9108485/

データ提供:米国国立医学図書館(NLM)

Wilson Disease: Unveiling the Complexities of Copper Overload

Wilson disease, a rare genetic disorder that leads to copper accumulation in the body, is like a desert oasis, where an excess of a vital resource can become a threat. This comprehensive review delves into the intricate world of Wilson disease, exploring its pathophysiology, treatment options, and emerging research frontiers. The researchers, like skilled desert explorers, are uncovering the secrets of this complex disorder, paving the way for better diagnosis and treatment.

The Intricacies of Wilson Disease: A Journey into the Desert of Copper Overload

This review, like a detailed map of a desert landscape, provides a thorough exploration of Wilson disease, highlighting the key role of the ATP7B gene, a crucial player in copper transport. The researchers, like scientists meticulously examining the desert’s flora and fauna, delve into the complexities of copper overload, exploring the diverse clinical presentations and the potential impact on various organs and tissues. This comprehensive overview provides valuable insights into the mechanisms underlying Wilson disease.

A Glimmer of Hope for Wilson Disease Patients: Emerging Targets for Treatment and Diagnosis

The review, like a beacon of hope in a desert wasteland, highlights emerging targets for improving Wilson disease diagnosis and treatment. The researchers, like dedicated desert healers, are exploring new avenues for managing copper overload, focusing on non-parenchymal liver cells, extrahepatic tissues, and the role of nuclear receptors. This research, like a journey through a challenging desert, offers a glimmer of hope for individuals with Wilson disease, paving the way for more effective and personalized treatment strategies.

Dr.Camel's Conclusion

This review, like a desert oasis offering respite and knowledge, provides a comprehensive understanding of Wilson disease, highlighting the complexities of copper overload and the potential for new therapeutic approaches. This journey into the desert of scientific discovery continues, as we seek to improve the diagnosis and treatment of this challenging disorder, offering a beacon of hope for a healthier future.

Date :
  1. Date Completed n.d.
  2. Date Revised 2023-05-13
Further Info :

Pubmed ID

35586338

DOI: Digital Object Identifier

PMC9108485

Related Literature

SNS
PICO Info
in preparation
Languages

English

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