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Review
. 2021 May 1;17(4):267-270.
doi: 10.1002/cld.1041. eCollection 2021 Apr.

The Present and Future Challenges of Wilson's Disease Diagnosis and Treatment

Marcia Leung  1 , Paul B Aronowitz  1 , Valentina Medici  2
Affiliations
Review

The Present and Future Challenges of Wilson's Disease Diagnosis and Treatment

Marcia Leung et al. Clin Liver Dis (Hoboken). .
No abstract available

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Figures

FIG 1
FIG 1
Genetic and clinical prevalence. Studies show genetic prevalence of WD is higher (1/7026), whereas the historical clinical prevalence is lower at 1/30,000. Several factors are potentially contributing to this discrepancy. 8
FIG 2
FIG 2
Current and future treatments. Current FDA‐approved treatments are chelating agents and zinc salts. Whereas zinc salts work at preventing copper absorption in the intestine, chelating agents bind copper in the bloodstream. Maintenance treatments include bis‐choline TTM, which works in multiple locations, including hepatocytes, brain, and the bloodstream. 16
See this image and copyright information in PMC

References

    1. Cooper DN, Ball EV, Stenson PD, et al.The Human Gene Mutation Database. Available at: http://www.hgmd.cf.ac.uk/ac/index.php. Published 2017. Accessed August 1, 2020.
    1. Stenson PD, Ball EV, Mort M, et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 2003;21:577‐581. - PubMed
    1. Rodriguez‐Granillo A, Sedlak E, Wittung‐Stafshede P. Stability and ATP binding of the nucleotide‐binding domain of the Wilson disease protein: effect of the common H1069Q mutation. J Mol Biol 2008;383:1097‐1111. - PubMed
    1. Huster D, Hoppert M, Lutsenko S, et al. Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines. Gastroenterology 2003;124:335‐345. - PubMed
    1. Schilsky ML. Wilson disease: clinical manifestations, diagnosis, and treatment. Clin Liver Dis (Hoboken) 2014;3:104‐107. - PMC - PubMed