Epidemiology, Evaluation and Management of Wilson Disease: Review Article

Jamal, Alotaibi. Saad and Alem, Manal Abdulrahman and M, Alsarraj, Nawaf Faiq and Alqerafi, Ahmed Abdulaziz A. and Alharbi, Fahad Ayed and Abdulrahman S., Al zahrani, Adel and Saeed A., Alghamdi, Ibrahim and Aloufi, Nada Muidh and Alshehri, Turki Mohammed A. and Hussein, Mohammed Salah (2021) Epidemiology, Evaluation and Management of Wilson Disease: Review Article. Journal of Pharmaceutical Research International. pp. 94-103. ISSN 2456-9119

[thumbnail of 33973-Article Text-61313-1-10-20211222.pdf] Text
33973-Article Text-61313-1-10-20211222.pdf - Published Version

Download (269kB)


Wilson disease (hepatolenticular degeneration) is a rare autosomal recessive ailment characterized by aberrant copper buildup in the body, with the brain, liver, and cornea being notably affected. Wilson illness is caused by a mutation in the ATP7B gene on chromosome 13, which regulates the protein transporter that excretes excess copper into the bile and out of the body. So far, over 500 mutations have been discovered. The most common treatment for WD is D-penicillamine (D-PCA). Patients with severe spasms, deformities, or dysphonia, as well as those who are allergic to D-PCA, should avoid it. Early Diagnosis is a key factor in saving patient’s live, and thus prober investigation should be done as soon as possible. Family screening is a must when a patient is diagnosed to role out any other patients in the family with the disease and because of the strong genetic factor impacting the disease. early detection is critical for initiating therapy in the early, asymptomatic stages of the disease, rather than when liver decompensation or extensive neurological irreversible harm has already occurred. In this circumstance, the optimum technique is to finish copper investigations in the index patient's first- and second-degree relatives. In the present article we’ll be discussing disease prevalence, etiology and more importantly diagnosis and management.

Item Type: Article
Subjects: Asian Repository > General Subject > Medical Science
0 Subject > Medical Science
Depositing User: Managing Editor
Date Deposited: 05 Jul 2022 04:11
Last Modified: 05 Jul 2022 04:11
URI: http://eprints.asianrepository.com/id/eprint/988

Actions (login required)

View Item
View Item