Sábháilte in:
| Príomhchruthaitheoirí: | , , |
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| Formáid: | Recurso digital |
| Teanga: | |
| Foilsithe / Cruthaithe: |
Zenodo
2025
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| Rochtain ar líne: | https://doi.org/10.5281/zenodo.18094429 |
| Clibeanna: |
Cuir clib leis
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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Clár na nÁbhar:
- <p>Wilson disease (WD) is a rare autosomal recessive disorder of copper metabolism first described by Dr. Samuel Alexander Kinnier Wilson in 1912. It is caused by harmful mutations in the ATP7B gene on chromosome 13, which codes for an ATPase that transports copper and is in charge of biliary copper excretion and ceruloplasmin incorporation. Hepatic, neurological, and psychiatric symptoms result from systemic copper accumulation caused by the faulty ATP7B protein, which mostly occurs in the liver, brain, and cornea. Toxic copper buildup and oxidative tissue damage are caused by mutations in ATP7B that hinder copper integration into ceruloplasmin and its biliary excretion. Wilson illness affects about 1 in 30,000 people worldwide, and it is more common in countries with higher levels of consanguinity. Preventing irreversible hepatic and neurological damage requires early diagnosis and continuous treatment. For both first-line and second-line treatment of WD, trientine tetrahydrochloride (triethylenetetramine) has proven to be a safe and efficient copper-chelating agent. It works by limiting intestinal copper absorption and binding free copper ions to generate stable, water-soluble complexes that are mainly eliminated through urine. Trientine exhibits a better safety profile, more long-term tolerance, and less hypersensitivity events than D-penicillamine. WD was once a deadly genetic ailment, but because to developments in molecular diagnoses and pharmaceutical treatment, it is now a chronic illness that can be controlled. Because of its effectiveness, safety, and capacity to restore copper balance and stop progressive organ damage, trientine tetrahydrochloride continues to be a key component of treatment.</p>