Serum and urinary copper level, diagnostic tool for Wilson’s disease

Stojanovska, Natalija and Velickova, Nevenka and Bilali, Sefedin and Mechevska-Jovchevska, Jasmina (2022) Serum and urinary copper level, diagnostic tool for Wilson’s disease. In: V simpozij ALISZP u BiH sa međunarodnim učešćem, 13-15 May 2022, Neum, BiH.

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Abstract

Introduction: Wilson's disease is an autosomal recessive trait in which copper metabolism is impaired due to its deposition in several organs of the central nervous system, liver, kidneys and cornea (greenish-brown ring pigment or Kayser-Fleischer ring). The cause of the disease is a mutation in the ATP7B gene, located on chromosome 13, which is responsible for the enzyme synthesis that ensures the transfer of copper from the liver to other organs in the body. Abstract objectives: The main objective of the abstract is to monitor the content of copper in 24h urine in patients with Wilson's disease, who are already registered and are treated at the Clinical Center "Mother Teresa" in Skopje. Material and methods: This is a retrospective study that includes diagnosed and treated patients with Wilson's disease in the period from 2020 to 2021 year. The laboratory examination of the copper content in 24 hour urine was performed at the PHI University Institute of Clinical Biochemistry in Skopje, at the Clinical Center "Mother Teresa" using atomic absorption with a PinAAcle 900F spectrometer. Results: Laboratory tests results of patients with Wilson's disease indicate low serum concentration of both copper and ceruloplasmin and increased copper content >100μg in 24h urine. Conclusion: Biochemical tests and early laboratory diagnostics for copper content in 24h urine is significantly important for monitoring and further treatment of patients with Wilson's disease, especially for preventing life-threatening situations and prolonging the life of this group of patients.

Item Type:	Conference or Workshop Item (Speech)
Subjects:	Medical and Health Sciences > Basic medicine Medical and Health Sciences > Clinical medicine
Divisions:	Faculty of Medical Science
Depositing User:	Nevenka Velickova
Date Deposited:	22 Aug 2022 09:16
Last Modified:	22 Aug 2022 09:16
URI:	https://eprints.ugd.edu.mk/id/eprint/30068

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