A review on copper, ceruloplasmin and wilson s disease
Publish Year: 1393
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:
JR_INTJMI-4-4_001
تاریخ نمایه سازی: 15 مهر 1398
Abstract:
Objective: Copper as an essential trace element plays a vital function in biochemical systems. Its reduction orraise under/above a certain limit results consistently in disturbed physiologically functions. Wilson s disease isan auto-somal recessive copper transport disorder and clinical manifestations in adults are presentation ofhepatic or neuropsychiatric symptoms. However, in children clinical symptoms may be absent that makes thediagnosis more difficult than in adults.Methods: Many different literatures on the subject matter from different database sources were reviewed andused .Results: Clinical diagnosis for Wilson s disease includes screening tests such as determination of serumceruloplasmin level in addition to the slit lamp examination for kayser Fieischer rings to decide on or declinefurther testing such as 24 hours urinary copper excretion and liver biopsy tests. Because starting an earlytreatment is the most effective plan to control the condition, screening is also recommended for people whohave relatives with this disorder . Furthermore, lifelong treatment by copper chelators or zinc is mandatory forpatients regardless of symptoms.Conclusion: Wilson s disease results from defective function of a copper transporting protein called P-typeATPase (ATP7B). Factors influencing its function may be genetic, nutritional or environmental. Earlydiagnosis of Wilson s disease is important not only to reduce or even prevent organ damage but also to ensurethat patients may start on proper treatment plan.
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Authors
Mehri Aliasgharpour
Ministry of Health & Medical Educations- Faculty Member at Reference Health Laboratory Research Center– Dept of Clinical Biochemistry Laboratory Tehran, Iran