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Identification of common mutationscausing Wilson disease in Egyptian children

Thesis

Last updated: 06 Feb 2023

Subjects

-

Tags

Clinical & Chemical Pathology

Advisors

El-Mougi, Fattma , El-Qaraqssi, Hanaa , Mandour, Eiman A. , El-Eisawi, Riham

Authors

El-Sharqawi, Marwa Mahmoud Abdel-Aziz

Accessioned

2017-07-12 06:40:36

Available

2017-07-12 06:40:36

type

M.D. Thesis

Abstract

Wilson Disease is caused by excessive accumulation of copper in hepatic and extrahepatic tissues due to defective excretion of copper into bile. As a result, copper accumulates particularly in the liver, kidney, brain, and cornea. ATP7B gene is responsible for transport of copper into bile from hepatocytes and its incorporation into apoceruloplasmin to form ceruloplasmin. Wilson Disease is an autosomal recessive disorder, with high frequency in certain ethnic groups. Early diagnosis is mandatory to initiate early treatment so as to prevent morbidity and mortality. Clinical features are highly variable, so the diagnosis may be easily missed. This is especially critical since the disease is readily treatable by chelating agents such as penicillamine or trientine, or by oral zinc that blocks copper absorption.

Issued

1 Jan 2012

DOI

http://dx.doi.org/10.21473/iknito-space/35631

Details

Type

Thesis

Created At

28 Jan 2023