الفهرس 
IntroductionOnly 14 pages are availabe for public view
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Abstract
Wilson disease (WD) is an autosomal recessive disorder of copper transport characterized by decreased hepatobiliary copper excretion and reduced copper incorporation into ceruloplasmin ATP7B, the gene mutated in WD, consists of 21 exons and encodes a 1,465 amino acid protein representing a copper transporting P-type adenosine triphosphatase (ATPase). Since biochemical markers of impaired copper metabolism can be misleading, diagnosis may be difficult in the absence of typical symptoms and in asymptomatic siblings as WD is a lethal condition in the absence of adequate treatment. The aim of this study was to evaluate His1069Gln mutation in exon 14 of ATP7B gene in Egyptian children with Wilson’s disease as a useful tool used in genetic counseling as identifying WD at a presymptomatic or early clinical stage has beneficial implications for the outcome of patients. With this condition DNA testing may be effective in identifying siblings of affected probands at presymptomatic or early symptomatic stage. This study was conducted on 20 index cases with Wilson’s disease presented to pediatric Hepatology Department, National Liver Institute, Menoufiya University in the period from June 2008 to April 2011 and their siblings (n=27). In addition to 47 unrelated apparently healthy subjects matching age and gender served as control group Members in the study were grouped as following: Group I: included twenty index cases with Wilson’s disease they were 14 males and 6 females. Patients were from 17 unrelated families. Their ages ranged from 7 – 17 years. • Initial diagnosis of Wilson diseases was made if the patient had hepatic and/ or neurologic disease in addition to at least two of the following six criteria 1-Positive family history of WD. 2-Low ceruloplasmin level < 20 mg/dl. 3-Presence of kayser- Fleisher ring. 4-Liver biopsy suggestive of WD. 5-Elevated baseline 24 hrs urinary copper excretion more than 100 g/24 hours or more than 1600 g/24 hours after D-PCA challenge test 6-Coomb’s negative hemolytic anemia. Group II: included twenty seven individuals who are brothers and sisters of all patients diagnosed with Wilson’s disease. Their ages ranged from 7 – 22 years. They were 17 males and 10 females. Group III: included forty seven apparently healthy subjects matching age and gender served as a control group. Their ages ranged from 6- 26 years. They were 32 males and 15 females. All groups were subjected to the followings: • Full history taking • Complete physical examination. • Liver function tests: serum transaminases: aspartate transaminase (AST) and alanine transaminase (ALT), gamma glutamyl.