الفهرس 
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Abstract
Neuropsychiatric symptoms due to Wilson disease may
include behavioral changes, depression, anxiety or tremors.
There is no totally reliable test for WD, but levels of
ceruloplasmin and copper in the blood, as well of the amount of
copper excreted in urine during a 24 hour period, are together
used to form an impression of the amount of copper in the
body. The gold standard or most ideal test, however, is a liver
biopsy.
More recently, molecular diagnostic studies have made it
feasible either to define patterns of polymorphisms of DNA
surrounding ATP7B which are useful for identification of firstdegree
relatives of newly diagnosed patients or to examine
directly for disease-specific ATP7B mutations on both alleles
of chromosome 13.
The approach to treatment included restriction of dietary
copper intake, lifelong medical therapy, or orthotopic liver
transplantation.
It runs an invariably fatal course if not adequately treated
by chelating agents.
Increased understanding, better diagnostic facilities
leading to earlier identification even in the pre-symptomatic
phase, obvious distinction from mimicking conditions,
therapeutic approaches owing to effective cure, and an on the
whole reduction in the morbidity and mortality are some of the
anticipated changes in the future.
In our study, we aimed to evaluate the clinical,
biochemical, serological features and outcome of Wilson
disease in Egyptian children and to evaluate the predictive
factors for treatment response.
This study was conducted on 25 children with Wilson
disease from the Hepatology clinic, Children’s hospital, Ain
Shams University.
It is a retrospective study through revising their
registered data in the files over the last 20 years.
In the present study we found that the mean age of
presentation was an 6.6±1.55 year (ranged 3–12 years).
In the present study we found that 16 of our patients
(64%) were male while 9 patients were females (36%) with
predominance of males.
In the present study 7 of the studied patients (28%) have
positive family history of WD.
In the present study 28% of patients presented with
Acute liver affection, 36% presented with hepatocellular
failure, 8% presented with neurological symptoms and 28% of
patients diagnosed on screening of family members of WD
patients
In the present study we observed various manifestations
related to liver failure as part of ESLD or FHF. Hepatomegaly
was the most common (64%) followed by Jaundice (60%),
ascites (44%), spleenomegaly (40%) and hepatic
encephalopathy (8%).
In the present study we observed neurologic
manifestations in the form of tremors in (8%) of the studied
patients and psychiatric manifestations in the form of
depression and anxiety in (4%) of patients and also MRI of
these patients shows abnormal signal in both caudate &
lentiform nuclei (copper deposition in B.G).
In the present study 21/25 (84%) of the studied patients
are positive for Kayser–Fleischer rings (KF rings).
In the present study most patients with hepatic
presentation shows impaired Liver biochemical profile where
there was (72%) of the studied patients had high Total bilirubin,
(76%) had high AST, (68%) had high ALT, (52%) had low
Albumin.
In the present study, low serum ceruloplasmin was found
in (96%), elevated 24 Hrs. Copper in urine ( > 100 μg/24 hrs)
was found in (92%) and Penicillamine challenge test (> 1600
μg/24 hrs) in (84%) of the studied patients.
In our study we found (24%) of the studied patients had
cirrhotic liver (METAVIR score) and (20%) had marked
inflammation (hepatitis).