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7/27/2019 08 GENE Dr R. K. Gupta
1/15
GENE /08 (O)
Clinical study of children with
Wilsons disease
AUTHORS-
Dr R. K. Gupta MD, FIAP . Associate Professor, Pediatric Medicine
Dr Alok Goyal MD. Senior Resident, Pediatric medicine
Institute: SPMCHI, S.M.S Medical College,
JAIPUR. INDIA
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INTRODUCTION
Autosomal recessive inherited disorder of CopperExcretion
Accumulation of Copper in the Liver, Brain, Kidneys andCornea.
The gene for WD is located on the long arm ofchromosome 13( 13q14.3).
Gene encodes ATP7B, a copper-transporting P-typeATPase expressed primarily in liver.
More than 500 mutations identified. Incidence 1/50,000 to 1/100,000 births.(1/30,000 in
SEA).
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CLINICAL PRESENTATIONSFrom early childhood to adulthood
Hepatic- Acute hepatitis, chronic hepatitis, fulminant liver failure,
cirrhosis, PHT Neuropsychiatric-
Tremors, dysarthria, dystonia, chorea, incoordination,behavioural abnormalities, depression, mood changes.
Others- Hemolytic anemia ( coombs negative)
Fanconis syndrome
Rare: Renal failure, Arthritis, Infertility, Hypoparathyroidism
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DIAGNOSIS
Urinary copper - >100 ugm/day
Urinary copper (Post Penicillamine) - >500mcg/day
Serum ceruloplasmin -
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TREATMENT
Avoidance of copper containing foodmaterials
Demineralization of drinking water
Drugs- Penicillamine
Zinc
Trientine ( triethylene tetramine dihydrochloride)
Ammonium tetrathiomolybdate
Liver transplantation
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AIM & OBJECTIVES
To study the clinical presentation of children
with Wilson disease
To study biochemical features of Wilson
disease
To evaluate diagnostic value of different tests
in children with Wilson Disease
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A hospital based retrospective study
In children diagnosed as Wilson disease
among admissions during year 2008-2010.
At SPMCHI, S.M.S Medical college, Jaipur, a
tertiary care pediatric hospital.
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Average age at presentation- 7 year (3.5 year-9 year).
Male to female ratio was 3:7. Two cases (20%) had a positive family history
of Wilson disease. 90% had hepatic presentation, 30% had
neurological manifestations.
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Jaundice, hepatomegaly and ascites werecommon manifestations (>50%)
Hepatic encephalopathy-2 One child also had anemia,
thrombocytopenia with renal calculi. Two children had neurological manifestations
in addition to hepatic features.
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Kayser-Fleischer rings were seen in five casesonly.
Serum ceruloplasmin levels- low ( 100-500, >500-1000 and>1000 mcg/24 hrs in 1, 4, 5 cases respectively.
Serum copper was not done in any case.
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0%
50%
100%
FEMALE
MALE
YES
NO
NO
YES
Y
ES
NO
LOW
NORMAL
100-500
500-1000
>1000
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Liver function tests were deranged in allcases with hepatic involvement (9 cases).
Liver biopsy (done in 2 cases )-showedcirrhosis MRI brain (3 cases with neurological
presentation )- basal ganglia involvementseen in all.
Mutation analysis was not done in any case.
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CONCLUSION
WD more common in females.
Age at presentation >3.5 years.
In children hepatic manifestations arepredominant.
KF rings are absent in about 50% children.
Significant family history in some cases. S. ceruloplasmin and 24 hrs U. Copper ( Post
Penicillamine ) are most sensitive tests.
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Wilson disease should be
suspected in every case of
unexplained liver disease
(acute, chronic, and
fulminant) as if diagnosedearly, it is treatable.
No single test is
diagnostic, so clinical
assessment and a battery
of tests is needed for
diagnosis.
CONCLUSION
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THANKS
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