08 gene dr r. k. gupta

7/27/2019 08 GENE Dr R. K. Gupta

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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

08 gene dr r. k. gupta

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