Global Advanced Research Journal of Medicine and Medical Sciences (GARJMMS) ISSN: 2315-5159
September 2014 Vol. 3(9), pp. 262-266
Copyright © 2014 Global Advanced Research Journals

 

Full Length Research Paper

Hepathopathy in children and young patients – Do you think of Wilson’s Disease (Hepatolenticular Degeneration)?

I. Buraga¹,²*, G. Mihailescu¹,², R.M. Anton²,  M. Buraga¹ and C. Baetu²

1University of Medicine and Pharmacy Carol Davila, Bucharest
2Colentina Clinical Hospital, Department of Neurology, Bucharest

*Corresponding Author E-mail: cris_baetu@yahoo.com, buragaioan@yahoo.com

Accepted 11 September, 2014

Abstract

The Hepatolenticular Degeneration (HLD) also known as Wilson’s Disease (WD) is a rare inborn systemic disorder of copper metabolism. It is an autosomal recessive transmitted disorder of copper transport due to mutations in the ATP7B gene located on the long arm (q) of the chromosome 13 (13q 14.3) which encodes a copper-transporting P-type ATPase (ATP7B) residing in the trans-Golgi network of hepatocytes affecting 1 in 30000-100000 people worldwide. (Merle et al., 2007; Roberts and Schilsky, 2008). This gene codes for a membrane-bound, P-type copper-transporting ATPase expressed primarily in the liver (Merle et al., 2007). Patients have to be homozygote who inherited two copies of the disease gene from mother and father. Those who inherit only one copy of the disease gene are heterozygotes – carriers. More than 500 mutations have been reported in different parts of the world, from which 380 have a confirmed role in the pathogenesis of the disease (Wilson disease mutation database). It is estimated, as no genetic screening was performed due to high costs, that 1 in 90-100 individuals is a carrier for WD. The ATP7B gene codes a membrane bound P-type copper transporting ATP-ase expressed primarily in the liver, responsible for the copper transportation from the hepatocytes, were it is stored, into the bile and for its binding to apoceruloplasmin in order to form ceruloplasmin, a 132kDa protein, a ferroxidase which transports 90% of the circulating copper in healthy people.

Keywords: Wilson disease, D-penicilamine, copper, Kayser-Fleischer

 

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