WILSON’S DISEASE
A disturbance of copper metabolism causes hepatolenticular degeneration (Wilson’s disease), an autosomal recessive disorder whose genetic locus lies on the long arm of chromosome 13. The concentration of the copper transport protein ceruloplasmin is abnormally low and, as a result, the serum free co...
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Amaltea Medical Publishing House
2011-09-01
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doaj-32ff808d01cf46bfa35811eaa8ae5dae2020-11-25T01:47:55ZengAmaltea Medical Publishing HouseRomanian Journal of Neurology1843-81482069-60942011-09-0110314815310.37897/RJN.2011.3.8WILSON’S DISEASEA. Hancu0 C. Mihai1D. Zguma2A. Docu Axelerad3E. Dumitru4M. Kaivanifard5Neurology Department, “Ovidius” University, Constanta, RomaniaNeurology Department, “Ovidius” University, Constanta, RomaniaNeurology Department, “Ovidius” University, Constanta, RomaniaNeurology Department, “Ovidius” University, Constanta, RomaniaNeurology Department, “Ovidius” University, Constanta, RomaniaNeurology Department, “Ovidius” University, Constanta, RomaniaA disturbance of copper metabolism causes hepatolenticular degeneration (Wilson’s disease), an autosomal recessive disorder whose genetic locus lies on the long arm of chromosome 13. The concentration of the copper transport protein ceruloplasmin is abnormally low and, as a result, the serum free copper concentration is high and an abnormally large amount of copper is eliminated in the urine. Free copper is deposited in the liver, the edge of the cornea, the brain. We present a case who debuted by tremors and thrombocytopenia. Continuous therapy with Trientine hydrochloride and Mega zinc, and elimination of copper rich foods were improved cognitive, behavioral and motor dysfunctions.https://revistemedicale.amaltea.ro/Romanian_Journal_of_NEUROLOGY/Revista_Romana_de_NEUROLOGIE-2011-Nr.3/RJN_2011_3_Art-08.pdfwilson’s disease (wd)treatmentglobal assessment scale for wd (gas for wd) |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
A. Hancu C. Mihai D. Zguma A. Docu Axelerad E. Dumitru M. Kaivanifard |
spellingShingle |
A. Hancu C. Mihai D. Zguma A. Docu Axelerad E. Dumitru M. Kaivanifard WILSON’S DISEASE Romanian Journal of Neurology wilson’s disease (wd) treatment global assessment scale for wd (gas for wd) |
author_facet |
A. Hancu C. Mihai D. Zguma A. Docu Axelerad E. Dumitru M. Kaivanifard |
author_sort |
A. Hancu |
title |
WILSON’S DISEASE |
title_short |
WILSON’S DISEASE |
title_full |
WILSON’S DISEASE |
title_fullStr |
WILSON’S DISEASE |
title_full_unstemmed |
WILSON’S DISEASE |
title_sort |
wilson’s disease |
publisher |
Amaltea Medical Publishing House |
series |
Romanian Journal of Neurology |
issn |
1843-8148 2069-6094 |
publishDate |
2011-09-01 |
description |
A disturbance of copper metabolism causes hepatolenticular degeneration (Wilson’s disease), an autosomal recessive disorder whose genetic locus lies on the long arm of chromosome 13. The concentration of the copper transport protein ceruloplasmin is abnormally low and, as a result, the serum free copper concentration is high and an abnormally large amount of copper is eliminated in the urine. Free copper is deposited in the liver, the edge of the cornea, the brain. We present a case who debuted by tremors and thrombocytopenia. Continuous therapy with
Trientine hydrochloride and Mega zinc, and elimination of copper rich foods were improved cognitive, behavioral and motor dysfunctions. |
topic |
wilson’s disease (wd) treatment global assessment scale for wd (gas for wd) |
url |
https://revistemedicale.amaltea.ro/Romanian_Journal_of_NEUROLOGY/Revista_Romana_de_NEUROLOGIE-2011-Nr.3/RJN_2011_3_Art-08.pdf |
work_keys_str_mv |
AT ahancu wilsonsdisease AT cmihai wilsonsdisease AT dzguma wilsonsdisease AT adocuaxelerad wilsonsdisease AT edumitru wilsonsdisease AT mkaivanifard wilsonsdisease |
_version_ |
1725013930230677504 |