wilson disease - chxris

8/8/2019 Wilson Disease - Chxris

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Wilson Disease

Wilson disease, also known as

hepatolenticular degeneration syndrome or

“copper storage disease” is a very uncommon

disease – affects only one for every 30 000

people. It is an inherited genetic disorder in

which extra copper1 is not excreted properly

fromthebody,thuscausestheperson’sbodyto

storetoomuchcopper.Itisinheritedthroughthe

abnormalcopiesoftheATP7Bgenes,onefromeachparent.Thosewithonlyone

abnormalcopyalsocarrythisdisease,howeverwithoutsymptoms.Actually,asmall

amount of copper is essential for ourbody, however toomuch of it will be very

harmfulandpoisonous.Thisexcesscopperthenbuildupintheorgans:brain,liver,

eyes, and kidneys, and it will damage them. Also, neurological problems have a

potentialtooccurandovertime,itmaycausedeath.

Luckily,therearetherapiestotreatthisdisease.Firstly,theyshouldreduce

the amount of copper intake, whichmeans that they mustn’t consume foods or

water with high copper concentration like liver,

shellfish, nuts, and even multivitamins that contain

copper. Secondly, they should remove the excess

copperintheirbodyandinthiscase,scienceisnotably

used.Nowadays,through research in science doctors

found two drugs: D-penicillamine (Cuprimine) and

trientine (Syprine) to help the removal of excess

copper. These two drugs help to release the excess

copperintothebloodstream,whichisthenfilteredby

1Copperisametallicelement,whichisanecessarynutrientfornormalgrowthanddevelopment.Anaveragedietprovides

about2mgofcopperperday.

ThisistheKayser-Fleischerringformed

intheeyeofthepatientwhoinherits

thisdisease.Thebottomrightcorner

showsthefinalcoloroftheeye.

Oneofthepatientthatcarry

thisdisease.

http://www.nature.com/nrne

urol/journal/v2/n9/fig_tab/n

cpneuro0291_F3.html



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thekidneysandexcretedasurine.However,itiswithoutdisadvantage.Peopleusing

thesedrugswillsufferfromneurologicalsymptoms,fever,rash,andbonemarrows.

Anothertherapyisbyusingzinc2 asinzincacetate(Galzin). Itblocksthedigestive

systemtract’sabsorptionofcopperfromthefoodanditdoesn’thaveanysideeffectat all. Thirdly, they should treat any symptoms and damage that occur to them.

Nevertheless,thistreatmentisonlypainrelievingandintendedtomaintaincopper

balance–nottoeliminatethedisease.Thus,alife-longcommitmentisneeded.

Thistherapywithoutdoubtwillhaveamassiveimpacttothesociety–the

socialaspect.Itwilldefinitelyliftupthemotivationofthosepeoplewhosufferfrom

thisdiseasetoliveandthus,creatingabetterandjoyfulsociety.Inthesametime,it

alsoplaysa significantrole tothe economical aspect. This therapy,asyou see, is

quiteexpensive (it costs$77.50 for 100tabletsofD-penicillamine3 and$1025 for

100tabletsoftrientine4).So,notallpeoplecanaffordtobuythesedrugs,andhence

notallofthemcantreathis/herdisease.

ChristopherW/9T

2Zincisaneffectiveanti-coppertreatment.Zincactsbystimulatingtheproductionofmetallothioneininintestinalcells.This

metallothioneinbindstothecopperfromfoodsandfromgastrointestinaltracksecretionsandthereforepreventsits

absorptionintothebody.

3Accordingtohttp://www.universaldrugstore.com/medications/Cuprimine/250mg

4Accordingtohttp://www.internationalpharmacy.com/en/products/details/093344?IPS=dd8076ac342a22f005ef83db45817cd



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Reference:

• http://www.genome.gov/27532725

• http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/

• www.digestive.niddk.nih.gov.

• www.eurowilson.org

• Frydman M. Genetic aspects of Wilson s disease. J Gas- troenterol

Hepatol 1990; 5: 483-90

• Yarze JC et al. Wilsonʼs disease: current status. Am J Med 1992; 92: 643-

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• Walshe JM. Treatment of Wilsonʼs disease with trientine (triethylene

tetramine) dichlo- ride. Lancet 1982; 1: 643-647

wilson disease - chxris

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