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-
54
• Walshe JM. Treatment of Wilsonʼs disease with trientine (triethylene
tetramine) dichlo- ride. Lancet 1982; 1: 643-647