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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  


This  is  the  Kayser-­Fleischer  ring  formed  
from  the  body,  thus  causes  the  person’s  body  to   in  the  eye  of  the  patient  who  inherits  
this  disease.  The  bottom  right  corner  
store  too  much  copper.  It  is  inherited  through  the   shows  the  final  color  of  the  eye.  

abnormal   copies   of   the   ATP7B   genes,   one   from   each   parent.   Those   with   only   one  
abnormal  copy  also  carry  this  disease,  however  without  symptoms.  Actually,  a  small  
amount   of   copper   is   essential   for   our   body,   however   too   much   of   it   will   be   very  
harmful  and  poisonous.  This  excess  copper  then  build  up  in  the  organs:  brain,  liver,  
eyes,   and   kidneys,   and   it   will   damage   them.   Also,   neurological   problems   have   a  
potential  to  occur  and  over  time,  it  may  cause  death.  

  Luckily,   there   are   therapies   to   treat   this   disease.  Firstly,   they   should   reduce  
the   amount   of   copper   intake,   which   means   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  
copper  in  their  body  and  in  this  case,  science  is  notably  
used.   Nowadays,   through   research   in   science   doctors  
found   two   drugs:   D-­‐penicillamine   (Cuprimine)   and  
trientine   (Syprine)   to   help   the   removal   of   excess  
One  of  the  patient  that  carry  
this  disease.   copper.   These   two   drugs   help   to   release   the   excess  
http://www.nature.com/nrne copper  into  the  bloodstream,  which  is  then  filtered  by  
urol/journal/v2/n9/fig_tab/n
cpneuro0291_F3.html    
                                                                                                               
1  Copper  is  a  metallic  element,  which  is  a  necessary  nutrient  for  normal  growth  and  development.  An  average  diet  provides  
about  2mg  of  copper  per  day.  

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the  kidneys  and  excreted  as  urine.  However,  it  is  without  disadvantage.  People  using  
these  drugs  will  suffer  from  neurological  symptoms,  fever,  rash,  and  bone  marrows.  
Another   therapy   is   by   using   zinc2   as   in   zinc   acetate   (Galzin).   It   blocks   the   digestive  
system  tract’s  absorption  of  copper  from  the  food  and  it  doesn’t  have  any  side  effect  
at   all.   Thirdly,   they   should   treat   any   symptoms   and   damage   that   occur   to   them.  
Nevertheless,  this  treatment  is  only  pain  relieving  and  intended  to  maintain  copper  
balance  –  not  to  eliminate  the  disease.  Thus,  a  life-­‐long  commitment  is  needed.  

  This   therapy   without   doubt   will   have   a   massive   impact   to   the   society   –   the  
social   aspect.   It   will   definitely   lift   up   the   motivation   of   those   people   who   suffer   from  
this  disease  to  live  and  thus,  creating  a  better  and  joyful  society.  In  the  same  time,  it  
also   plays   a   significant   role   to   the   economical   aspect.   This   therapy,   as   you   see,   is  
quite   expensive   (it   costs   $77.50   for   100   tablets   of   D-­‐penicillamine3   and   $1025   for  
100  tablets  of  trientine4).  So,  not  all  people  can  afford  to  buy  these  drugs,  and  hence  
not  all  of  them  can  treat  his/her  disease.    

Christopher  W  /  9T    

                                                                                                               
2  Zinc  is  an  effective  anti-­‐copper  treatment.  Zinc  acts  by  stimulating  the  production  of  metallothionein  in  intestinal  cells.  This  
metallothionein  binds  to  the  copper  from  foods  and  from  gastrointestinal  track  secretions  and  therefore  prevents  its  
absorption  into  the  body.  
3  According  to  http://www.universaldrugstore.com/medications/Cuprimine/250mg    
 
4  According  to  
http://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  

 
 
 

 
 

 
 

 
   

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