Wilson

Disease
Jenna Benson
What is Wilson Disease?

Wilson Disease is a genetic disorder that causes an

excess of copper to build up in the bodys tissues.
This accumulation is caused the the livers failure to
filter the extra copper and discard it in the form of
bile.

The mineral tends to be stored in the liver, eyes,

and brain.
Signs & Symptoms

liver disease
jaundice, abdominal swelling, bruising
neurological/mental issues
problems with speaking, walking, and
everyday movements
behavioral and emotional changes
eye problems
restricted eye movements
 Kayser-Fleischer rings:
deposits of copper in the cornea

Kayser-Fleischer Ring around the Cornea. Google Sites,

www.apotheken-umschau.de/multimedia/19/153/102/98061811729.
jpg. Accessed 8 Apr. 2017.
How it Happens
autosomal recessive inheritance
two carrier parents:
Q q

unaffected (QQ): 25%

Q QQ Qq
carrier (Qq): 50%

affected (qq): 25% q Qq qq

mutation of chromosome 13s
ATP7B gene

Mansolas, Nicholaos. Karyotype of a Female. TODAY Is

MEDICINE, 6 Dec. 2014,
4.bp.blogspot.com/-R3zz0n02PCU/VIMf3a8_MbI/AAAAAAAAAME
/yEWcBACdMbc/s1600/KARYOTYPE.jpeg. Accessed 8 Apr. 2017.
Treatment
Wilson Disease cannot be prevented, but it can
be kept under control

nutritional liver
medication
changes transplant

chelating agent:

organs bloodstream kidneys

Research

improvements in molecular diagnostics

ability to test newborns for Wilson Disease
possible uses of hepatocyte transplantation,
gene therapy in the future
Works Cited
Learning About Wilson Disease. National Human Genome Research Institute (NHGRI),
www.genome.gov/27532725/learning-about-wilson-disease/#al-1. Accessed 6 Apr. 2017.

Wilson Disease - Genetics Home Reference. U.S. National Library of Medicine, National Institutes of Health, 4 Apr.
2017, ghr.nlm.nih.gov/condition/wilson-disease. Accessed 6 Apr. 2017.

Haldeman-Englert, Chad. Wilson Disease. University of Maryland Medical Center,

umm.edu/health/medical/ency/articles/wilsons-disease. Accessed 7 Apr. 2017.

Wilson Disease | NIDDK. National Institutes of Health, U.S. Department of Health and Human Services, July 2014,
www.niddk.nih.gov/health-information/liver-disease/wilson-disease. Accessed 7 Apr. 2017.

National Center for Biotechnology Information (US). Wilson's Disease. Genes and Disease [Internet]., U.S. National
Library of Medicine, 1 Jan. 1998, www.ncbi.nlm.nih.gov/books/NBK22248/. Accessed 7 Apr. 2017.

Demczak, Morgan. Wilson's Disease. PPHSAPBio - Wilson's Disease,

pphsapbio.wikispaces.com/Wilson%27s+Disease. Accessed 7 Apr. 2017.

Schilsky, M L. Wilson Disease: Current Status and the Future. Biochimie., U.S. National Library of Medicine, Oct.
2009, www.ncbi.nlm.nih.gov/pubmed/19647032. Accessed 9 Apr. 2017.