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amanda wilsonsdisease glog

by NCCSAmandaS
Last updated 7 years ago

Discipline:
Science
Subject:
Life Science

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amanda wilsonsdisease glog

Symptoms*liver disease: fatigue, loss of appetite, swelling in abdomen, easy bruising, jaundice*nervous system/ mental health issues: clumsiness, trembling, difficulty walking,speech imparments,problems with school work, depression, anxiety, mood swings*eye and vision problems: Kayser-Fleischer rings (green-brown rings around iris of eye), difficulty moving eyes and looking up*low levels of red blood cells or white blood cells or platelets (clotting factors)*slow clotting of blood*abnormal posture of limbs (arms and legs)*uncontrollable movement*high levels of protein, amino acids and uric acid in urine*higher risk for arthritis and bone loss

Wilson'sDisease

OverviewWilson's disease is very rare; it affects about 1 in 30,000 people. It causes the body to store too much copper. While, copper is good for the body in small amounts, when there is too much it builds up in brain, eyes, and other organs. This can lead to organ damage and death.

Amanda Shuford

Citeshttp://www.genome.gov/27532725http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001789/http://geneticsf.labanca.net/?attachment_id=758http://en.wikipedia.org/wiki/Kayser%E2%80%93Fleischer_ringhttp://www.jeffslegacy.com/

(Kayser-Fleischer ring)

Inheritance*autosomal (not on X chromosome) recessive pattern*if both parents carry gene there is a 25% chance of an affected offspring.* (50% chance of normal offspring, 25% chance of a carrier offspring)

TreatmentFirst steps: -Take away extra copper in body-change diet to reduce or stop intake of copper -treat liver or nervous system damageDoctors use the drugs D-penicillamine and trientine to remove copper from organs and into the bloodstream where it will eventually leave the body by urine. Zinc is sometimes used to keep the digestive track from absorbing copper. Patients with Wilson's disease must be treated throughout their life.

Jeff Dirlam-died at age 25-had severe nuerlogical symptoms for nine months-couldn't eat, swallow, walk, talk or use his arms-last 3 months of life: his mouth was frozen open -mouth and throat had to be moistened with water

Genetic testing is a another way to diagnose wilson's disease. If close relations to the patient carry or suffer from Wilson's there is a higher possiblity that the patient could have the disease. This means doctors are able to diagnose patients early in life and start treatment as soon as possible.

after disease

before disease

DiagnosalDoctors preform physical exams to diagnose wilson's disease.They look for kayser-fleicher rings in they eyes, and problems in the nuerlogical system. A liver biopsy is usually done to determine the amount of damage inflicted on the liver. Lab tests are also preformed to measure the amount of copper in a patient's urine. After 24 hours the doctors examine the urine to see if the high amounts of copper affiliated with wilson's disease are present.


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