Over the course of this semester,
Wilson disease will become a personal focus. It’s origins, manifestations, epidemiology
and biological importance will be researched and analyzed. This introductory paper
will depict a perfunctory foundation to this information; he essential primary
information needed to conduct a thorough analysis throughout the semester. The goal
is to present a concise and accurate depiction of Wilson’s Disease.
Wilson disease is categorized
as a copper metabolism disease (Brandmann et al. 2015), first discovered and identified
in 1912 by Kinnier Wilson (Patil et al. 2013). Wilson disease is an autosomal recessive
disorder with focus on gene ATP7B (Brandmann et al. 2015; Patil et al. 2013).
The mutation in gene ATP7B causes copper toxicity which can result in chronic
liver disease (Patil et al. 2013). Although the disease is present at birth,
symptoms will not appear until later years because they are associated with the
accumulation of copper (Patil et al. 2013). This usually causes jaundice (yellowing
in the skin and eyes). Another distinct symptom of Wilson disease is the
Kayser-Fleischer ring. This is a physical discoloration on the eye of the patient
presenting in gold-greenish rings due to copper deposits. (Mayo Clinic, 2017;
Patil et al. 2013). Neurological symptoms can be seen in some patients, primary
manifested as tremors, difficulty with gait, and muscle stiffness, as well as
other symptoms similar to those found in Parkinson’s disease (Brandmann et al.
2015; Mayo Clinic, 2017).
The inheritance of Wilson
disease follows the autosomal recessive configuration (Brandmann et al. 2015; Patil
et al. 2013). This follows some criteria first of which is that most of those
affected by Wilson disease do not have parents that are also affected, but
rather the parents are usually carriers. This means that if both parents are
carriers, both parents are heterozygous carriers. Because it is a recessive
disorder, this means that an affected person has to be homozygous recessive. Conducting
a cross between the parents described above can show typical outcomes: there is
a one-fourth chance that the child will be a homozygous recessive, and
therefore, a person affected by Wilson disease. The pedigree shown below
exhibits how this autosomal recessive disease is inherited. (Stewart, 2018)