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Wilson's Disease Essay

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Wilson’s disease is a rare genetic disorder affecting about 1 in 30,000 people (Schilsky, 2014) in which excess copper accumulates in the body, notably the liver and the brain (Anon, undated). It is an autosomal recessive condition in which the ATP7B gene on chromosome 13 (EASL, 2012) is defective. There are around 500 known mutations that can cause this defectivity (Tidy, 2014). The ATP7B gene codes for a copper-transporting P-type ATPase usually found in hepatocytes (Huster, 2010) (Roberts & Schilsky, 2008) that excretes excess copper into bile (EASL, 2012) (Roberts & Schilsky, 2008). When this gene is defective, it causes copper to build up in the liver which can be transported in the bloodstream to other organs such as the brain…show more content…
Serum ceruloplasmin levels can be most accurately measured by assaying using the enzymatic route (Tidy, 2014). It can also be measured using antibody-dependant assays e.g. a radioimmunoassay. Such immunologic assays can be inaccurate, and give a higher concentration of ceruloplasmin because they cannot differentiate between apoceruloplasmin and holoceruloplasmin (EASL, 2012) (Roberts & Schilsky, 2008), 2 types of ceruloplasmin. A low serum ceruloplasmin level is not usually enough on its own to give a positive diagnosis for Wilson’s disease as there may be other causes such as autoimmune hepatitis (EASL, 2012). In many cases, Kayser-Fleischer rings can only be visible with a slit-lamp examination by an experienced observer (EASL, 2012) (Roberts & Schilsky, 2008) (Weiss, 2016). In many cases, however, other diagnostic techniques must be used. For example, 24-hour urinary copper excretion levels >1.6 µmol/24 h (or >0.64 µmol/24 h in children) can indicate Wilson’s disease (EASL, 2012). A liver biopsy core of at least 1-2 cm in length (to ensure measurement accuracy) may also be taken if non-invasive techniques are undiagnostic (EASL, 2012) (Roberts & Schilsky, 2008). Processing the sample and analysis using stains such
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