Anti-copper Therapy among Pregnant Women Can Lower the Risk of Wilsons Disease in Their Children - Admission/Application Essay Example

Anti-copper Therapy among Pregnant Women Can Lower the Risk of Wilson’s Disease in Their Children A Hypothesis Since the unborn children are vulnerable to their mother’s health condition, the medical intervention using anti-copper therapy, especially to expectant women, can reduce the probability and risk of transmitting Wilson disease to the foetus. Introduction Despite the rare cases of Wilson disease, there are quite a substantial number of children being diagnosed with the infections. This autosomal disease is really recessive and it is a consequence of copper toxicity, basically affecting the liver and brain. As a result of ATP7B gene mutations, it creates substantial effects on the biliary excretory pathway of copper (Cox et al. 281). In addition, it creates abnormal metabolism of the available copper that subsequently release a toxic substance called “free copper” (Brewer 42). This is the major cause of the disease. In essence, the accumulation of this harmful substance in the human’s neurologic system, especially in expectant women could result in Wilson disease, which may have subsequently effects on the unborn child (Grubenbecher et al. 549). In fact, when there is excess copper in the body due to the failure in the biliary excretion system, the harmful substance accumulates till it becomes toxic (Cox 283). In developed countries, the patients experience this toxic stage at around the second or, probably, their third decade. Indeed, this is the time when the patients may be diagnosed with neurologic or liver disease (Grubenbecher et al. 549). The disease mainly affects children, but the affected woman could transmit it to the unborn child if she does not exercise adequate care during pregnancy. It manifests in the form of dysarthria, parkinsonism, tremor, and dystonia (Forbes and Cox 1927). In this research, the impacts of anti-copper therapy especially among expectant women are examined. The research also examines if such therapy can reduce the risk of transmitting Wilson disease to their unborn children (Gromadzka et al. 245). Immediately the patient notices the symptoms, including depression, lack of focus especially on tasks, low emotional control, bizarre behavior, and low inhibitions, he/she should seek urgent medical intervention. Some of the measures, which the health expert would take, include performing a screening test, Kayser-Fleischer ring assessment, and ceruloplasmin plus serum copper assays (Hellman and Gitlin 439). The diagnostic test relies on liver biopsy using quantitative copper assay. Scholars have argued that mutation analysis might not be useful in countering Wilson disease because the alterations could result from a wide number of issues such as pollution, chronic diseases among others (Cox et al. 284). Immediately the pregnant woman is diagnosed with the symptoms of such disease, the siblings might be genotyped through making a comparison of their haplotypes in order to determine the possible medication. The best way to intervene is through using the anti-copper therapy to reduce the effects (Forbes and Cox 1927). Anti-Copper Therapy This medical intervention has been used for a very long time in preventing the unborn children from being affected by Wilson’s disease (Walshe 142). Many medical practitioners advocate for the proper use of anti-copper therapy even to the people who already have the risk of copper accumulation in the body (Cox 285). Since the unborn child is vulnerable, it is the responsibility of the pregnant woman to report any signs and symptoms of the disease and seek immediate treatment before it spreads to the whole body (Forbes and Cox 1928). One of the most effective measures of administering anti-copper therapy is the use of drugs. Anti-Copper Drugs The widely used anti-copper drugs include penicillamine, Trientine, zinc, and Tetrathiomolybdate (TM) (Walshe 143). Though they all have side effects, Trientine, zinc and Tetrathiomolybdate (TM) are more effective than penicillamine because the latter is mainly used as the last resort. Importantly, early recognition of the disorder could make the medical intervention successful (Brewer 47). Penicillamine This is one of the anti-copper drugs, which have been used in treating Wilson disease. Physicians understand the drug and often administer it to the pregnant women with the symptoms of the disease (Cox 286). Despite its toxicity and ability to worsen the neurologic system of the human being, it has proven to be effective in mobilizing copper, gradually from hepatic organs and stores so that the body could excrete it through urination (Forbes and Cox 129). This is a critical function of the drug, thus making it one of the most effective drugs used in reducing the amount of copper in the body and limits the chances of transmitting Wilson’s disease from mother to child (Mufti et al. 776). Through this treatment, the available pool of copper reduces significantly till its harmful effects are eliminated from the body. However, if the consumption is not checked, the patient risks renewed toxication (EuroWilson 2). This means that as the patient progresses with treatment, the amount of urine copper should be constantly monitored using non-ceruloplasmin plasma copper (Hellman and Gitlin 441). Due to the side effects of this drug, it should never be the initial treatment if the patient notices neurologic symptoms (Grubenbecher et al. 550). Trientine This was an alternative and safe treatment to the patients suffering from Wilson disease. Essentially, it was intended for the people whose body could not tolerate penicillamine (Gromadzka et al. 246). In terms of its function, food intake precautions and dose, it is equally a chelator and reduces the amount of copper in a similar manner as in penicillamine, though in a simpler manner. This makes the body of most patients to respond to it better than the penicillamine (Brewer 59). Notably, there is lower quantity of urine copper, which gently reduces to insignificant levels. This makes it more effective in treating Wilson diseases in pregnant women if the patient can observe the strict rules of the therapy (Forbes and Cox 1929). In reality, compliance with the recommended therapy and close monitoring of the copper status are the most important practices that the patients should observe during treatment. Similarly, the most effectively monitoring tool is used non-ceruloplasmin plasma copper (Gromadzka et al. 247). Though it also has some side effects, their frequency and impact are minimal. In addition, the neurological worsening especially in the patients using trientine for the first time is less severe as in penicillamine making it work for many people (Cox et al. 286). Zinc For the patients suffering from Wilson disease, the use of zinc is very vital as the maintenance therapy. Zinc induces metallothionein in the patient’s intestinal cell, making it difficult for the body to absorb copper (Hellman and Gitlin 445). In this regard, the concentration of copper in the patient body is lowered. Many medical professionals and practitioners have preferred the use of zinc for keeping Wilson disease away from pregnant women, provided that the patient is ready to adhere to the dosage (Brewer 71). Here, the compliance with the recommended therapy and adequate monitoring of the copper status are the most essential behavior that the patients should observe while undergoing zinc treatment. Under this intervention using zinc, the urinary secretion of harmful copper is almost similar to the normal body loading system (Gromadzka et al. 248). Here, the available copper is loaded off the body system without necessarily responding to the therapy and action of conventional drugs. As a maintenance therapy, using zinc should be consistent according the physician’s prescription so that it does not cause concerns or complications (Hellman and Gitlin 449). Basically, there would not be medication change, but it calls for compliance from the patient. Tetrathiomolybdate (TM) This is another intervention mechanism that helps in elimination of copper out of the body. In this case, TM forms a complex, usually a tripartite of copper, protein and itself (Mufti et al. 778). In this case, the TM complex that is formed cannot be absorbed easily, meaning that the copper traces might not find their way into the person’s body system (Mufti et al. 780). The complex is then excreted leaving the body free of copper. As well, when the human blood system absorbs the TM, it mixes with albumin and copper to form another complex (Forbes and Cox 1930). Therefore, the cellular system can no longer absorb this copper due to its new molecular state with other components. It is able to attract copper from the pool of hepatic metallothionein, thus able to lower the prescribed dose. As a result, it titrates and reduces the presence of toxic copper that complicates Wilson disease (Brewer 84). Notably, TM can also be used to treat Wilson disease in its initial state for the patients presenting neurological complications (Gromadzka et al. 248). This is the first and immediate medical intervention owing to it being considered as safer than the other modes of treatment. Probably, it is one of the preferred ways of treating Wilson disease in pregnant women. Though very gentle to the body, it has side effects, which necessitate lowering the quantity that the patients should get. To this level, it becomes clear that administering anti-copper therapy to the expectant women is capable of reducing the risk of passing Wilson disease to the unborn children (EuroWilson 5). This is because the therapy involves the use of drugs which are capable of absorbing traces of copper from the neurological and bloodstream system (Grubenbecher et al. 551). Basically, this cleans the system of any accumulation of toxic copper, which are responsible for increasing the vulnerability of pregnant women to Wilson disease and reduce of transmission of the ailment to unborn children. Furthermore, the effectiveness of anti-copper therapy depends on the management of its drugs (Forbes and Cox 1931). Ideally, the success in preventing or eliminating Wilson disease depends on the management of the entire therapy. For example, for patients suffering from transaminase elevations, and/or cirrhosis, they might experience low albumin, prolonged prothrombin period and elevated bilirubin (Hellman and Gitlin 453). In such cases, the patient should be treated using trientine or/and zinc. For the patients without proper evidence related to hepatic decomposition, the physician must carry out triage to determine whether the patient might survive on anti-copper therapy (Brewer 97). Sometimes, it is through transplantation of the hepatic system or the liver that could make the patient survive. The likelihood of the patients surviving on either of the therapies is determined by his/her response to the medication (Mufti et al. 781). Notably, ailments related to the liver have various complications to the body. For example, Wilson disease is responsible to liver failure in children and adults. Apparently, using anti-copper therapy in expecting women can reduce the probability of passing the disease to the unborn children (EuroWilson 6). This is the reason that justifies the recommendations of trientine or/and zinc for treating hepatic failure. However, the drugs have to be given separately and should be mixed with food, probably an hour before of after. Since trientine is less toxic compared to penicillamine, it is the preferred anti-copper for managing Wilson disease (Forbes and Cox 1932). Zinc in this case is preferred because it induces hepatic metallothionein (Mufti et al. 782). As an inducer, it binds toxic copper that might be present in the hepatic gland such as the liver. This makes the combination more effective in reducing the chances of transmitting Wilson disease from mother to child (Mufti et al. 784). Apparently, the intervention can be successful if the patient follows the proper procedures as the physician directs without failure. For the best results, the patient should use this combination till all tests on the liver functions are improved to the better. Significantly, the maintenance therapy has to be started through administering a single dose, preferably zinc. Evidence from research shows that in the course of maintenance therapy, administering two or more anti-copper drugs might not work to the advantage of the patient (Mufti et al. 785). Indeed, taking several drugs can expose the patient to challenges such as non-compliance to the dose as directed by the medical practitioner, vulnerability to develop a condition of copper deficiency and drug toxicity (Brewer 104). This might expose the patient to more dangers than treating the condition. Moreover, the condition can be extremely worse in pregnant women because the toxicity affects the unborn baby. Critically, it is important to support the medical position that the patients who are pregnant should use anti-copper therapy (Schilsky and Fink 216). Particularly, this is intended to protect not only the patient’s health, but also the health of the unborn baby. However, penicillamine can only be used by the expectant women when there is no alternative because its effects could lead death of the unborn (Forbes and Cox 1933). Zinc has proved to be very useful and the recommended choice of anti-copper for protecting the unborn baby from Wilson disease (Schilsky and Fink 217). Therefore, the physicians encourage the pregnant women to use zinc in reducing the amount of copper in their neurological system in a mild way that would not affect the unborn child (Grubenbecher et al. 551). Trientine can also be very effective in treating copper toxicity, while protecting the expectant mother’s and her unborn child’s life. To emphasize on the need to protect the children from being affected, consider the figure below; Fig 1: How the disease could be passed from parents to children Source: EuroWilson, p. 7 Explanation Even though the father could be a carrier of the disease, the child would get affected if the mother did not exercise maximum control during pregnancy. Early and proper medical intervention of the expectant woman would keep the child safe from the disease. However, during pregnancy, observing and solving copper deficiency in the body is very imperative because this condition is teratogenic. Apparently, this anti-copper therapy has to be administered in a non-aggressive manner to protect the fetus from copper deficiency, which could also expose the child to health risks (Schilsky and Fink 220). Conclusion In summary, it is evidenced that early and proper medical intervention in using anti-copper therapy, specifically to expectant women can reduce the probability and risk of transmitting Wilson disease to the unborn child. Therefore, the expectant women have to play active roles in making sure that their unborn children are not exposed to the risk. This is achieved through adequate medication to get rid of excess copper, taking caution not to experience its deficit as that is also a dangerous health situation. Works Cited Brewer, George. Wilson’s Disease: A Clinician’s Guide to Recognition, Diagnosis, and Management. Boston: Kluwer Academic Publishers, 2001. Print. Cox, Diane., et al. “Twenty-Four Novel Mutations in Wilson Disease Patients of Predominantly European Ancestry.” Journal of Human Mutation 26 (2005): 280–286. Print. EuroWilson. Wilson’s Disease for Patients and Families. Web. 06 March, 2012. Forbes, John, and Diane Cox. “Copper-Dependent Trafficking Of Wilson Disease Mutant ATP7B Proteins.” Hum Mol Genet 9 (2000): 1927–1935. Gromadzka, Graznya., et al. “p.H1069Q Mutation in ATP7B and Biochemical Parameters of Copper Metabolism and Clinical Manifestation of Wilson’s Disease.” Journal of Movement Disorder 21 (2006): 245–248. Print. Grubenbecher, Stephaniea., et al. “Prion Protein Gene Codon 129 Modulates Clinical Course of Neurological Wilson Disease.” Neuroreport 17 (2006): 549–552. Print. Hellman, Nathan, and Jonathan Gitlin. “Ceruloplasmin Metabolism and Function.” Annu Rev Nutr 22 (2002): 439–458. Print. Mufti, Arjmand., et al. “XIAP is a Copper Binding Protein Deregulated in Wilson’s Disease and Other Copper Toxicosis Disorders.” Mol Cell 21 (2006): 775–785. Print. Schilsky, Michael, and Scott Fink. “Inherited Metabolic Liver Disease.” Curr Opin Gastroenterol 22 (2006): 215–222. Print. Walshe, John. “History of Wilson’s Disease.” Journal of Movement Disorder 21 (2006): 142–147. Print. Read More