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Significance in Making a Diagnosis - Neonatal Hyperinsulism - Assignment Example

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The paper "Significance in Making a Diagnosis - Neonatal Hyperinsulism" discusses that according to Grossman, (2002), Nifedipine, also called Adalat is a certain type of medicine that helps in the management of high blood pressure, angina, premature labor and Reynaud’s phenomenon.  …
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NEONATAL HYPERINSULISM By Name Course Instructor Institution Location Date 1) Review the laboratory investigations and explain their significance in making a diagnosis. Answer. Insulin is just a peptide hormone found in the body of animals. It is produced by pancreatic islets’ beta cells and some fish’s Brockmann body. It determines metabolism of fats, proteins and carbohydrates through glucose absorption into the liver and the cells of the skeletal muscles from the blood (Van, HW, Kloke, HJ and Koene, RA, 2001). Production of glucose in the liver is highly influenced by the insulin concentration in the blood. High concentration of insulin in the blood favors conversion of molecules in the blood to the cells. Low insulin concentration promotes widespread catabolism. When the concentration of glucagon is high in the blood, there is high secretion of insulin but when glucagon level is low, secretion of insulin ceases (Brown& Palmer, 2000). Levels of glucagon and insulin in the body are responsible for maintaining optimal level of glucose in the blood. Low concentration of insulin in the body leads to diabetes mellitus. Diabetes mellitus is characterized by body wasting and high levels of blood sugar. This is prevented by injecting insulin directly in the body (Michael 2007). Laboratory investigations showed that, AD had an insulin concentration of 37mu/l with a glucose level of 1.5mmol/l. AD’s glucose level was low and AD was likely to be affected by diabetes mellitus if the insulin and glucose level were not improved. Cortisol is a hormone found in the blood. Adrenal glands are responsible for secreting this hormone. Cortisol hormone affects the functioning of the pituitary glands. High concentration of the cortisol hormone in the body favors the release of the adrenocorticotropic hormone. Cortisol hormone helps in energy metabolism using glucose and fats. Laboratory test of the cortisol hormone was done to determine if there are problems associated with the pituitary or adrenal glands (Glaser and Per-mutt 2002). AD’s cortisol level was found to be high. This implied that the child’s adrenal and pituitary glands were in good conditions and hence low glucose concentration in the body was not as a result of pituitary or adrenal glands’ problem. T4 blood test helps in determining whether ones thyroid has some problems. It is used with TSH blood test since its abnormal results does not give enough answer to doctors on how to diagnose ones condition. Elevated T4 and TSH results means that you have some thyroid problems. (Glaser 2000). AD’s T4 and TSH results were within the normal range. Even though the child had less weight, T4 and TSH tests showed that the child had no thyroid problems. Ammonia and liver tests are carried out to determine whether low sugar concentration may be due to malfunctions of the liver. AD’s liver and ammonia was found to be normal. This meant that the level of glucose in the child’s blood was not caused by malfunction of the liver. Ketonuria is a situation in which the concentration of the ketone bodies in the urine is high (Glaser& Per-mutt, 2002). This indicates that there is excess production of the ketone bodies meaning that the body has an alternative source of energy. Test of ketonuria helps the doctors determine whether the person has diabetes mellitus. DNA test helps the doctors determine whether a child is homozygous for the condition being addressed. AD is found to be homozygous for the condition. This means that, the problem was genetic and possible steps should be taken in order to save the child (Mathew, Young and Abu-Sober 2001). 2) Explain how a mutation in the SUR1 gene can result in hyperinsulinaemia. Answer Hyperinsulinaemia occurs when the level of insulin in the blood relative to the level of the glucose is excess. It results from many metabolic conditions and diseases. Hyperinsulinaemia is a symptom of diabetes mellitus. Hyperinsulinaemia is linked with obesity, glucose intolerance, hypertension and dyslipidemia. The above conditions are also referred to as metabolic syndrome. Hyperinsulinaemia is a genetic disorder whereby there is dysregultion of secretion of insulin leading to hypoglycemia (Glaser& Per-mutt, 2002). The severity of this disorder changes from mild form to drug-resistant form. Mild form of this disorder can respond to treatment using drugs like, diazotize or with the use of hormones such as somatostatin while the drug-resistant form does not respond to drugs or hormones but it necessitates pancreas’ resection. Early diagnosis of this disorder helped to avoid brain’s irreversible damage as a result of prolonged hypoglycemia (Ryan, Delaney and Joyce 2007). AD’s insulin concentration was low hence it was necessary to introduce the hormone in the child’s body to avoid the results discussed above Hyperinsulinaemia has been associated closely with four different gene mutations which secret a channel of ATP sensitive potassium beta cells within the cell. The beta cells are very important in the body because of their major role, regulating secretion of the insulin hormone. The activity of this channel maintains the hyperpolarized or negative level of the potential of the resting membrane. High concentration of the extracellular glucose results to high metabolism of the beta cells leading to increase in the concentration of the intracellular ATP and decrease in intracellular ADP. These changes close the ATP channels depolarizing the membrane of the beta cells, activates the voltage gate of the calcium ions’ channels and exocytose insulin (Stanley 2004). ATP channel has two subunits of protein: sulfonylurea receptor or SUR1 and potassium channel inward rectifying subunit. SUR1’s gene mutations are the major cause of Hyperinsulinaemia. However, genetic mutations on the other subunit of the protein occur but do not cause Hyperinsulinaemia (Dunne 2000). Hyperinsulinaemia is diffuse and incorporates beta cells in the entire pancreas. The two sub units of the proteins are inherited recessively. However, a dominant form of Hyperinsulinaemia is caused by a certain type of mutation in the glucoknase gene, GK called gain-of-function. Furthermore, glutamate dehydrogenates gene mutations cause Hyperinsulinaemia with hyperammonemia (Glaser 2000). Mutations in the SUR1 affect the capability of the ATP channel to transport beta cells in the cell surface decreasing the function of the ATP channel. To avoid this, AD was treated using diazoxise or sulfonylurea. ATP channels are responsible for regulating the level of insulin. This occurs in the endoplasmic reticulum and it ensures that the correctly assembled ATP channels are only the ones to be transported across the surface of the cell (Dunne, 2000). A retention signal found in the endoplasmic reticulum is always present in the two types of the subunits of the proteins and it ensures that the two subunits do not exit the endoplasmic reticulum before the channels are correctly assembled (Doyle & Egan, 2003). When the correct assembly of the channels is completed, the retention signal then plays another important role of controlling the trafficking of the channel to plasma membrane and the Golgi apparatus. SUR1 mutations make one of the channels not to leave the endoplasmic reticulum for the Golgi apparatus or plasma membrane. To avoid this, AD was treated with hypoglycemic and sulfonylurea drugs which inhibit the production of potassium ions preventing the above defects of channel trafficking (Dunne 2000). Up to date, six different mutations in the genes occur among patients with infantile or neonatal hyperinsulinism. Most of the mutations described above are recessive. Some patients have either a single dominant or recessive mutations. Hyperinsulinaemia among some patients is in focal form since the beta cells are responsible for secretion of abnormal insulin (Michael 2007). These patients have their allele which is paternally inherited carrying recessive or single genetic mutations. Somatic mutation which occurs in the beta cells of the pancreas affects the chromosomes leading to imbalance in the genes. This leads to secretion of the beta cells which lack ATP channel regardless of its important role in the body (Thompson, AE and Pope, JE, 2005). AD had a single mutation which was paternally inherited; the frequency of the allele which is involved in mutation did not provide doctors with enough knowledge to be in a position to advise the AD’s parents. For patients with single mutation, there is always another mutation on the other allele. Allele which are maternally inherited are said to be normal (Michael 2007). 3) Explain the rationale behind the administration of the drugs Chlorothiazide, Diazoxide and Nifedipine. Answer According to Michael (2007), Chlorothiazide which is a pill is organic in nature and plays major roles in antihypertensive and diuretic conditions. It can be prescribed by the doctor for the case of hospital setting and can also be used personally without doctor’s prescription to avoid the excess fluid which is caused by congestive failure of the heart. It is used to avoid buildup of excess fluid in the body as a result of continued use of particular medicines or conditions. It helps the kidneys to eliminate excess fluid from the body though the kidney nephron. At four weeks old, AD was commenced on Chlorothiazide, 10mg/kg/day, to help increase the level of glucose in the body hence avoiding the problems discussed above. Diazoxide, according to Thompson and Pope (2005), is an ATP channel activator found in the cell and it controls the permeability of the membranes to ions such as potassium ions by causing local smooth membranes’ relaxation. This alters the voltage gates of the ions of calcium and prevents the influx of calcium across the plasma membrane and the Golgi apparatus. This agent, in many countries including USA, is given by doctors. According to Doyle and Egan, 2003, it is used to treat malignant hypertension and acute hypertension. The agent also influences insulin secretion in the pancreas and hence counters hypoglycemia in many diseases’ status like congenital hyperinsulinism and insulinoma. According to Randle, Baton and Jean, (2000), Diazoxide in cognitive enhancer is considered as a potential application since it modulates positive allosteric of kainite receptors and AMPA. Diazoxide affects the release of insulin due to its activities on the ATP channels. At the age of 4 weeks, AD was also commenced on Diazoxide, 15mg/kg/day. Together with Chlorothiazide, they helped the child boost its glucose level to 18.2 mg/kg/min to enable maintenance of the level of insulin and avoid hyperinsulinaemia. According to Grossman, (2002), Nifedipine, also called Adalat is a certain type of medicine which helps in management of high blood pressure, angina, premature labor and Reynaud’s phenomenon. It is a treatment of choice whose prescription is done by doctors. It can also be administrated by parents. According to Van, Kloke and Koene (2001), it plays a major role of improving the lungs of the baby and also improves the time required to transfer the pregnant woman to facilities that are well qualified before delivery. According to Brown and Palmer, 2000, the drug is taken orally and its release formulations come in both slow and fast frequencies. Its side effects are, swelling of legs, breath shortness, cough, headache, lightheadedness and feeling tired always (Ali & Qazi, 2007). Nifedipine is also used to cure esophagus’ painful spasms arising from cancer or tetanus. Finally, it is used to treat pulmonary hypertension among small people’s subsets. When used for long time it leads to a very low blood pressure which makes the patients feel dizzy and finally faint (Varon 2003). When Chlorothiazide and Diazoxide were commenced at four weeks after delivery, they did not solve the problem of Euglycaemia. Nifedipine was then induced to help curb the problem References Ali, MO and Qazi, QS, 2007, pulmonary edema, High-Altitude. Michigan: university of Michigan press. Brown, MJ and Palmer, CR, 2000,”Mobility and mortality in patients randomized to double blind treatment with a long acting calcium channel blocker or diuretic in the international Nifedipine GITS study”, a journal of intervention as a goal in Hypertension treatment. Lancet 357(7227):357-372 Doyle, ME and Egan, JM, 2003, “pharmacological agents that directly regulate insulin secretion.” A journal for Pharmacological Reviews. 55(1):105-131 Dunne, MJ and James, RF, 2000, “ions and genes in persistent hyperinsulinaemiac in infancy” journal for tailoring treatment to disease pathogenesis. 11(1): 121-130 Glaser, BG, 2000. Hyperinsulinism of the new bon. Semin prenatal journal.24:150-170 Glaser, GB and Per-mutt, MA, 2002. Neonatal Hyperinsulinism. Trends endocrinal metabolism. 10:555-71 Grossman, EG, 2000, “should a moratorium be placed on sublingual Nifedipine capsules given for hypertensive emergencies and psedoemergencies?” Oxford: oxford university press. Mathew, PM, Young, JM and Abu-Sober, YK, 2001. Persistent neonatal hyperinsulinism. Clinic pediatric 27:150-151 Michael, ER, 2007, “Thiamine diuretics: 50 years and beyond” journal for current hypertension reviews, volume 4(4):255-270 Randle, JC, Baton, CL and Jean, ML, 2000, Allosteric potentiating by Diazoxide of AMPA receptor currents and synaptic potentials. European journal for pharmacology. 247(3): 257-270 Ryan, FR, Delaney, DD and Joyce, CY, 2007. Hyperinsulinism: molecular etiology of focal disease. Arch Dis Child. 77:445-447 Stanley, CA, 2004. Hyperinsulinism in infants and children. Pediatric clinic: North America. (Pub med) Thompson, AE and Pope, JE, 2005, Calcium channel blockers for primary Reynaud’s phenomenon: A Meta analysis. Oxford; oxford university press Van, HW, Kloke, HJ and Koene, RA, 2001, “Oedema formation with the vasodilators Nifedipine and Diazoxide” Journal of Hypertension 14(3): 1041-5 Varon, JM, 2003, “the management of hypersensitive crises” a journal of clinical review. 7(5): 374-400 Read More
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