Hirschsprungs Disease and Subsequent Toxic Megacolon - Thesis Example

Running Head: HIRSCHSPRUNG’S DISEASE AND ENTEROCOLITIS Hirschsprung’s Disease (Congenital Megacolon) and Subsequent Toxic Megacolon (Enterocolitis) Robert University of Las Vegas, Nevada Abstract This paper on Hirschsprung’s Disease (Congenital Megacolon) and Subsequent Toxic Megacolon (Enterocolitis) discusses a three years old American female baby with congenital megacolon and enterocolitis. This paper extensively describes the pathophysiology of these diseases which could be both congenital and hereditary affecting mainly children and infants. The primary symptom in infants is not passing meconium, which is the infant's first bowel movement, within the first 24 to 48 hours of life. Other symptoms include constipation, abdomen swelling and vomiting. The theoretical foundations in nursing practice as well as the role of the advance practice nursing are also tackled. Hirschsprung's disease is diagnosed through anorectal manometry, barium enema, abdominal x-ray and rectal biopsy. Colostomy is said to be the most effective treatment for Hirschsprung's disease. Several interventions in the form of preventive management of further complications and the pharmacologic management of congenital megacolon) and subsequent toxic megacolon diseases are discussed. Other important issues and concerns are also touched such as the impact on healthcare with regards to financial impact and policy issues and the diversity and ethical issues involved. Introduction According to Neville and Cox (2006), Harold Hirschsprung explained the Hirschsprung’s Disease in 1886 as the cause of constipation in infants. These authors mentioned that early identification and surgical correction of this type of disease defends the inflicted baby from enterocolitis and debilitating constipation. In general, death as a result of this disease is about twenty to twenty-five per cent. The Hirschsprung’s Disease may result “from the deficiency of parasympathetic ganglion cells located in the rectum, specifically in the myenteric and submucosal plexus (Neville and Cox, 2006). On the 8th week of gestation, the ganglion cells arrive in the proximal colon. By the 12th week it reaches the rectum. As a result of the lack of the myenteric and submucosal plexus, this may lead to decreased bowel peristalsis and function. This paper aims to explain the pathophysiology of Hirschsprung’s disease therosclerosis and discuss prevention and management of Hirschpung’s disease and enterocolitis. The disease will also be explained in the context of the theoretical foundation of nursing practice and the conceptual role of the advance practice nurse will also be analyzed and integrated in the paper. Lastly, the impact of the disease on the healthcare system with regards to the policy and finance issues and ethics will be presented. History and Physical Examination The patient is a three years old American female baby who is treated at the emergency infant care section of the hospital. In the first six weeks of life, the baby do not have her first bowel movement by the time that she should have, and she throw up green liquid called bile after eating. This infant builds up intestinal diseases. It was observed that the baby has a failure of bowel movement in the first forty-eight hours of life of the baby with slow and progressing bulging of the stomach, starting of throwing up or nausea, fever constipation that turns worse after sometime, loss of appetite, delayed development, passing minute, diluted stool. There are tests done in order to reveal the presence of the Hirchsprung’s disease in the baby. The x-ray test was conducted in the stomach. This will help indicate the absence of stool in the large intestine or in the anus as well as enlarged sections of the large and small intestines. This x-ray to be conducted on the stomach will reflect the constricted areas, impediments as well as enlarged intestine above the impediment. The barium enema will determine the presence of abnormalities in the large intestine. In order to approximate the absent nerve impulses in this illness the anorectal manometry can also be facilitated. Biopsy is also conducted for the large intestine. This will diagnose the status of the nerve cells in sections taken from the anus or the large intestines with the employment of the microscope to better observe the samples under study. Other tests done on the baby are electrolyte and renal finding panel to detect dehydration in infants, CBC count to ensure preoperative hematocrit and platelet count that is suitable for surgery and coagulation studies to ensure that clotting disorders are corrected before surgery. The Illness According to Parker and Parker (2002) certain parts of the intestines lack nerve cells that would aid in the stool movement of infants. These nerve cells were developed in the infant’s intestine as early as the baby starts to develop inside the mother’s womb. So this is why Hirschsprung’s disease is developed even before a child is born or during the mother’s pregnancy. Neville and Cox (2006) also noted that this disease is not cause by anything the mother did during her pregnancy and even during the nursing period. The reasons for the failure of the development of nerve cells is still not scientifically known. Hirschsprung’s disease, which affects one in five thousand babies (Pobojewski, 2003), mostly involves the rectosigmoid region of the colon, but has the possibility of also affecting the entire colon and sometimes, but rarely, the small intestine. The illness is usually present in infants, although some patients show symptoms later in life. This illness is a rare disorder. The effect is obstruction of the bowel, thus, prevents normal bowel movements. It usually occurs as an isolated finding but can also be part of a syndrome (Badash, 2006). Pathophysiology Hirschprung's disease is a disease related to the intestines. Specifically, this disease is characterized by the loss of ganglion cells--nerve cells in the large intestine--in some parts of the large intestine, resulting in the non-movement of stool in the area without the nerve cells. This is much like the esophagus and the peristaltic movement, which is an involuntary movement. Take away the involuntary movement, and the food will more likely be stuck in our esophagus instead of the food going down. In the case of the large intestine, without such peristaltic action due to loss of ganglion cells, the stool gets lodged in one area, and as more stools are moved towards the end of the large intestine, the more the stool gets stuck, causing constipation. If unchecked and untreated, the patient may get an infection and/or die from chronic intestinal poisoning. This disease is considered to be a congenital one, even a prenatal one, since nerve cells differentiate during the stem cell differentiation stage. Non-formation of nerve cells in the intestines could have resulted from faulty cellular differentiation; the pathology of such an event is not completely clear, and genetic mutations could be implicated for the pathophysiology of this disease. Interventions Theoretical Foundation of Nursing Practice On the basis of determining the magnitude of the problem, the age, medical history and overall health of the baby, the baby’s reaction to specific medications, surgery or therapeutic procedures, expectations for the course of the disorder, the findings of the child’s doctors, and of course the parent’s opinion and preferences, treatment will be established. That part of the anus as well as the intestine that lacks normal nerve cells may be removed through colostomy. This procedure is performed to remove stool from the body. Preventive management Hirschsprung’s disease cannot be prevented, since it is mainly inherited. Actually, there are no specific guidelines for the prevention of the disease (Badash, 2006). However, heightened clinical understanding of the disease prevents a delay in diagnosis. Hirschsprung's disease is diagnosed through anorectal manometry, barium enema, abdominal x-ray and rectal biopsy. Due to the seriousness of the Hirschsprung Disease, it has to be given medical attention the soonest time possible. To treat the Hirschsprung Disease, ostomy is conducted. It is a type of pull-through surgery. This is necessary to remove stool in the body by cutting or removing a part of the intestine to enable the stool to come out. Pharmacologic Management In the past two decades, the pharmacological management of the Hirschsprung disease was not given sufficient attention. It was Belknap (2003) who suggests that the disease requires early diagnosis and surgical repair for the best comprehensive outcome. “The early diagnosis of this disorder permits the use of primary endorectal pull-through (PERPT), a surgical therapy for the illness”, points Belknap (2003). Other advocates of pharmacologic management, Murphy and Puri (2005) mentions that embryological development and migration of ganglion cell researches have enabled a greater understanding of the pathogenesis of the disease coupled with new techniques in surgery, such as laparoscopy-assisted pull-through and the transanal pull-through. These discoveries have significantly enhanced positive treatment results for infants inflicted with the Hirschsprung Disease. Impact on Health Care Financial Impact Infants with Hirschsprung’s disease with subsequent enterocolitis experience the burden of serious physiological disorder requiring hospitalization. This means high financial requirement in order for the disease to be cured. A lot of money is needed for the diagnostic tests, as well as for the treatment. Aside from that, there are also a lot of expenses during the healing process. Parents are definitely in dying need for financial assistance. Not everyone could afford those tests necessary for the diagnosis of the disease. Further expenses would eventually arise when they are curing the disease. Policy Issue The discovering of the genetic basis for Hirschsprung’s disease (Milla, 1998) and some varieties of chronic idiopathic intestinal pseudo-obstruction has also provided invaluable insights into the development of the enteric nervous system itself. This is the time when the genetic contributions to Irritable Bowel Syndrome and Gastroesophageal Reflux Disease are being dissected and techniques of molecular pharmacology are being applied to the management of IBS (Quigley, 2006). However, despite these advances in the understanding and treatment of the disease, infants who belong to the minority, ethnic group, low-income bracket, depressed socio-economic status and those who do not have medical insurance are more likely to have increased rate of hospitalization and the possibility of non-recovery. The patient referred to in this paper have complications which require intensive treatment geared towards adequate medical attention. Assistance should be given to this ill infant in order for this baby to receive primary care services as well as pharmacy services with minimal costs. Role of the Advance Practice Nurse The main Advance Practice Nursing (APN) competency required for the Hirschsprung disease with subsequent enterocolitis is the direct clinical practice. This is essentially characterized by the adaption of a holistic perspective, formation of partnerships with patients, expert clinical thinking and skillful performance, use of research evidence as a guide to practice and use of diverse approaches to health and illness management (Hamric, Spross & Hanson, 2005). There are four interacting factors concerning the Model of APN’s Expert Coaching and Guidance, namely, interpersonal competence, clinical competence and technical competence. The technical competence includes the APN’s education, clinical experience, knowledge and skills and license and certification. Coaching is usually done to help the patient face the illness. Coaching is also undertaken to improve effectiveness and efficiency and achieve cost and quality outcomes. Ethics Stem Cell Research According to Pobojewski (2003), the University of Michigan Researchers Toshihide Iwashita and Genevieve M. Kruger have distinguished malfunctioning stem cells as the key to the Hirschsprung’s disease. Based on the study conducted by these scientists, the “neural crest stem cells that give rise to nerves in the embryonic digestive system do not reach the lower part of the developing gut.” Iwashita and Kruger (2003) detected that mutations connected with the Hirschsprung's disease result to alterations in the proliferation, migration of neural crest cells and survival. Conclusion The extent of intestine removal to treat the Hirschsprung disease with subsequent enterocolitis will determine problems in the future. In the same manner, problems can occur depending on the amount of intestine that lacked nerve cells. The baby which undergo closure of the colostomy and her intestine is reconnected might show signs of temporary or irregular problems, such as the following: frequent loose vowel movement, wherein the urge to have a bowel movement is greater after eating, and because of tight anal opening the infant will experience difficulties in her bowel movement. During the diagnosis, the baby is examined. Certain tests are done to determine the occurrence or possibility of having the disease. This would include, barium enema, x-ray, anorectal manometry and biopsy. These tests would require a lot of money. But this would only be the beginning of their financial hardships if the disease is diagnosed. In most cases, operation is required or used to solve the problem. Then after that, the healing process would also be expensive. Therefore, parents of those children diagnosed with the disease would need a lot of financial help. Some of the symptoms that parents could look for include, abdominal distention; lethargy; and poor feeding. Other symptoms include watery diarrhea and foul-smell. If these symptoms are evident, parents are advised to consult their physicians immediately. References Badash, Michelle. 2006. Hirschsprung’s Disease (Congenital Megacolon; Colonic Aganglionosis). EBSCO Publishing. Belknap, William M. Hirschsprung Disease. Current Treatment Options in Gastroenterology. Current Medicine Group LLC, vol. 6, no. 3, June, 2003, pp. 247-256. Hirschsprung's Disease. 2006. Colon Cleansing & Constipation Resource Center. http://www.colon-cleanse-constipation.com/hirschsprungs-disease.html. Milla, P.J.: Endothelins, pseudo-obstruction and Hirschsprung’s disease. Gut 1998; 44: 148–152. Murphy, Feilim and Puri, Prem. New insights into the pathogenesis of Hirschsprung’s associated enterocolitis. Journal Pediatric Surgery International Publisher Springer Berlin / Heidelberg, vol. 21, no. 10, October, 2005, pp. 773-779 Neville, Holly L. and Cox, Charles S., Jr. 2006. Hirschsprung's Disease. WebMD. Parker, James N. and Parker, Philip M. 2002. The Official Parent’s Sourcebook on Hirschsprung's Disease. Pobojewski, Sally Disease. Stem cell defects are key to Hirschsprung’s disease, say U-M scientists. UMHS Press Release, August 14, 2003. Regents of the University of Michigan. Quigley, Eamonn M. Gastrointestinal Motility: An Academic and Research Perspective. Dig Dis 2006;24:218–220. Read More