Exam (elaborations) NR 507 PATHOPHYSIOLOGY WEEK 5 TD2 Alterations In Endocrine Function Discussion Part Two

Exam (elaborations) NR 507 PATHOPHYSIOLOGY WEEK 5 TD2 Alterations In Endocrine Function Discussion Part Two Discussion Discussion Part Two (graded) • Is there any genetic component to the top of your differential? • What tests would you order? Responses Lorna Durfee 5/29/2016 7:51:34 PM Discussion Part Two A three-month-old baby boy comes into your clinic with the main complaint that he frequently vomits after eating. He often has a swollen upper belly (distention) after feeding and acts fussy all the time. The vomiting has become more frequent this past week, and he is beginning to lose weight. What is your differential diagnosis at this time? Is there any genetic component to the top of your differential? What tests would you order? Doctor Brown and Class: My differential diagnosis is: Pyloric Stenosis McCance, Huether, Brashers, and Rote (2014) explain that pyloric stenosis is an obstruction of the pyloric sphincter that is caused by hypertrophy. It is a common disorder that can affect infants of either one to two weeks or three to four months. The incidence for males is approximately 5 in 1000. Whites are usually affected more as are full term infants versus premature infants. The cause of this condition is not known, however, gastrin secretion by the mother in the final trimester in pregnancy can raise the likelihood of pyloric stenosis. The cause of the overproduction of gastric secretions could be by stress that affects the mother. External administration of prostaglandin E is associated with increased incidence of pyloric stenosis (McCance et al., 2014, p. 1488). There appears to be a genetic connection as there is an increased incidence of pyloric stenosis in children who have a family member that has the problem (McCance et al., 2014, p. 1488, 1489). Is there a genetic component? Olive and Endom (2016) state that there was an examination of familial aggregation of pyloric stenosis in a registry from Denmark. The result was significant familial aggregation with a 200- fold higher rate among dizygotic twins or siblings. The heritability estimate was 87 percent. The results were similar with maternal and paternal contributions, and the conclusion was that intrauterine environment was not important. The authors relate that the etiology of pyloric stenosis is obscure but apparently is multifactorial. There may be a genetic predisposition and environmental factors. Neonatal hypergastrinemia and gastric hyperacidity may contribute (Olive and Edom, 2016). There appears to be a genetic connection as there is an increased incidence of pyloric stenosis in children who have a family member that has the problem (McCance et al., 2014, p. 1488, 1489). What test to be ordered? Dias et al. (2012) relate that ultrasound examination is the best modality of choice for diagnosis of hypertrophic pyloric stenosis. Pyloric stenosis shows a thickening of the muscular layer and failure of the pyloric canal to relax causing gastric outlet obstruction. Ultrasound is less invasive and can allow for direct observation of the pyloric canal (Dias et. al, 2012, p. 247). Physical examination will provide a chance to observe gastric peristalsis. There will be a firm, small, and movable mass the size of an olive in the upper right quadrant (McCance, Huether, Brashers, & Rote, 2014, p. 1489). We should check electrolytes due to severe fluid and electrolyte imbalances. Also, we need to investigate for chronic malnutrition and weight loss (McCance et al. 2014, p. 1489). References Costa Dias, S., Swinson, S., Torrão, H., Gonçalves, L., Kurochka, S., Vaz, C. P., & Mendes, V. (2012). Hypertrophic pyloric stenosis: tips and tricks for ultrasound diagnosis. Insights into Imaging, 3(3), 247-250. doi:10.1007/s-x McCance, K. L., Huether, S. E., Brashers, V. L., & Rote, N. S. (2014). Alterations of Digestive Function in children. In Pathophysiology: The biologic basis for disease in adults and children (7th ed., pp. 1488, 1489). St. Louis, MO: Mosby. Olive, A. P., & Endom, E. E. (2016). In T. W. Post (Ed.), UpToDate. Infantile hypertrophic pyloric stenosis. Retrieved from Rechel DelAntar 5/31/2016 8:54:20 PM Differential Diagnosis Hello Professor and Class, Differential Diagnosis This is a case of a three-month-old boy with a chief complaint of increased vomiting after ingestion of food, which has become more frequent in the last week. Also presents with abdominal distention after eating, irritability and is starting to loose weight. Differential Diagnosis at this time would be: Pyloric Stenosis = is an obstruction of the pyloric sphincter caused by hypertrophy of the sphincter muscle from the stomach to the first part of the duodenum (pylorus). It is one of the most common disorders of early infancy and affects infants between the ages of either 1 and 2 weeks or 3 and 4 months. Occurs largely among males 5 out of 1000 whereas in females 1 out of 1000 and occurs more among Caucasians than African American or Asians, and full-term infants are affected more often than premature infants (McCance, K.L. et. al., 2013). Symptoms: Vomiting is the primary symptom which is non bilious and projectile. There is abdominal distention because the food is unable to pass to the intestines due to the obstruction. Patients like this are often hungry and become irritable. Dehydration occurs as vomiting increases and leads to weight loss or failure to gain weight. Also, Stomach contractions may occur. These are wave-like contractions (peristalsis) that ripple across your baby's upper abdomen soon after feeding, but before vomiting. This is caused by stomach muscles trying to force food through the narrowed pylorus. Etiology: The causes of Pyloric stenosis are multifactorial, some genetic and some multifactorial. Ina study done in Denmark of children born between 1977 to 2008 involving 1,999,738 children, This nationwide study documented strong familial aggregation of pyloric stenosis, with a nearly 200-fold increase among monozygotic twins and 20-fold increase among siblings. Familial aggregation of pyloric stenosis was pronounced even in more distant relatives with a heritability of 87%. Although the study also shows that it is more predominant in males, there is no evidence as yet for a sex-related heritability of pyloric stenosis. Male predominance is also a characteristic of other gastrointestinal diseases, such as Hirschsprung, intussusception, and rotavirus gastrointestinal infections, and suggests that males might be more susceptible with respect to the development, maturation, and function of the gastrointestinal tract (Krogh, C. et. al., 2011). Diagnostic testing: Diagnosis can be made through physical exam. Palpation of the abdomen reveals an olive sized “mass” in the epigastric region. Plain abdominal x-ray will sometimes how a dilated stomach, Upper GI series will show the narrowed pyloric outlet filled with a thin stream of contrast material; a "string sign" or the "railroad track sign". Abdominal Ultrasound is a diagnostic imaging technique, which uses high frequency sound waves to create images of the t organs to be able to see any abnormalities such as pyloric stenosis. Blood tests will also reveal low blood levels of potassium and chloride in association with an increased blood pH and high blood bicarbonate level due to loss of stomach acid (which contains hydrochloric acid) from persistent vomiting (Children’s Hospital of Wisconsin, 2016). References: Children’s Hospital in Wisconsin. (2016). Pyloric Stenosis. Retrieved from hepatology-program/conditions/pyloric-stenosis/. Krogh, C., Gortz, S., Wohlfahrt, J., Biggar, R., Melbye, M. and Fischer, T. (2011). Pre-and Perinatal Risk Factors for Pyloric Stenosis and their Influence On the male predominance. Retrieved from content/early/2012/05/01/. McCance, K.L., Huether, S.E., Brashers, V.L. and Rote, N.S. (2013). Pathophysiology: The biologic basis for disease in adults and children (7 ed.). St. Louis, MO: Mosby. th Lanre Abawonse 5/31/2016 11:03:20 PM Discussion Part Two What is your differential diagnosis at this time? Pyloric stenosis (PS) This occurs when the circumferential muscle of the pyloric sphincter becomes thickened, resulting in elongation and narrowing of the pyloric channel. Peralta (2015) stated that PS is progressive narrowing of the pyloric canal, occurring in infancy. Onset is usually at 3–6 weeks of age; rarely in the newborn period or as late as 5 months of age. It is less common in African American and Asian populations and more common among Caucasians. In PS the circular muscle of the pylorus thickens as a result of hypertrophy and hyperplasia. This produces severe narrowing of the pyloric canal between the stomach and the duodenum, causing partial obstruction of the lumen. Over the course of time complete obstruction occurs, which then results in palpable pylorus hypertrophy as an olive-like mass in the upper abdomen. With this distension and obstruction the patient will experience colicky abdominal pain from peristalsis attempting to overcome the obstruction. The earliest sign obstruction is projectile vomiting of 3 to 4 feet when the child is in a sidelying position, dehydration from loss of large quantities of fluid and electrolytes into the vomiting and weight loss, as is significant for the patient. Gastroesophageal reflux (GERD) is defined as the transfer of gastric contents into the esophagus. This represents symptoms or tissue damage that resulst from GER. GER becomes a disease when complications such as failure to thrive, bleeding, or dysphagia develop. GERD is associated with respiratory symptoms, including apnea, bronchospasm, laryngospam and pneumonia. Peralta (2015) contends that GER is reflux of gastroduodenal contents into the esophagus, larynx, or lungs, with or without resultant esophageal inflammation with symptom that include vomiting, weight loss, failure to thrive and usually resolves by 18 months. GER is associated with our patient in question because GER is related to dysfunction of the lower esophageal sphincter (LES), delay in gastric emptying, poor clearance of esophageal acid, and the susceptibility of esophageal mucosa to acid injury. Transient relaxation of the lower esophageal sphincter is the mechanism that leads to GER. Gastric distention, increased abdominal pressure caused by coughing, central nervous system disease and delayed gastric emptying are some the LES contributor. At infancy the child might present with symptoms like failure to thrive, abdominal distension, and episodes of vomiting. Other symptoms include ribbon like, foul-smelling stools, explosive diarrhea, visible peristalsis, and appearing significantly ill. While our patient displays problem in GERD, it won’t be the primary diagnosis for this patient. Intussusception is the most frequent cause of intestinal obstruction in children between the ages of three months and three years. Lee, Zeddun, and Borum (2015) contend that intussusception is the invagination of a portion of intestine into itself of which may involve any part of small intestine or ileocolic (95%) or colocolic segment. At this proximal segment, the bowel telescopes into a more distal segment, pulling the mesentery with it. As the mesentery gets compressed and angled, it results in lymphatic and venous obstruction. The pressure within the intussusception increases as the edema from the obstruction increases. Thus, the pressure increases, equaling arterial pressure, and arterial blood flow stops, resulting in ischemia and the pouring of mucus into the intestine. The venous engorgement leads to leaking of blood and mucus into the intestine forming the classic sign of currant jelly stool. Other associated symptoms are sudden abdominal pain, vomiting, tender distended abdomen, and fetal positioning when the child is in pain screaming. Part of the problem experienced by the patient is related to this diagnosis, however, it won’t be an appropriate diagnosis for this patient. Is there any genetic component to the top of your differential? Peralta (2015) suggested that recent studies have identified linkage to chromosome 11 and multiple loci and chromosome 16. The incidence is higher in firstborn boys, a five times increased risk with affected 1st-degree relative and strong familial aggregation and heritability. What tests would you order? In order to Identify the problem of pyloric stenosis, Peralta (2015) noted that abdominal US is the study of choice, this will help to see the thickened and elongated pyloric muscle and redundant mucosa. An Upper GI series can reveal strong gastric contractions; elongated, narrow pyloric canal (string sign); and parallel lines of barium in the narrow channel (double-tract sign or railroad track sign). It is also essential to get the chem 7 to check the electrolyte profile for hypokalemia, hypochloremia and metabolic alkalosis. Other tests are available but the listed ones here are essential for this patient. Reference Lee, W., J., Zeddun, S., &Borum, M., L. (2015). Intussusception. In F. J. Domino (Ed.), The 5-minute clinical consult 2015 [electronic resource].Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. Peralta, R. (2015). Gastroesophageal reflux. In F. J. Domino (Ed.), The 5-minute clinical consult 2015 [electronic resource].Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. Peralta, R. (2015). Pyloric Stenosis. In F. J. Domino (Ed.), The 5-minute clinical consult 2015 [electronic resource].Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. Sarah Boulware reply to Lanre Abawonse 6/1/2016 2:58:26 PM RE: Discussion Part Two Lanre, I found your post very informative. Your differential diagnosis of intussusception stood out to me because at work today we were operating on an infant with intussusception and after my readings for class and my experience today at work I thought I should have included this as part of my differential. I decided to look further into this condition. According to Kang and Peters (2014), a key symptom of intussusception is sudden, intermittent, abdominal pain that increases in frequency with time. Between the periods of pain the child is usually pain free. A child will classically flex their hips when in pain, have mucous present in the stool and possible vomiting. Symptoms are usually confused with gastroenteritis. In some cases the patient may only present with lethargy for profound dehydration, therefore intussusception should always be in the differential for pediatric lethargy. Ultrasound has a sensitivity of 97.9% and specificity of 97.8% for detecting intussusception and is the first-line test for detecting intussusception. Thanks, great post! Sarah Bouwlare Reference Kang, P. & Peters, A. (2014). Intussusception. Applied Radiology, 43(9), 42-43. Brittany Heller 6/1/2016 10:49:23 AM pyloric stenosis My diagnosis would be pyloric stenosis. “Pyloric stenosis is an obstruction of the pyloric sphincter caused by hypertrophy of the sphincter muscle” (McCance & Huether, 2014, p. 1488). It is a common disorder in infants and affects infants between the ages of 1 and 2 weeks or 3 and 4 months (McCance & Huether, 2014, p. 1488). The round muscle of the pylorus is enlarged due to hypertrophy and hyperplasia. “The mucosal lining of the pyloric opening is folded and the lumen is narrowed by the encroaching muscle” (McCance & Huether, 2014, p. 1488). The extra effort needed for peristalsis necessary to force the gastric contents through the narrow passage may cause the muscle layers of the stomach to become hypertrophied as well (McCance & Huether, 2014, p. 1489). Symptoms of pyloric stenosis include forceful vomiting developing shortly after eating. The vomit can be forceful and projectile but also is usually always bile free. In severe cases the vomiting can lead to severe fluid and electrolyte imbalances, chronic malnutrition, and weight loss (McCance & Huether, 2014, p. 1489). There are a couple genetic components to pyloric stenosis. Males are more susceptible to this disease than female infants. There has also been suggestions that an increase level in gastric secretions in the mother during the last trimester of pregnancy can increase the likelihood of this disease (McCance & Huether, 2014, p. 1488). A family history of pyloric stenosis may also increase the incidence of it occurring in the infant (McCance & Huether, 2014, p. 1488). The first test that I would order would be an ultrasound. “Ultrasound clearly shows the hypertrophied pyloric muscles and narrowed pyloric channel” (McCance & Huether, 2014, p. 1489). A small mass approximately the size of an olive can be felt in the right upper quadrant in 70-90% of infants with pyloric stenosis (McCance & Huether, 2014, p. 1489). In some patients a wave of peristalsis can be observed after an infant has eaten. Treatment includes replacing fluid and electrolyte imbalances and pyloromyotomy. In this procedure the muscles around the pylorus are split and separated (McCance & Huether, 2014, p. 1489). McCance, K. & Huether, S. (2014) Pathophysiology: The Biologic Basis for Disease in Adults and Children (7 ed). St. Lois: Elsevier. th Instructor Brown reply to Brittany Heller 6/3/2016 11:02:43 AM RE: pyloric stenosis Brittany, I noticed that you stated "Males are more susceptible to this disease than female infants". Can you explain in a pathophysiological format why this may be possible? Of if not, why? Jennifer Roth 6/1/2016 11:36:17 AM Part 2 Hello Dr. Brown and Classmates, Pyloric stenosis (PS) is a narrowing of the pylorus. With pyloric stenosis, the muscles of the pylorus are thickened which prevents the stomach from emptying into the small intestine due to a narrowing of the gastric antrum. The pyloric canal becomes lengthened and is typically edematous and thickened (Hiller, Petty, & Sieren, 2015). Environmental factors and hereditary factors are believed to be contributory to PS, but no definite etiology has been identified at this point. Possible etiologic factors include “deficiency of nitric oxide synthase containing neurons, abnormal myenteric plexus innervation, infantile hypergastrinemia, and exposure to macrolide antibiotics” (Hiller, Petty, & Sieren, 2015). PS occurs most often in infants younger than 6 months and is more common in males than in females. PS has an incidence rate of 2–5 per 1,000 live births (Cascio, Steven, Livingstone, Young, & Carachi, 2013). Infants with PS typically present with vomiting which may occur after each feeding and could be forceful, the infant appears to be hungry after vomiting up a feeding, irritable due to abdominal pain, and the infant may burp often and present as always hungry. Infants with PS may have an electrolyte imbalance, be dehydrated from vomiting, and may even start to lose weight (Hiller, Petty, & Sieren, 2015). Weight loss is an important symptom that requires intervention. Genes may play a role, since children of parents who had pyloric stenosis are more likely to have this condition. No specific genetic pattern has yet to be identified. It is more common in “firstborn white males of northern European ancestry and more concordant in monozygotic than dizygotic twins. It also has predominance in children of affected parents (as many as 7%)” (Cascio, Steven, Livingstone, Young, & Carachi, 2013). The gold standard for diagnosis of PS is an ultrasound (US). A pyloric channel length greater than 16.0 mm with a muscle thickness greater than 3.0 mm is generally considered diagnostic for PS (Cascio, Steven, Livingstone, Young, & Carachi, 2013). Blood tests such as the comprehensive metabolic panel (CMP) would be warranted to rule out an electrolyte imbalance and a complete blood count (CBC) to determine the degree of dehydration and inflammation present. If the US was indeterminate, then a barium x-ray could be ordered to identify a narrowed pylorus as well as inflammation (Cascio, Steven, Livingstone, Young,& Carachi, 2013). References Cascio, S., Steven, M., Livingstone, H., Young, D., & Carachi, R. (2013). Pyloric stenosis in premature infants: Evaluation of sonographic criteria and short-term outcomes. Pediatric Surgery International, 29(7), 697-702. Hiller, D.J., Petty, J.K., & Sieren, L.M. (2015). Recurrent pyloric stenosis: A rare entity. The American Surgeon, 81(9), E330-E331. Instructor Brown reply to Jennifer Roth 6/2/2016 8:22:30 PM RE: Part 2 What causes the muscles of the pylorus to thicken? Deborah Matheny reply to Jennifer Roth 6/5/2016 7:34:41 PM RE: Part 2 Hello Jennifer, Dr. Brown, and Class: I found your posting interesting and informative. My grandson was diagnosed with pyloric stenosis at three weeks old and displayed projectile vomitus which I had not really seen prior to this. I was amazed at how much fluid he vomited and how far it traveled. Surgery was the treatment of choice because there was some bile in his vomitus which the doctors explained to my daughter was because the narrowness of the lumen was almost completely blocked and that they were worried about this occurring and felt that surgery was a step in the right direction. Surgery was done and after an overnight stay he was discharged home without any complications noted. My daughter and I asked family members about pyloric stenosis and we found that my father and one of his many brothers had also had it plus so did my grandfather also on my father’s side of the family. Two of my aunts had the same experience each with their first-born sons. It was a little strange to see how this was a part of family medical health that we did not know about. I know that my daughter and son-in-law were so relieved that his surgery took care of the issue without any further problems. My grandson just turned twelve and you would never know about it if his mother or father did not tell you about it. Again thank you for an interesting read. Debbie Sarah Boulware 6/1/2016 2:37:30 PM Part Two Dr. Brown and Class, Primary Diagnosis: Pyloric Stenosis This condition is characterized by obstruction to gastric emptying as a result of the abnormal thickening of the antropyloric portion of the stomach in early infancy. Hypertrophy and hyperplasia of the circular muscle fibers of the pylorus with proximal extension into the gastric antrum occurs (Ayaz, Dogen, Dillie, Ayaz, & Api, 2015). When pyloric stenosis occurs the muscles of the pylorus are thickened which prevents the stomach from emptying into the small intestine. Because of this vomiting after eating is often the first symptom. On exam a swollen belly with an olive shaped mass in the upper abdomen is usually noted (U.S. National Library of Medicine, 2015). Infants typically have no issues at birth and at some point begin to develop nonbilious forceful vomiting. Gastric outlet obstruction leads to emaciation (Ayaz et al., 2015) Genetics: Although there is debate about a genetic component of pyloric stenosis, infants that exhibit nonbilious vomiting and have a positive family history of pyloric stenosis should cause concern with providers for a positive diagnosis of pyloric stenosis (Ayaz et al., 2015). Children of parents who had pyloric stenosis are more likely to have this condition (U.S. National Library of Medicine, 2015). Tests: An ultrasound of the abdomen is the most accepted imaging tests that can be done to detect and confirm pyloric stenosis. Blood tests may reveal any present electrolyte imbalances and a barium x-ray will reveal a swollen stomach and narrowed pylorus (Ayaz et al., 2015). Differential Diagnosis: Gastroesophageal reflux Disease (GERD): The lower esophageal sphincter (LES) serves as a barrier between the stomach and esophagus. Gastroesophageal reflux (GER) occurs when gastric contents pass back into the esophagus. It is common in infants because they have a shorter esophagus and a liquid diet. When GER causes complications and symptoms, GERD occurs. Symptoms include discomfort when spitting up, irritability, and back arching (Neu, Corwin, Lareau, Marcheggiani-Howard, 2012). Hiatal Hernia: When infants develop a hernia it is usually due to weakness in the abdominal wall. Symptoms may not be apparent in the beginning. Nausea and vomiting may be present. A hiatal hernia occurs when the upper part of the stomach pushes into the chest. It often is associated with GERD (U.S. National Library of Medicine, 2014). Gastroparesis: Delayed gastric emptying can be caused by several different problems. The outlet of the stomach may be obstructed, the pyloric sphincter may not open enough or at the right time, or the normal contraction rhythm of the stomach may become disorganized. Symptoms include nausea, vomiting, bloating, early satiety and abdominal pain (Grover et al., 2012). References Ayaz, U., Dogen, M., Dilli, A., Ayaz, S., & Api, A. (2015). The use of ultrasonography in infantile hypertrophic pyloric stenosis: does the patient’s age and weight affect pyloric size and pyloric ratio. Medical Ultrasonography, 17(1), 28-33. doi:v10.11152/ Grover, M., Bernard, C., Pasricha, P., Lurken, M., Faussone-Pellegrini, M.,…& Farrugia, G. (2012). Clinical-histological associations in gastroparesis: results from the gastroparesis clinical research consortium. Neurogastroenterology and Motility: The Official Journal of the European Gastrointestinal Motility Society, 24(6), 531-539. doi: 10.1111/j..2012.01894.x Neu, M., Corwin, E., Lareau, S., Marcheggiani-Howard, C. (2012). A review of nonsurgical treatment for the symptom of irritability in infants with GERD. Journal for Specialists in Pediatric Nursing, 17(3), 177-192. doi: 10.1111/j..2011.00310.x U.S. National Library of Medicine. (2014). Hernia. Retrieved from U.S. National Library of Medicine. (2015). Pyloric stenosis – infant. Retrieved from Michelle Demey reply to Sarah Boulware 6/5/2016 7:29:04 PM RE: Part Two Hello Sara, Great post, and I agree with the differential diagnosis of pyloric stenosis. I found an interesting article with algorithms to assist in identifying gastrointestinal symptoms such as constipation, regurgitation, and infant colic that frequently affect infants. About 50% of infants present with functional gastrointestinal symptoms, such as colic, regurgitation and constipation, and many infants experience a combination of these symptoms. Each of these conditions accounts for roughly 20-25% of all cases. The Rome III criteria propose diagnostic criteria for these symptoms, but do not propose management techniques. These symptoms are almost never a reason to stop breastfeeding, but functional GI symptoms very frequently lead to formula changes by parents and healthcare providers (Vandenplas et al., 2015). A descriptive study published 30 years ago quantified these frequency, by showing that these moderate digestive problems led to formula changes in 35% of cases, and these findings have repeatedly been confirmed (Vandenplas et al., 2015). Most algorithms propose different approaches for each separate functional GI symptom, but many infants present with a combination of these problems. Cow’s milk protein allergy (CMPA) is not a functional gastrointestinal problem, but it is a similar condition as symptoms of CMPA are unspecific and functional (Vandenplas et al., 2015). CMPA in infants presenting with gastrointestinal manifestations is normally nonimmunoglobulin E (IgE) mediated. References Vandenplas, Y., Alarcon, P., Alliet, P., DeGreef, E., DeRonne, N., Hoffman, I., & VanWinckel, M. (2015, January 29). Algorithms for managing infant constipation, colic, regurgitation and cow's milk allergy in formula-fed infants. ACTA Pediatrica, 449-457. doi:10.1111/apa.12962 Nosimot Adepegba reply to Sarah Boulwar