NR 507 PATHOPHYSIOLOGY WEEK 2 TD1 (NR507)

Exam (elaborations) NR 507 PATHOPHYSIOLOGY WEEK 2 TD1 (NR507) Week 2: Respiratory Disorders and Alterations in Acid/Base Balance, Fluid and Electrolytes - Discussion Part One Loading... This week's graded topics relate to the following Course Outcomes (COs). Analyze pathophysiologic mechanisms associated with selected disease states. (PO 1) Differentiate the epidemiology, etiology, developmental considerations, pathogenesis, and clinical and laboratory manifestations of specific disease processes. (PO 1) Examine the way in which homeostatic, adaptive, and compensatory physiological mechanisms can be supported and/or altered through specific therapeutic interventions. (PO 1, 7) Distinguish risk factors associated with selected disease states. (PO 1) Describe outcomes of disruptive or alterations in specific physiologic processes. (PO 1) Distinguish risk factors associated with selected disease states. (PO 1) Explore age-specific and developmental alterations in physiologic and disease states. (PO 1, 4) Discussion Part One (graded) Topic Print View 1 of 55 5/16/2016 10:48 PM NR 507 PATHOPHYSIOLOGY WEEK 2 TD1 been having ongoing foul-smelling , greasy diarrhea. She seems to be small for her age and a bit sickly but, her parent’s state that she has a huge appetite. Upon examination you find that the patient is wheezing and you observe her coughing. Write a differential diagnosis of at least five (5) disorders and explain why each might be a possibility and any potential weaknesses of each differential. Why is it that the later in age this disease manifest itself, the less severe the disease is? What tests would you run to clarify your differential and potentially come to a definitive diagnosis? If the same child was African in ancestry would this change your initial differential? Why or why not? Responses Liberty Neoh 5/8/2016 7:30:59 PM Discussion Part One Dr. Brown and Class, 1.) Write a differential diagnosis of at least five (5) disorders and explain why each might be a possibility and any potential weaknesses of each differential. Cystic Fibrosis (CF) is an autosomal-recessive disease of exocrine gland function involving multiple organs and characterized by chronic respiratory infections, pancreatic enzymes insufficiency, elevated chloride concentration in sweat and chronic obstructive pulmonary disease (COPD) (Lewis, 2016). It is the most common inherited disease in Caucasians. 1 in 3,000 Caucasian children are born with CF.I chose CF as my number one differentials due to the baby’s health history and symptoms: Caucasian, foul-smelling greasy diarrhea, small feature even though the parents stated that “she has a huge appetite”, wheezing, and coughing. Lewis (2016) listed the following symptoms that are associated with CF: Chronic cough, chronic sputum production, nasal polyps, chronic sinusitis, persistent chest x-ray abnormalities, colonization with known CF pathogens such as, Pseudomonas aeruginosa and Staphylococcus aureus. There are also pancreatic insufficiency, pancreatitis, biliary cirrhosis, malnutrition, vitamin deficiency, greasy stools, frequent abdominal pain, cramping with constipation, or obstruction, gastroesophageal reflux disease or GERD present (Lewis, 2016). Celiac Disease (CD) is an immune-mediated systemic disorder triggered by gluten-containing Topic Print View 2 of 55 5/16/2016 10:48 PM Topic Print View 3 of 55 5/16/2016 10:48 PM et al, 2013). 3.) What tests would you run to clarify your differential and potentially come to a definitive diagnosis? A sweat chloride test is conducted to confirm the diagnosis of CF (Lewis, 2016). 4.) If the same child was African in ancestry would this change your initial differential? Why or why not? Children with CF who are from African Ancestry are not very common. I probably would change my number 1 differential and move it lower on my lists. References Cakiri, M., Cezaroglu, S., & Cobanoglu, U. (2016). Celiac disease in children with chronic constipation. Turkish Journal of Medical Sciences, 46(3). doi: 10.3906/sag-1502-130 Cooper, D. N., Krawczak, M., Polychronakos, C., Tyler-Smith, C., &Keher-Sawatzki, H. (2013). Where genotype is not predictive of phenotype: Towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Human Genetics, 132(10). doi: 10.1007/s00439-013-1331-2 41b1dae2023d%40sessionmgr106&hid=104& bdata=JnNpdGU9ZWRzLWxpdmU%3d#AN=&db=a9h Cranford, K. (2014). Milk protein allergy in breastfeeding infants. Journal of Orthomolecular Medicine, 29(2). Retrieved from sid=8857f7e6-f4bd-430d-b605-41b1dae2023d%40sessionmgr106&hid=104& bdata=JnNpdGU9ZWRzLWxpdmU%3d#AN=&db=awh Halliez, M & Buret, A. G. (2013). Extra-intestinal and long term consequences of Giardia duodenalis infections. World Journal of Gastroenterology, 19(47). doi: 10.3748/wjg.v19.i47.8974 Topic Print View 4 of 55 5/16/2016 10:48 PM Lewis, D. (2016). Helping patients with cystic fibrosis live longer. The Journal of Family Practice, 65(3). Retrieved from sid=8857f7e6-f4bd-430d-b605- Instructor Brown reply to Liberty Neoh 5/10/2016 5:36:03 PM RE: Discussion Part One What is going on in the body to cause the chronic cough? Describe from a cellular level. Liberty Neoh reply to Instructor Brown 5/14/2016 9:17:22 AM RE: Discussion Part One Dr. Brown, Cough is defensive reflex which prevents foreign bodies from entering the respiratory tract and also a symptom of many diseases. One of the symptoms of CF is worsening cough due to increase sputum production. According to Belvisi and his colleagues (2011), "coughing is triggered by both mechanical and chemical stimulation of receptors found from the larynx down to the small airways”. A combination of mechanoreceptors and chemoreceptors are thought to be involved in the initiation of the cough reflex. These receptors respond to mechanical stimuli including changes in lung volume, sputum in the airways, smooth muscle constriction and airway wall inflammation. These receptors have been thought to be the main initiators of coughing. Evidence suggests that TRPV1 receptor activation can elicit a cough response in both animal models and in humans. That TRPA1 has been identified as a pro-tussive receptor in both clinical trials and a guinea pig model, and that this effect can be blocked by selective antagonists, are extremely significant findings (Belvisi et al, 2011). Reference Belvisi, M. G., Dubuis, E. & Birrell, M. A. (2011). Transient receptor potential A1 channels: Insights into cough and airway inflammatory disease. Chest, 140(4). Topic Print View 5 of 55 5/16/2016 10:48 PM doi: 10.1378/chest.10-3327 Rechel DelAntar 5/8/2016 8:42:22 PM Differential Diagnosis Hello Professor and Class, Differential Diagnosis This is a case of a 5-month-old Caucasian female child with ongoing foul-smelling greasy diarrhea, observed to have some wheezing and coughing episodes. Patient is observed to be small for her and appears sickly. Five potential diagnoses for this patient are: 1. Cystic Fibrosis – This is multisystem autosomal recessive disease that mostly affects the lungs but also affects the pancreas, liver, kidney and intestines. It predimoninantly affects the Caucasian population and a small percentage of the population are African American and very rare among Native Americans and Asians. This involves the loss of function in the CFTR (CF transmembrane conductance regulator gene). CFTR is involved in the production of sweat, digestive fluids and mucous. If CFTR is non functional, secretions become thick causing the symptoms such as foul smelling greasy diarrhea, wheezing, wheezing coughing and frequent lung infections; at times bowel obstruction. These symptoms cause malnutrition and children appear small for their age. Symptoms often occur in infancy and childhood. Most cases diagnosed in adulthood have no associated symptoms (asymptomatic) or only very mild symptoms (Hodson, M., Geddes, D. and Andrew, B., 2012). Patients that manifest this disease late in age have a milder form of CF called Atypical CF. Instead of having classic symptoms, the individual may only have a mild dysfunction of 1organ making the disease less severe with a longer life expectancy (Schram, C.A., 2012). The same diagnosis could still be made if the patient was African American because although only a small percentage of patients affected with CF are black, there is a still a chance that the disease was passed on genetically. Diagnostic testing for this disease include sweat testing and genetic testing. This diagnosis fits the profile of this patient well with no weakness. 2. Pancreatic Insufficiency – Otherwise known as exocrine pancreatic insufficiency, is a condition characterized by the deficiency of the exocrine pancreatic enzyme resulting in an inability to digest food properly of maldigestion. Exocrine pancreas produces 3 enzymes: amylase, lipase and protease. Fat digestion is not impaired until there are low levels of lipase. Because pancreatic lipase accounts for up to 90% of fat digestion, maldigestion of fat is more profound in EPI than maldigestion of proteins and carbohydrates. Etiology could be from chronic pancreatitis, pancreatic obstruction, complications of Cystic Fibrosis and Shwachman-Diamond syndrome (SDS) and Zollinger-Ellison Syndrome which are autosomal disorders causing pancreatic insufficiency. Signs and symptoms include steatorrhea, diarrhea, weight loss. Flatulence and abdominal distention may cause reflux leading to URI symptoms. It could manifested late in life since symptoms are similar to other GI problems. Diagnostic testing such as MRI, endoscopy and genetic testing is needed to determine cause of EPI (Sanklecha, M. and Balani, K., 2012). The diagnosis would not change fi the patient has an African ancestry. In this cases study, this disease could fit he symptoms however, in EPI stools although malodorous is pale and bulky. Also most patient with EPI do not experience much respiratory symptoms as the one presented in the case study. 3. Celiac Disease - Also known as celiac sprue or gluten-sensitive enteropathy -- is a digestive and autoimmune disorder that results in damage to the lining of the small intestine when Topic Print View 6 of 55 5/16/2016 10:48 PM foods with gluten are eaten. When people with celiac disease eat foods containing gluten, their immune system forms antibodies to gluten, which then attack the intestinal, lining. This causes inflammation in the intestines and damages the villi, the hair-like structures on the lining of the small intestine. Nutrients from food are normally absorbed by the villi. If the villi are damaged, the person cannot absorb nutrients properly and ends up malnourished, no matter how much he or she eats. Symptoms would include diarrhea, has bloating, pale stools, iron deficiency anemia and failure to thrive. Serological testing is available to screen for Celiac disease such as tTg-IgA test as well as intestinal biopsy to confirm the diagnosis. The disease can be detected at a later age and no changes in treatment and prognosis (Tapia, A.R., Hill, I., Kelly, C.,Calderwood, H.and Murray, J., 2013). This diagnosis may not fit case study because although it projects some of the signs and symptoms described, it does not present respiratory symptoms such as wheezing and coughing. 4. Crohn’s Disease – Crohn’s Disease is a digestive condition that causes swelling, cramping, diarrhea and nutritional problems. Crohn’s disease affects the entire thickness of the bowel wall, , the inflammation of the intestine can “skip”-- leaving normal areas in between patches of diseased intestine. The cause of this disease is not well understood but it affects adolescents and young adults 15-35. The GI tract normally contains harmless bacteria, many of which aid in digestion. The immune system usually attacks and kills foreign invaders, such as bacteria, viruses, fungi, and other microorganisms. Under normal circumstances, the harmless bacteria in the intestines are protected from such an attack. In Chron’s disease, these bacteria are mistaken for harmful invaders and the immune system mounts a response. Cells travel out of the blood to the intestines and produce inflammation (a normal immune system response). However, the inflammation does not subside, leading to chronic inflammation, ulceration, thickening of the intestinal wall, and eventually causing patient symptoms. Signs and symptoms would be persistent diarrhea, abdominal cramps, fever, and loss of appetite and weight loss. This diagnosis is applicable to patients with African ancestry. This diagnosis, although some symptoms fit the case study, it does not occur during early childhood and does not have any symptoms associated with wheezing and cough (Chron’s and Colitis Foundation of America, 2016). 5. Lactose Intolerance – It’s the inability of the body to digest lactose, which is a type of natural sugar found in dairy and milk. This is common in adults. It occurs more often in Native Americans and people of Asian, African, and South American descent than among people of European descent. Symptoms would include diarrhea, abdominal pain, diarrhea, gas and bloating. Diagnostic testing includes a hydrogen breath test and lactose tolerance test (National Institute of Diabetes and Digestive and Kidney disorders, 2014). This diagnosis however does not have any of the respiratory symptoms presented in the case study. References: Chron’s and Colitis Foundation of America. (2016). What is Chron’s Disease. Retrieved from Hodson, M., Geddes, D. and Andrew, B. (2012). Cystic Fibrosis (3 ed.). London: Hodder Arnold. National Institute of Diabetes and Digestive Disorder. (2014). Lactose Intolerance. Retrieved from Sanklecha, M. and Balani, K. (2012). Chronic pancreatic insufficiency Think of Shwachmann Diamond Syndrome. Indian Pediatr. 49(5), 4127-418. Schram, C.A. (2012). Atypical Cystic Fibrosis: Identification in the primary Care setting. Canadian Family Physician, 58(12), . Tapia, A.R., Hill, I., Kelly, C.,Calderwood, H.and Murray, J. (2013). Diagnosis and Management o f Celiac Disease. American College of Gastroenterology. Retrieved from rd What is going on in Celiac Disease to cause diarrhea? Describe the process to a cellular level. Topic Print View 7 of 55 5/16/2016 10:48 PM Instructor Brown reply to Rechel DelAntar 5/10/2016 5:37:08 PM RE: Differential Diagnosis Rechel DelAntar reply to Instructor Brown 5/10/2016 9:31:49 PM RE: Differential Diagnosis Hello Professor and Class, Celiac Disease Celiac disease or sprue is also known as Gluten-sensitive enteropathy is an auto immune disorder that primarily affects the GI tract, characterized by a chronic inflammation of the small intestinal mucosa causing malabsorption of nutrient (Frits, K., 2014). And although gluten-sensitive enteropathy is a perceived as malabsorption syndrome of childhood, diagnosis is not made until adulthood. This disease is complex as it involves genetic, immune and environmental factors. It involves both cellular and humoral immunity (McCance, K.L., et. al., 2013). Genetically, majority of the people with CD possess the HLA DQ2 haplotype and 5% have the DQ8 haplotype. These haplotypes are encoded in the HLA class I region of the major histiocompatibility complex on chromosome 6. Immunonologically, when an individual who is sensitive to gluten ingests the substance, an immune mediated reaction is then triggered both innate and adaptive. Transglutaminase 2 (TG2) present in the intestines is stimulated and reacts to gluten forming glutamic acid which is then recognized by the antigen presenting cells for the HLA DQ2/DQ8 receptors for T lymphocytes. The activation of T lymphocytes causes secretion of immunoglobulins, cytokines, interferons, tumor necrosis factor and IL 15 and 17 causing damage to the intestinal villi (Wakim-Fleming, J., 2012). Subsequent injury to the intestinal villi then causes decrease intestinal surface area resulting in inflammatory enteritis leading to osmotic diarrhea. The result is decreased carbohydrate absorption, decreased protein absorption, decreased fat absorption and decreased electrolytes ultimately resulting in malnutrition. References: Frits, K. (2014). Pathophysiology of Celiac Disease. Journal of Pediatric Gastroenterology and Nutrition. 59, 1-4. McCance, K.L., Huether, S.E., Brasher, V.L. and Rote, N.S. (2013). Pathophysiology: The biologic basis for disease in adults and children (7 ed.). St. Louis, MO: Mosby. Wakimg-Fleming, J. (2012). Celiac Disease and Malabsorptive Disorder. Retrieved from gastroenterology/celiac-disease-malabsorptive-disorders/#top. th Alice Jeffries 5/10/2016 2:47:30 AM Discussion Part One Dr. Brown and class, This diagnosis feels very close to home for me. Our twin daughters had a friend in high school with cystic fibrosis (CF). The friend also had a younger brother, also with CF; the younger brother died while still in high school. When one of our daughter was pregnant with her fist baby, she found out just weeks before the baby was due, Topic Print View 8 of 55 5/16/2016 10:48 PM that