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Biliary Atresia 10 Gastroesophageal Reflux 14 Ключові Терміни: 4 Gastroenterology__cont._.doc Олена Костянтинівна Редько 2015 Ключові терміни: 3 Зміст Ключові терміни: 3 Inflammatory Bowel Disease 3 Malabsorption Conditions 6 Biliary Atresia 10 Gastroesophageal Reflux 14 Ключові терміни: 4 Inflammatory Bowel Disease Malabsorption Conditions Biliary Atresia Gastroesophageal Reflux Ключові терміни: Biliary atresia, Gastroesophageal (GE) reflux, Gluten-sensitive enteropathy, Inflammatory bowel disease, Malabsorption, Questions, The signs and symptoms of malabsorption, sprue, celiac sprue and celiac disease Inflammatory Bowel Disease This is a 16 year old female who presents with fever and diarrhea. Further questioning finds that she has had similar episodes in the past few years, but none as severe as the current episode. She does not weigh herself regularly so weight loss could not be confirmed. However, she does admit that her clothes feel somewhat looser than last year. Her menstrual periods are regular. Her last menstrual period began two weeks ago. Exam: VS T 37.0, P 85, RR 18, BP 100/65, oxygen saturation 100% in room air. Height is at the 50th percentile. Weight is at the 5th percentile. She is a thin appearing female in no acute distress. HEENT exam is significant for slightly tacky oral mucous membranes. Her eyes are not sunken. Neck is supple without lymphadenopathy. Her heart has a regular rhythm, but slight tachycardia with no murmurs. Her lungs are clear with good aeration. Her abdomen appears scaphoid. There are mildly hyperactive bowel sounds with diffuse vague abdominal pain without any point tenderness. No masses or organomegaly are noted. Her extremities are cool to at the distal limbs, but warm and dry otherwise. Her pulses are good with brisk capillary refill. No rashes are noted. Her breasts and genitalia are Tanner stage 3-4. Rectal exam demonstrates non-specific discomfort without masses or severe tenderness. Her anus is normal externally. Her stool is guaiac positive. A CBC shows mild microcytic, hypochromic anemia and thrombocytopenia. Wright's stain of the stool for fecal leukocytes is positive for WBCs, but no eosinophils. Stool, blood and urine cultures are obtained. Inflammatory bowel disease (IBD) is a term that is used to describe chronic inflammatory diseases of the gut. It usually refers to Crohn's disease and ulcerative colitis. Crohn's disease (CD) is also known as regional enteritis. The disease is described as discontinuous (regional) areas of transmural inflammation that affect any part of the GI tract (mouth to anus). Ulcerative colitis (UC) is described as a process that results in diffuse superficial colonic ulceration. Although there are some discrepancies over previous misdiagnoses of IBD as infectious gastroenteritis, most experts agree that the incidence of UC has increased over the first half of the 1900s. Since then, the prevalence of UC has plateaued, while Crohn's disease has increased during the 1950s-1980s. The incidence of UC, as compared to CD is similar worldwide. Both have an increased prevalence in the Northern regions of the world. The two diseases are prevalent in North America, northwestern Europe, and in the United Kingdom. This is in comparison to the decreased rates in Southern Europe, South Africa, and Australia. IBD is rare in Asia, Africa, and South America. UC and CD are both diseases of late adolescence and early adulthood. However, there have been documented cases of IBD diagnosed in infancy and childhood. The incidence of UC is equal in the male and female gender. Crohn's disease is more common in females than males by 20-30%, but in the younger pediatric age groups, males have a greater incidence. Caucasians, especially Ashkenazi Jewish, have a greater risk than other ethnicities. Although the precise mechanism of IBD is still unknown, there is a general consensus that it is multifactorial. There is currently no known infectious agent that has been identified/isolated, which reproducibly causes IBD. Still, infection may be a "triggering event" for an acute episode of IBD. Viruses and Mycobacterium paratuberculosis are some of the organisms that have been studied. Ключові терміни: 5 Genetics is a likely contributor in the pathogenesis of IBD. In CD, monozygotic twins have a concordance rate of 44%, while just 4% in dizygotic twins. UC has less of a genetic preponderance as monozygotic twins have a concordance rate of 6% to 25%. There are multiple studies attempting to isolate the gene(s) involved in this disease that are beyond the scope of this chapter. Dietary components have also been studied. No toxin or antigen has been isolated. In a retrospective study, CD has been associated with "westernization" of the diet or an increased of intake of animal proteins, total fat and animal fat. Some interesting modulating factors are the protective effects of breastfeeding against CD and appendectomy against UC. Cigarette smoking increases the risk for CD while it decreases the risk for UC. The big picture is that multiple events have an additive effect that results in an abnormal mucosal immune response, which leads to intestinal inflammation. If this inflammatory response is not well regulated, then chronic IBD develops. Common Comparative Aspects of CD and UC: Description Crohn's Disease Ulcerative Colitis Location Mouth to anus Colon only 1. % ileocolic 2. % small intestine 3. % colonic Abdominal mass common rare Perianal disease common rare Strictures common unusual Fistula common unusual Risk of cancer increased slightly increased greatly Histology Transmural inflammation Mucosal inflammation Skip areas Diffuse involvement Aphthoid lesions Crypt abscesses Fissuring ulceration Crypt distortion Granuloma Fibrosis Microscopic Edema, increase in Active UC: Neutrophils in the mononuclear cells in the mucosa, goblet cell mucus depletion, lamina propria. Again, and clumps of neutrophils in crypt the hallmark is transmural lumens. extension into the bowel wall and adventitia. Clinical Presentation Abdominal pain Bloody, mucusy diarrhea Anemia Lower abdominal cramps (less common) Weight loss Abdominal tenderness Falling off growth curve Vomiting Delayed puberty Fever Perianal lesions Weight loss Finger clubbing Crohn's Disease commonly presents with crampy abdominal pain, recurrent fever, weight loss, and diarrhea. Abdominal pain is diffuse and more severe than in UC and often worse in the lower right quadrant. Rectal bleeding is seen in about a third of the cases. Weight loss, poor weight gain, anorexia, and delayed growth occur in 40% of cases. This growth abnormality may present as short stature and/or delay in sexual maturation. Perianal disease may be the presenting complaint. Further examination may show a fistula, skin tags, or recurrent abscesses. Ulcerative colitis presents with bloody stools, abdominal pain, and tenesmus. 100% of cases present with bloody mucinous stool. Mild disease is defined as less than 6 stools per day, no fever, no anemia, and no hypoalbuminemia. Moderate disease is described as more than 6 stools per day, fever, anemia, and hypoalbuminemia. 90% of cases present with mild to moderate disease. Severe disease exhibits high fever, abdominal tenderness, distention, tachycardia, leukocytosis, hemorrhage, severe anemia, and more than eight stools per day. Rare complications that may arise include toxic megacolon and intestinal perforation. Extraintestinal complications of IBD may involve the joints (arthralgias are more common than arthritis), integument (erythema nodosum and pyoderma gangrenosum), eyes (episcleritis, uveitis, and rarely, orbital myositis), hepatobiliary system (sclerosing cholangitis, chronic active hepatitis), pancreas Malabsorption Conditions 6 (pancreatitis), renal system (nephrolithiasis, hydronephrosis), coagulation system (hypercoagulability), and bone (decreased bone density). The diagnosis is based on clinical presentation, radiologic findings, endoscopy with mucosal biopsy, and exclusion of other causes. Since corticosteroids will likely be used for treatment, stool cultures are done to rule out infectious causes. The stool may need to be evaluated for tuberculosis and schistosomiasis. Double-contrast barium enema may show diminished colonic haustrations in UC. In CD, it may identify nodularity, skip areas, a string sign, and fistula formation. Colonoscopy is superior to evaluate the large bowel because of its increased sensitivity and biopsy capability for histologic assessment. Hematologic findings may exhibit anemia and thrombocytopenia. Further studies may show specific nutritional deficiencies including iron deficiency, hypoalbuminemia, and elevated transaminases. There have been recent advances in serologic testing, which in addition to screening for IBD, can differentiate between CD and UC. Anti-neutrophil cytoplasmic antibodies (ANCA) and anti-Saccharomyces cerevisiae antibody (ASCA) are laboratory tests that are used to serve this purpose. ANCAs are immunoglobulin IgG antibodies that are directed against neutrophil cytoplasmic components. Initially ANCAs had been studied in Wegener's granulomatosis and necrotizing vasculitis. By utilizing immunofluorescence studies, UC can be identified as it demonstrates perinuclear staining (pANCA). The test is specific in separating IBD from infectious colitis and other GI disorders. Unfortunately, the sensitivity is only 50-65%. ASCAs are IgG and IgA antibodies that bind to mannose sequences in the cell wall of S. cerevisiae strain Sul. The specificity and sensitivity of this test is also suboptimal. It is positive in 55-60% of people with CD and 5- 10% of
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