Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022104 (irritable bowel syndrome)
 8,033 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The 14C-glycocholate breath test was performed in 15 normal subjects and 134 patients clinically suspected of bacterial overgrowth in the proximal small intestine, with functional impairment of the ileum and chologenic diarrohea as well as other forms of diarrhoea. In addition, faecal weight, faecal fat excretion and faecal bile-acid excretion were measured. Early and highest 14CO2 expiration peaks were found as an expression of increased deconjugation of bile acids in patients with fistulae between proximal small intestine and colon, and in 13 of 24 patients with Billroth II gastric resection or duodenopancreatectomy. Bile-acid deconjugation was not increased in sprue, chronic pancreatitis with steatorrhoea, ulcerative colitis, irritable colon, Whipple's disease, Salmonella enteritis, non-specific enteritis, or laxative abuse. In six of twelve patients with Crohn's disease of the ileum there was an increase in deconjugation of bile acids.
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PMID:[Clinical significance of the 14C-glycocholate breath test in the diagnosis of gastro-enterological diseases (author's transl)]. 124 74

Chronic diarrhea, defined by frequent bowel movements with decreased stool consistency lasting for longer than 3 weeks represents a major problem in gastroenterology. In addition to the very frequent functional disturbances of irritable bowel syndrome a wide variety of infectious, drug-induced, alimentary, metabolic, hormonal and organic causes requires a thorough evaluation of this symptom. To reach diagnosis an algorithm applying a wide array of diagnostic procedures based on the results of thorough anamnesis, physical examination and stool visit should be followed. In addition to alleviation of symptoms, reconstitution and prevention of nutrional deficits (volume, electrolytes, trace elements, vitamines, calories) therapeutic approaches should eliminate underlying causes whenever possible. Symptomatic relief is provided by substances inhibiting secretion and motility as the opiatagonist Loperamid or anticholinergics. Substitution of vitamins, trace elements, calories, enzymes or bile salts should be adapted to the individual needs. Elimination of a cause of chronic diarrhea is generally provided be anti-infectious therapy, other causes however (e.g. sprue by the elimination of gliadin from diet) may be treated effectively as well.
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PMID:[Chronic diarrhea--rational diagnosis and therapy]. 885 72

A 17 year old male suffered from iron deficiency of undetermined cause for 2 years. Iron substitution was able to correct it for short periods. With the exception of fatigue and recurring abdominal pain attributed to oral iron therapy no further symptoms were present. The physical status on admission was unremarkable. The laboratory detected intestinal disorders, an anemia of the chronic type without evidence for malignancy or renal failure suggested an inflammatory gastro-intestinal disorder. In spite of a twice negative noninvasive test for gluten-intolerance the clinician favored in his differential diagnosis non tropical sprue over inflammatory bowel disease (IBD, Crohn's disease, Whipple's disease). Histopathology of small bowel specimens did not indicate sprue. An ileo-colonoscopy revealed severe ulcerating ileitis and mild chronic colitis. The histologic specimen revealed a severe ileal inflammation with cosinophilia and the colon specimens epitheloid microgranuloma. These findings are highly compatible with the diagnosis of Crohn's disease. Iron deficiency anemia is common in Crohn's disease. In the current case it is due to disturbed iron uptake. Iron deficiency anemia as sole symptom of Crohn's disease is extremely rare.
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PMID:[Severe chronic iron deficiency in a 17-year-old student]. 962 33

Because of the wide variations in the clinical presentation of celiac disease and because treatment exists that is effective in most cases, screening of the general population for celiac disease has been considered. There is still no evidence that patients who have symptom-free celiac disease are at increased risk of small intestinal lymphoma or other complications. Prevention of osteoporosis seems to be the strongest indicator for widespread screening today [22]. The major cause of failure to respond to a gluten-free diet is continuing ingestion of gluten, but other underlying diseases must be considered. Many different drugs (eg, anti-tumor necrosis factor [TNF]-alpha) have been used in patients who have RCD [23]. Steroid treatment has been reported to be effective even in patients who have underlying early EATL. Histologic recovery in patients who have celiac disease usually takes several months but can take up to 1 year, even if the patient remains on a strict gluten-free diet. Some patients report celiac-related symptoms for months after a single gluten intake. The definitions for RCD in literature vary. The authors consider the definition give by Daum and colleagues [24] suitable. They defined true RCD as villous atrophy with crypt hyperplasia and increased IELs persisting for more than 12 months in spite of a strict gluten-free diet. If a patient is not responding well to a gluten-free diet, three considerations are necessary: (1) the initial diagnosis of celiac disease must be reassessed;(2) the patient should be sent to a dietician to check for errors in diet or compliance problems, because problems with the gluten-free diet are the most important cause for persisting symptoms; (3) other reasons for persisting symptoms (eg, pancreatic insufficiency, irritable bowel syndrome, bacterial overgrowth, lymphocytic colitis, collagenous colitis, ulcerative jejunitis, protein-losing enteropathy,T-cell lymphoma, fructose intolerance, cavitating lymphadenopathy, and tropical sprue) should be considered. Other causes for villous atrophy are Crohn's disease, collagenous sprue, and autoimmune enteropathy. Abdulkarim and colleagues [25] examined 55 patients who had a diagnosis of nonresponsive celiac disease. He found that 6 did not have celiac disease, and25 still had some gluten ingestion.Tursi and colleagues [26] reported 15 patients who had celiac disease with persisting symptoms. Because histology improved in all patients after several months, RCD was excluded. Of the 15 patients, 10 had small intestinal bacterial overgrowth, 2 showed lactose malabsorption causing the described symptoms, 1 had mistakenly taken an antibiotic containing gluten, and 1 patient each had Giardia lamblia and Ascaris lumbricoides. Thus, other entities must be considered in patients who have celiac disease and ongoing symptoms. In a follow-up clinical trial, 158 patients who had celiac disease underwent follow-up small intestine biopsies within 2 years after starting a gluten-free diet. Eleven patients (7.0%) with persisting (partial) villous atrophy were considered to have RCD; 5 of them developed EATL [27].RCD type I is characterized by normal expression of T-cell antigens and polyclonal TCR gene rearrangement.RCD type II is characterized by an abnormal IEL phenotype with the expression of intracytoplasmic CD3e, surface CD103, and the lack of classic surface T-cell markers such as CD8, CD4, and TCR-alpha/beta. This clonal IEL population can be considered crypt IEL [24]. RCD II has a poor prognosis, which is a problem for therapy. Clonal TCR gene rearrangements and loss of T-cell antigens such as CD8 and TCR-beta in IELs may indicate the development of an EATL in patients who have RCD. The markers for an overt EATL are a positive stool blood test, increased lactate dehydrogenase, or beta2-microglobulin [24]. If an overt lymphoma is suspected, upper and lower endoscopy, an ear, nose, and throat work-up, CT scan, capsule endoscopy, and possibly double-balloon enteroscopy should be performed. Most reports of the difficulties in treating patients who have true RCE are casereports. Turner and colleagues [28] reported on an induction of remission by useof the anti-TNF-alpha antibody infliximab and maintenance with prednisoloneand azathioprine. Olaussen and colleagues [29] and Mandal and colleagues [30]tried a nonimmunogenic elemental diet. Gillet and colleagues [31] reported successful treatment of a patient who hadRCD using anti-TNF-alpha antibodies (infliximab) for induction and azathioprinefor maintenance. Maurino and colleagues [32] studied seven consecutive patients diagnosed ashaving refractory sprue and no response to oral or parenteral steroids. Aftertreatment with azathioprine (2 mg/kg/d) and oral prednisone (1 mg/kg/d), fivepatients had a complete clinical remission. Two patients who did not respond totreatment at any time died. Goerres and colleagues [33] described 18 patients who had RCD, 10 of whomhad type I RCD, and 8 of whom had type II RCD. Treatment consisted ofazathioprine combined with prednisone for 1 year. Consistent with reports byother investigators, the response rates in the two groups differed. Eight of the10 patients who had type I RCD had a histologic response. Seven of the eightpatients who had type II RCD died, and six of the eight developed a lymphoma. At present there is no effective treatment for type II RCD.Fig. 3 presents a proposed algorithm for monitoring patients who have ce-liac disease.
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PMID:Monitoring nonresponsive patients who have celiac disease. 1687 29

Differences between children and adults in celiac disease (CD) presentation and epidemiology are reviewed here. Clinical manifestations, histological changes, serology, and response to gluten-free diet are similar. Differences exist in epidemiology, type of clinical presentations, coexisting diseases, complications, and association with obesity. CD is two to five times more common in children than in adults. Classical CD with gastrointestinal symptoms is more common in children whereas nonclassical CD dominates in adults. A gene dose phenomenon (double-dose HLA-DQB1 02 allele) is postulated to be responsible for this difference. Coexisting autoimmune diseases like diabetes mellitus type 1, Sjogren's syndrome, and dermatitis herpetiformis are more common in adults than in children (42 % vs. 5 %). The association of overweight/obesity and CD is stronger in adults than in children (22.5 % vs. 14 %). Besides poor compliance, pancreatic insufficiency, bacterial overgrowth, lactose intolerance, irritable bowel syndrome, lymphocytic colitis, and microscopic colitis are considered responsible for nonresponsive CD in adults but not in children. Complications like refractory sprue and small intestinal neoplasms are seen exclusively in adults. Existing diagnostic criteria (modified ESPGHAN) are not suitable for diagnosing CD in adults as the majority of cases are either nonclassical or subclinical CD.
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PMID:Pediatric and adult celiac disease: similarities and differences. 2371 43