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Gastrointestinal Features of Chronic Granulomatous Disease Found During Endoscopy.

ABSTRACT: BACKGROUND & AIMS:Chronic granulomatous disease (CGD) is an inherited disorder of the reduced nicotinamide adenine dinucleotide phosphate oxidase complex within phagocytic cells that predisposes people to bacterial and fungal infections. Approximately 40% of patients with CGD have gastrointestinal involvement. We aimed to characterize the endoscopic features of gastrointestinal CGD and define the role of endoscopy in patients. METHODS:We created a database of all patients with CGD seen at the National Institutes of Health from 1990 through 2010. We identified patients who had an endoscopy, and collected information from those with CGD-associated inflammatory bowel disease. We analyzed clinical data (demographic information and symptoms), endoscopic data (indication, preparation quality, degree of inflammation, mucosal findings, and complications), and pathologic data. RESULTS:A total of 211 endoscopies (96 esophagogastroduodenoscopies, 82 colonoscopies, and 33 flexible sigmoidoscopies) were performed at the National Institutes of Health on 78 patients with CGD. Esophageal, gastric, and duodenal inflammation were detected in 21%, 74%, and 37% of patients, respectively. Esophageal dysmotility and structural abnormalities were noted in 26%. Of the patients who had colonic CGD-inflammatory bowel disease, 74% had skip lesions and 93% had anorectal disease. Enteric fistulae were found in 18% of patients; 73% of these were perianal. Colonic strictures were observed in 24% of patients; 80% were in the anorectal area. CONCLUSIONS:Based on an analysis of clinical and endoscopic data from 78 patients, CGD-inflammatory bowel disease is a distinct entity, primarily involving the anus and rectum, with skip lesions in the remaining bowel. Bowel strictures and fistulae are present in a significant number of patients. Upper gastrointestinal tract inflammatory disease is common, although typically not as severe as colonic disease. Upper and lower endoscopies are important in characterizing the gastrointestinal features of CGD.

SUBMITTER: Khangura SK

PROVIDER: S-EPMC5553864 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature

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Gastrointestinal Features of Chronic Granulomatous Disease Found During Endoscopy.

Khangura Sajneet K SK Kamal Natasha N Ho Nancy N Quezado Martha M Zhao Xiongce X Marciano Beatriz B Simpson Jennifer J Zerbe Christa C Uzel Gulbu G Yao Michael D MD DeRavin Suk See SS Hadigan Colleen C Kuhns Douglas B DB Gallin John I JI Malech Harry L HL Holland Steven M SM Heller Theo T

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 20151109 3

<h4>Background & aims</h4>Chronic granulomatous disease (CGD) is an inherited disorder of the reduced nicotinamide adenine dinucleotide phosphate oxidase complex within phagocytic cells that predisposes people to bacterial and fungal infections. Approximately 40% of patients with CGD have gastrointestinal involvement. We aimed to characterize the endoscopic features of gastrointestinal CGD and define the role of endoscopy in patients.<h4>Methods</h4>We created a database of all patients with CGD ...[more]

PMID: 26545803

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Project description:BACKGROUND:Patients with chronic granulomatous disease (CGD) experience immunodeficiency because of defects in the phagocyte NADPH oxidase and the concomitant reduction in reactive oxygen intermediates. This may result in a reduction in atherosclerotic injury. METHODS AND RESULTS:We prospectively assessed the prevalence of cardiovascular risk factors, biomarkers of inflammation and neutrophil activation, and the presence of magnetic resonance imaging and computed tomography quantified subclinical atherosclerosis in the carotid and coronary arteries of 41 patients with CGD and 25 healthy controls in the same age range. Univariable and multivariable associations among risk factors, inflammatory markers, and atherosclerosis burden were assessed. Patients with CGD had significant elevations in traditional risk factors and inflammatory markers compared with control subjects, including hypertension, high-sensitivity C-reactive protein, oxidized low-density lipoprotein, and low high-density lipoprotein. Despite this, patients with CGD had a 22% lower internal carotid artery wall volume compared with control subjects (361.3±76.4 mm(3) versus 463.5±104.7 mm(3); P<0.001). This difference was comparable in p47(phox)- and gp91(phox)-deficient subtypes of CGD and independent of risk factors in multivariate regression analysis. In contrast, the prevalence of coronary arterial calcification was similar between patients with CGD and control subjects (14.6%, CGD; 6.3%, controls; P=0.39). CONCLUSIONS:The observation by magnetic resonance imaging and computerized tomography of reduced carotid but not coronary artery atherosclerosis in patients with CGD despite the high prevalence of traditional risk factors raises questions about the role of NADPH oxidase in the pathogenesis of clinically significant atherosclerosis. Additional high-resolution studies in multiple vascular beds are required to address the therapeutic potential of NADPH oxidase inhibition in cardiovascular diseases. CLINICAL TRIAL REGISTRATION URL:http://www.clinicaltrials.gov. Unique identifier: NCT01063309.

Project description:This study will determine if the drug infliximab is safe for treating inflammatory bowel disease (IBD) in patients with chronic granulomatous disease (CGD). IBD is an inflammation or irritation of the gut that leads to symptoms such as diarrhea, bloating and stomach cramps. CGD is an inherited disease affecting white blood cells called neutrophils in which patients are susceptible to repeated bacterial and fungal infections. They also have a higher incidence of some autoimmune diseases, such as IBD. Infliximab is approved to treat Crohn’s disease, an IBD similar to that seen in patients with CGD. Patients 10 years of age and older with CGD and IBD may be eligible for this study. Candidates are screened with a medical history, physical examination, blood and urine tests, electrocardiogram (EKG), tuberculosis skin test (PPD skin testing), and stool test for the presence of infections. Additional tests may be done, including colonoscopy (procedure using a flexible tube through the rectum to examine the lining of the gut) and imaging studies such as an x-ray, chest CT scan (test using a special x-ray machine), MRI (test using a magnetic field and radio waves), and barium studies (study using a drinkable solution of barium to help enhance the x-ray pictures of the gut). Participants are divided into patients with IBD symptoms (Group 1) and patients without IBD symptoms (Group 2) for the following procedures: Group 1 Patients are evaluated every 6 months with a medical history and physical examination for signs and symptoms of IBD. Patients who are taking moderate to high doses of steroid medications have their medication slowly lowered (tapered) and are evaluated every 3 months for a total of 2 years. Patients in this group who start to develop IBD symptoms are moved to Group 2 for treatment with infliximab (see below). Group 2 Patients in Group 2 receive infliximab infusions at 2-week intervals for three doses. The drug is given over a 2-hour period through a catheter placed in a vein. Patients are evaluated with a medical history, physical exam, and blood tests the day of each dose. One week after the last dose, they have another evaluation, including a colonoscopy. Patients who respond well to infliximab may continue to receive the drug every 2 months for a total of 1 year, with evaluations at every dosing visit. At the end of the first year of receiving infliximab, all patients have follow-up evaluations every 6 months for a total of 2 years. Group 3 Subjects who volunteer to undergo colonoscopy and research biopsies that serve as controls for evaluation of the patient gut samples.

Project description:Gastrointestinal (GI) cytomegalovirus (CMV) disease is a major cause of morbidity and mortality in immunocompromised patients. Diagnosis of GI CMV disease mostly relies on endoscopy examination and histopathologic findings. There are limited data on the need for follow-up endoscopy with histopathologic examination in patients with upper gastrointestinal (UGI) CMV disease. All adult patients with confirmed and probable UGI CMV disease at a tertiary hospital over a 16-year period whose follow-up endoscopy was available were enrolled. The patients were classified as endoscopic responders if they showed complete or partial improvement on follow-up endoscopy, and as endoscopic nonresponders if there was no improvement or worsening. CMV tissue clearance was defined as absence of any visible CMV inclusion bodies, negative CMV immunohistochemistry and negative CMV polymerase chain reaction in follow-up biopsy tissues. During the study period, 77 patients with UGI CMV disease were analyzed. The median time to follow-up endoscopy was 19 days (interquartile range, 14-27). Of these 77 patients, 52 (68%) were classified as responders, and the remaining 25 (32%) as nonresponders. GI bleeding was more common in the nonresponders than the responders (36% vs 12%, respectively; P?=?0.02). There was no significant difference in CMV tissue clearance between the responders and nonresponders (56% vs 69%, respectively; P?=?0.38), median durations of treatment (20 days vs 21 days, respectively; P?=?0.48), and relapse rates (10% vs 8%, respectively; P?>?0.99). Multivariate analysis showed that the only independent predictive factor for relapse of CMV antigenemia or CMV GI disease was multiorgan CMV disease (odds ratio?=?12.4, 95% confidence interval 1.6-97.9; P?=?0.02). Endoscopic responses were obtained in about two-thirds of patients with UGI CMV disease 2 or 3 weeks after antiviral therapy. However, these follow-up endoscopic findings neither reflected CMV tissue clearance nor predicted disease relapse. These findings suggest that the routine follow-up endoscopy may not be warranted in patients with UGI CMV disease.

Dataset Information

Gastrointestinal Features of Chronic Granulomatous Disease Found During Endoscopy.

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Gastrointestinal Features of Chronic Granulomatous Disease Found During Endoscopy.

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