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Chronic malabsorptive disorder children

Veronika Hammer, Katharina Hammer, Nima Memaran, Wolf-Dietrich Huber, Karin Hammer, Johann Hammer
BACKGROUND: Limited valid data are available regarding the association of fructose-induced symptoms, fructose malabsorption, and clinical symptoms. AIM: To develop a questionnaire for valid symptom assessment before and during a carbohydrate breath test and to correlate symptoms with fructose breath test results in children/adolescents with functional abdominal pain. METHODS: A Likert-type questionnaire assessing symptoms considered relevant for hydrogen breath test in children was developed and underwent initial validation...
March 7, 2018: Digestive Diseases and Sciences
Susana Matamouros, Hillary S Hayden, Kyle R Hager, Mitchell J Brittnacher, Kristina Lachance, Eli J Weiss, Christopher E Pope, Anne-Flore Imhaus, Colin P McNally, Elhanan Borenstein, Lucas R Hoffman, Samuel I Miller
The mature human gut microbiota is established during the first years of life, and altered intestinal microbiomes have been associated with several human health disorders. Escherichia coli usually represents less than 1% of the human intestinal microbiome, whereas in cystic fibrosis (CF), greater than 50% relative abundance is common and correlates with intestinal inflammation and fecal fat malabsorption. Despite the proliferation of E. coli and other Proteobacteria in conditions involving chronic gastrointestinal tract inflammation, little is known about adaptation of specific characteristics associated with microbiota clonal expansion...
February 13, 2018: Proceedings of the National Academy of Sciences of the United States of America
Kimberly Lewis, Ryan Butts, J Antonio Quiros, Michelle Hudspeth, Katherine Twombley, Andrew Savage, Sally Self, Ali Burnette, Shaoli Sun
AIE is a rare disorder in children that presents with severe diarrhea and malabsorption, caused by immune-mediated damage to intestinal mucosa. AIE is often associated with various syndromes of immunodeficiency including IPEX syndrome (immune dysregulation, polyendocrinopathy and enteropathy, X-linked). Dysfunctional T regulatory cells are the source of pathology in both IPEX syndrome and AIE as they are essential in maintaining tolerance to self-antigens and eliminating autoreactive B cells. This case report describes a 10-year-old cardiac transplant and total thymectomy patient on chronic immunosuppression with tacrolimus that presented with AIE and extraintestinal manifestations of cyclical hepatitis...
March 2017: Pediatric Transplantation
Atsuko Soeda, Takashi Mamiya, Yoshinori Hiroshima, Hiroaki Sugiyama, Sayoko Shidara, Yuichi Dai, Akira Nakahara, Kazuto Ikezawa
Collagenous gastritis (CG) is a rare disorder characterized by the thick collagenous subepithelial bands associated with mucosal inflammation. There have been approximately fifty reports in the literature since it was first described in 1989. According to previous reports, CG is heterogeneous and classified into two groups-(1) cases limited to the gastric mucosa in children or young adults, and (2) CG associated with collagenous colitis in elderly adults presenting with chronic watery diarrhea. In Japan, only nine previous cases were reported, and all of them were young adults...
October 2014: Clinical Journal of Gastroenterology
Xuesong Li, Zhihua Huang, Hong Wang
OBJECTIVE: To study the clinical characteristics and early diagnosis of children with 3β-hydroxy-Δ(5)-C27-steroid dehydrogenase (3β-HSD) deficiency. METHOD: Data related to clinical characteristics, serum biochemistry, liver pathology, gene mutations and treatment of two children with 3β-HSD deficiency were analyzed and relevant literature was reviewed. Fifty-three cases of 3β-HSD deficiency were reported since 1993 in the world. RESULT: (1) Both patients showed neonatal cholestasis, blood biochemical examination of patient one showed alanine aminotransferase 292 U/L, aspartate aminotransferase 458 U/L, serum bile acids 1...
May 2015: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Danijela Petković Ramadža, Mario Ćuk, Karin Zibar, Marina Barić, Vladimir Sarnavka, Karmen Bilić, Ksenija Fumić, Jurica Vuković, Silvija Pušeljić, Marijana Ćorić, Ranka Štern Padovan, Marko Kralik, Ivo Barić
Lysosomal acid lipase deficiency is an autosomal recessive disorder with two distinct clinical phenotypes. Wolman disease is rapidly progressive with onset in early infancy. Complete enzyme deficiency results in massive accumulation of cholesterol esters and triglycerides in intestines, liver, spleen and other monocyte-macrophage system cells causing malabsorption, hepatosplenomegaly, liver failure and death in early infancy. Cholesterol ester storage disease may be diagnosed in childhood or later in life. It is characterized by chronic course and variable progression...
March 2015: Lijec̆nic̆ki Vjesnik
Giuliana Morabito, Claudia Romeo, Claudio Romano
Aerophagia is a functional gastrointestinal disorder characterized by repetitive air swallowing, abdominal distension, belching and flatulence. Pathologic aerophagia is a condition caused by the swallowing of excessive volumes of air with associated various gastrointestinal symptoms, such as burping, abdominal cramps, flatulence and a reduced appetite. It is a clinical entity that can simulate pediatric gastrointestinal motility disorders, such as gastroparesis, megacolon and intestinal pseudo-obstruction, and presents more frequently in children with mental retardation...
January 2014: Case Reports in Gastroenterology
Lanlan Geng, Ding-You Li, Wenji Ou, Qunying Yang, Tiefu Fang, Peiyu Chen, Min Yang, Sitang Gong
BACKGROUND: Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic disorder. The prevalence of CSID in Chinese population is unknown and no single case has been reported. METHODS: Sucrose tolerance tests were performed in three children suspected of CSID. Glucose tolerance tests were performed to exclude glucose malabsorption. Blood glucose was measured at fasting and at 30 min, 60 min, 120 min, and 180 min of the study. Gastrointestinal symptoms were recorded up to 4 hours after the study...
2014: BMC Pediatrics
Elzbieta Krzesiek, Barbara Iwańczak
Anemia is a frequent symptom of diseases of alimentary tract, also in children. Among others, inflammatory bowel disease, celiac disease and Helicobacter pylori are most often complicated by anemia. Not infrequently these disorders are accompanied by more than one type of anemia and moreover its pathogenesis may be complex. In children with inflammatory bowel disease iron deficiency anemia is predominant, which is caused by the loss and insufficient supply of iron, but also in this group of diseases anemia of chronic diseases pose a problem...
May 2013: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
Aleksandra Boskovic, Ivana Kitic, Dragan Prokic, Ivica Stankovic
Celiac disease is predominantly a disease of the small intestine characterized by chronic malabsorption in genetically susceptible individuals who ingest grains containing gluten, such as wheat, barley, and rye. Although previously believed to be uncommon, celiac disease may be present in up to 1% of the adult and children population. Celiac disease is associated frequently with iron-deficiency anemia, dermatitis herpetiformis, selective IgA deficiency, thyroid disorders, diabetes mellitus, and various connective tissue disorders but is rarely associated with cardiomyopathy...
2012: Case Reports in Gastrointestinal Medicine
Lucia Magnolo, Mohamed Najah, Tatiana Fancello, Enza Di Leo, Elisa Pinotti, Ines Brini, Neji M Gueddiche, Sebastiano Calandra, Naceur M Slimene, Patrizia Tarugi
Monogenic hypobetalipoproteinemias include three disorders: abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD) with recessive transmission and familial hypobetalipoproteinemia (FHBL) with dominant transmission. We investigated three unrelated Tunisian children born from consanguineous marriages, presenting hypobetalipoproteinemia associated with chronic diarrhea and retarded growth. Proband HBL-108 had a moderate hypobetalipoproteinemia, apparently transmitted as dominant trait, suggesting the diagnosis of FHBL...
January 1, 2013: Gene
Lorenzo D'Antiga, Olivier Goulet
Intestinal failure (IF) is a condition in which severe intestinal malabsorption mandates artificial nutrition through a parenteral route. Causes of severe protracted IF include short bowel syndrome, congenital diseases of enterocyte development, and severe motility disorders (total or subtotal aganglionosis or chronic intestinal pseudo-obstruction syndrome). IF can result in nutritional failure, defined as the long-term failure to nourish a child by natural or artificial means. Today, IF-associated liver disease is the most common cause of parenteral nutrition (PN) failure, but catheter-related sepsis and extensive vascular thrombosis may also jeopardize the health of those receiving PN...
February 2013: Journal of Pediatric Gastroenterology and Nutrition
Nader N Youssef, Adam G Mezoff, Beth A Carter, Conrad R Cole
Short bowel syndrome (SBS) and intestinal failure are chronic malabsorption disorders with considerable nutritional and growth consequences in children. Intestinal failure occurs when the functional gastrointestinal mass is reduced even if there is normal anatomical gastrointestinal length. A number of management strategies are often utilized to achieve successful intestinal rehabilitation and maintain adequate nutrition to avoid intestinal transplant. These strategies include minimizing the effect of parenteral associated liver disease, limiting catheter complications, and treating bacterial overgrowth in the remaining small intestine...
June 2012: Current Gastroenterology Reports
Erik-Oliver Glocker, Daniel Kotlarz, Christoph Klein, Neil Shah, Bodo Grimbacher
Inflammatory bowel disease (IBD), which includes Crohn's disease (CD) and ulcerative colitis (UC), is chronic in nature and is characterized by abdominal pain, diarrhea, bleeding, and malabsorption. It is considered a complex multigenic and multifactorial disorder that results from disturbed interactions between the immune system and commensal bacteria of the gut. Recent work has demonstrated that IBD with an early-onset within the first months of life can be monogenic: mutations in IL-10 or its receptor lead to a loss of IL-10 function and cause severe intractable enterocolitis in infants and small children...
December 2011: Annals of the New York Academy of Sciences
Wolfgang Högler, Ulrich Baumann, Deirdre Kelly
With improved survival of orthotopic liver transplantation (OLT) in children, prevention and treatment of pre- and posttransplant complications have become a major focus of care. End-stage liver failure can cause endocrine complications such as growth failure and hepatic osteodystrophy, and, like other chronic illnesses, also pubertal delay, relative adrenal insufficiency, and the sick euthyroid syndrome. Drug-induced diabetes mellitus post-OLT affects approximately 10% of children. Growth failure is found in 60% of children assessed for OLT...
March 2012: Journal of Pediatric Gastroenterology and Nutrition
Gabriel Samaşca, Mihaela Iancu, Dorin Farcău, Angela Butnariu, Tudor Pop, Alexandru Pîrvan, Mariana Andreica, Nicolae Miu, Victor Cristea, Doru Dejica
BACKGROUND: According to the 2008 celiac disease working group run by Dr. A. Fassano under the auspices of the Federation of International Societies of Pediatric Gastroenterology, Hepatology and Nutrition, celiac disease is a chronic immune-mediated enteropathy characterized by gluten sensitivity, which can affect any organ or system, having a wide range of clinical manifestations of variable severity. The serological diagnosis of celiac disease is based on high sensitivity and specificity tests...
2011: Clinical Laboratory
Hilary F Jones, Geoffrey P Davidson, Doug A Brooks, Ross N Butler
Small-bowel bacterial overgrowth (SBBO) has been implicated in chronic abdominal pain and irritable bowel syndrome in children. This was a retrospective study that aimed to assess the occurrence of SBBO by the lactulose breath hydrogen test in children referred primarily for investigation of carbohydrate malabsorption (n = 287). There were profiles indicative of SBBO in 16% (39/250) of hydrogen-producing children. This indicated that SBBO may be more common in children with gastrointestinal symptoms and apparent carbohydrate malabsorption than previously recognised...
May 2011: Journal of Pediatric Gastroenterology and Nutrition
Concepción Piñero Pérez, Antonio Velasco Guardado, Alejandra Fernández Pordomingo, María Tejedor Cerdeña, Vanesa Prieto Vicente, Alberto Alvarez Delgado, Ana Sánchez Garrido, Beatriz Prieto Bermejo, Juan Martínez Moreno, Fernando Geijo Martínez, Oscar Blanco Muñez, Antonio Rodríguez Pérez
Autoimmune enteropathy (AIE) is an infrequent cause of malabsorption that is usually associated with the presence of circulating autoantibodies and a predisposition to autoimmune disorders. This disease is more frequent in children. The diagnosis of this disorder is based on five criteria: chronic diarrhea (>6 weeks), malabsorption, specific histological findings, exclusion of similar disorders, and the presence of specific antibodies such as anti-enterocyte and anti-goblet cell antibodies. We present the case of a 63-year-old patient with chronic diarrhea, weight loss and significant deterioration of nutritional status...
December 2010: Gastroenterología y Hepatología
Jonathan E Teitelbaum, Dolly Ubhrani
BACKGROUND: Sugar intolerance and functional gastrointestinal disorders are both common in school age children. Both may present with similar complaints such as abdominal pain, diarrhea and bloating. Lactose, fructose and sucrose hydrogen breath tests are widely used to detect sugar malabsorption. AIM: To determine the proportion of children with symptoms of functional gastrointestinal disorders (FGID) that have sugar intolerance as determined by using a breath hydrogen test...
September 2010: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
Noel Peretti, Agnès Sassolas, Claude C Roy, Colette Deslandres, Mathilde Charcosset, Justine Castagnetti, Laurence Pugnet-Chardon, Philippe Moulin, Sylvie Labarge, Lise Bouthillier, Alain Lachaux, Emile Levy
Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause malnutrition, failure to thrive, growth failure and vitamin E deficiency, as well as other complications. Recently, the gene implicated in CRD was identified. The diagnosis is often delayed because symptoms are nonspecific. Treatment and follow-up remain poorly defined.The aim of this paper is to provide guidelines for the diagnosis, treatment and follow-up of children with CRD based on a literature overview and two pediatric centers 'experience...
September 29, 2010: Orphanet Journal of Rare Diseases
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