Desde que se individualizó la enfermedad celíaca en la década de 1950, su diagnóstico y su tratamiento han evolucionado. En la actualidad se basan en consensos y recomendaciones a nivel europeo establecidos fundamentalmente por la Sociedad Europea de Gastroenterología, Hepatología y Nutrición Pediátrica (ESPGHAN). Hoy día, la dieta sin gluten constituye siempre el único tratamiento eficaz de la enfermedad celíaca. Esta dieta excluye de la alimentación las proteínas «tóxicas» para el paciente celíaco: prolaminas del trigo (gliadina, fracción del gluten), de la cebada y del centeno. La dieta sin gluten excluye de la alimentación, ante todo, los productos a base de harina de trigo: pan, pasta, pasteles, bollos y todos los productos alimentarios industriales a los que se añada gluten como agente texturizante. También se excluyen los productos a base de harina de cebada o de centeno. La Association Française des Intolérants au Gluten (AFDIAG) actualiza con regularidad la lista de los productos garantizados sin gluten. La dieta sin gluten conduce a la curación clínica en algunas semanas, a la reanudación del crecimiento ponderoestatural en algunos meses y a la normalización de la estructura de la mucosa intestinal en 1-2 años. Para que resulte eficaz, la dieta debe observarse estrictamente; pequeñas transgresiones diarias son más nocivas que una transgresión importante algunas veces al año. El cumplimiento de la dieta se controla eficazmente mediante la determinación (por lo general una vez al año) de los anticuerpos antitransglutaminasa. La dieta sin gluten se prescribe inicialmente a título terapéutico a un niño enfermo; tras varios años de dieta, cuando el niño o el adolescente está asintomático, se prescribe a título preventivo para evitar una recaída clínica y/o simplemente histológica.

Aim. - This study aimed to test the efficacy of mesalazine in maintaining remission in pediatric Crohn's disease (CD) following successful flare-up treatment.Methods. - In this double-blind, randomized, placebo-controlled trial, 122 patients received either mesalazine 50 mg/kg per day (n = 60) or placebo (n = 62) for one year. Treatment allocation was stratified according to flare-up treatment (nutrition or medication atone). Recruitment was carried out over two periods, as the first period's results showed a trend favoring mesalazine. Relapse was defined as a Harvey-Bradshaw score more than or equal to 5. Time to relapse was analyzed using the Cox model.Results. - The one-year relapse rate was 57% (n = 29) and 63% (n = 35) in the mesalazine and placebo groups, respectively. We demonstrated a twofold lower relapse risk (P < 0.02) in patients taking mesalazine in the medication stratum (first recruitment period), and a twofold higher risk in patients taking mesalazine in the nutrition stratum (second recruitment period), compared with the other groups. None of the children's characteristics, which differed across the two recruitment periods, accounted for the between-period variation in mesalazine efficacy. One serious adverse event was reported in each treatment group.Conclusion. - Overall, mesalazine does not appear to be an effective maintenance treatment in pediatric CD. (C) 2008 Elsevier Masson SAS. All rights reserved.

Etudier l’évolution de la symptomatologie, des modalités de diagnostic et du traitement des patients avec un Déficit Congénital en Saccharase-Isomaltase (DCSI) depuis les 40 dernières années, avec les progrès en gastroentérologie pédiatrique et la modification de la composition en sucre des préparations pour nourrisson, depuis le décret du 1-7-1976 en en France et les recommandations de l’ESPGAN en 1977. Etude rétrospective multicentrique des DCSI diagnostiqués en France de 1963 à 2003. Comparaison selon l’année de naissance (avant et après 1977, par décennie). Evaluation de la qualité de vie réalisée chez 11 patients. 53 DCSI ont été diagnostiqués (âge médian de diagnostic 9,1 mois, avec 79 % de moins d’1 an, délai diagnostique de 3,6 mois après la 1re consultation de gastropédiatrie). L’âge des premiers signes a augmenté de 0,8 mois à 4,8 mois de 1960-1970 à 1990-2003 (p = 0,01), de paire avec le recul de l’âge de diversification (2 vs 4 mois. p = 0,048) et la suppression du saccharose dans les préparations pour nourrisson, avec moins de déshydratation (44 vs 9 %), mais un poids plus faible (-0,5 vs –1,8 DS). Le Breath test (11 vs 64 %) remplace progressivement le test de charge en saccharose (89 vs 54 %). La biopsie digestive avec étude enzymatique reste l’étalon-or du diagnostic du DCSI. Cependant il ne reste actuellement que 2 laboratoires qui réalisent encore cette étude en France. L’âge de la biopsie intestinale diminue de 14 à 9,5 mois (p = 0,03) et le délai diagnostique de 8,9 à 3,4 mois. Une nutrition entérale et parentérale a été utilisée dans 25 % des cas. Un substitut enzymatique a été donnée chez 22 % des patients, habituellement arrêté plus tard, en raison de l’augmentation de la tolérance du saccharose. Cependant, l’étude de auto-évaluation de la qualité de vie (n = 9/11) montre clairement une amélioration plus rapide de celle-ci au 3e et 12e mois du traitement avec le substitut enzymatique. Il s’agit de la plus grande série de DCSI. Il est intéressant de voir comment la modification des habitudes alimentaires et de la composition des préparations pour nourrissons a pu influencer l’âge d’apparition des symptômes.

Terrier, Benjamin M.D.; Fontaine, Hélène M.D.; Schmitz, Jacques M.D., Ph.D.; Perdu, Jérôme M.D.; Hermine, Olivier M.D., Ph.D.; Varet, Bruno M.D., Ph.D.; Buzyn, Agnès M.D., Ph.D.; Suarez, Felipe M.D. Author Information

Journal of Pediatric Gastroenterology and NutritionVolume 39, Issue S1 p. S530-S531 ABSTRACTS: Pre-Congress Workshop Abstracts PC50 IS CHILDHOOD COELIAC DISEASE (CD) A TEMPORARY OR AN INDEFINITE DISEASE? C. Cellier, C. Cellier Gastroenterology, European Georges Pompidou Hospital, Paris, FranceSearch for more papers by this authorE. Grosdidier, E. Grosdidier Gastroenterology, European Georges Pompidou Hospital, Paris, FranceSearch for more papers by this authorN. Patey, N. Patey Pathology, Paris, FranceSearch for more papers by this authorV. Verkarre, V. Verkarre Pathology, Paris, FranceSearch for more papers by this authorD. Rault, D. Rault Gastroenterology, European Georges Pompidou Hospital, Paris, FranceSearch for more papers by this authorN. Cerf-Bensussan, N. Cerf-Bensussan INSERM, Paris, FranceSearch for more papers by this authorN. Brousse, N. Brousse Pathology, Paris, FranceSearch for more papers by this authorJ. Schmitz, J. Schmitz Gastroenterology, Necker, Paris, FranceSearch for more papers by this author C. Cellier, C. Cellier Gastroenterology, European Georges Pompidou Hospital, Paris, FranceSearch for more papers by this authorE. Grosdidier, E. Grosdidier Gastroenterology, European Georges Pompidou Hospital, Paris, FranceSearch for more papers by this authorN. Patey, N. Patey Pathology, Paris, FranceSearch for more papers by this authorV. Verkarre, V. Verkarre Pathology, Paris, FranceSearch for more papers by this authorD. Rault, D. Rault Gastroenterology, European Georges Pompidou Hospital, Paris, FranceSearch for more papers by this authorN. Cerf-Bensussan, N. Cerf-Bensussan INSERM, Paris, FranceSearch for more papers by this authorN. Brousse, N. Brousse Pathology, Paris, FranceSearch for more papers by this authorJ. Schmitz, J. Schmitz Gastroenterology, Necker, Paris, FranceSearch for more papers by this author First published: 01 June 2004 https://doi.org/10.1002/j.1536-4801.2004.tb13672.x Submitted by: [email protected] Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume39, IssueS1June 2004Pages S530-S531 RelatedInformation

OBJECTIVE:The study was carried out by the GFHGNP to determine the annual incidence of symptomatic celiac disease in children.PATIENTS AND METHODS:The diagnostic criteria were: symptomatic patients diagnosed under 15 years of age during 1996, villous atrophy and positivity of antigliadin and/or other antibodies. Cases were collected from referral centers, general hospital pediatric departments and private pediatricians with endoscopic practice.RESULTS:The study involved roughly half of the French pediatric population in 41 out of the 95 French districts. In all, 124 patients were collected: 76 girls and 48 boys. By geographical areas, in 30 districts where collection of data was complete which counted 186,285 births, the yearly incidence varied from 1/1731 births to 1/3110. (0.57@1000 to 0.32@1000). On the whole there were 77 cases i.e. an annual incidence of 1/2419 or 0.41@1000 (confidence interval 95%: 0.32 to 0.50@1000). Lower incidences were observed in the district of Paris: 1/4865 (0.21@1000) and Lyon: 1/3310 (0.27@1000). Those lower incidences could be explained by the difficulties of collecting the data in the biggest urban areas. The first signs occurred before one year of age in 73% of the cases, during the second year of life in 20.5% and after 3 in only 6.5%. The diagnosis was made before 2 years of age in 77% of the cases and after 3 in only 13%. In order of frequency symptoms were: failure to thrive (80%), diarrhea (59%), anorexia (59%), abdominal distension (57%), weight under 2 standard deviations (43%), short stature (43%).CONCLUSION:Compared with previous studies in two French districts between 1975 and 1990, the annual incidence of symptomatic celiac disease in children appears to be on the rise. The usual clinical signs continue to be observed.

INTRODUCTION Congenital disorders of glycosylation (CDG), or carbohydrate deficient glycoprotein syndromes, form a new group of multisystem disorders characterised by defective glycoprotein biosynthesis, ascribed to various biochemical mechanisms. METHODS We report the clinical, biological, and molecular analysis of 26 CDG I patients, including 20 CDG Ia, two CDG Ib, one CDG Ic, and three CDG Ix, detected by western blotting and isoelectric focusing of serum transferrin. RESULTS Based on the clinical features, CDG Ia could be split into two subtypes: a neurological form with psychomotor retardation, strabismus, cerebellar hypoplasia, and retinitis pigmentosa (n=11), and a multivisceral form with neurological and extraneurological manifestations including liver, cardiac, renal, or gastrointestinal involvement (n=9). Interestingly, dysmorphic features, inverted nipples, cerebellar hypoplasia, and abnormal subcutaneous fat distribution were not consistently observed in CDG Ia. By contrast, the two CDG Ib patients had severe liver disease, enteropathy, and hyperinsulinaemic hypoglycaemia but no neurological involvement. Finally, the CDG Ic patient and one of the CDG Ix patients had psychomotor retardation and seizures. The other CDG Ix patients had severe proximal tubulopathy, bilateral cataract, and white matter abnormalities (one patient), or multiorgan failure and multiple birth defects (one patient). CONCLUSIONS Owing to the remarkable clinical variability of CDG, this novel disease probably remains largely underdiagnosed. The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency.

OBJECTIVE: The study was carried out by the GFHGNP to determine the annual incidence of symptomatic celiac disease in children. PATIENTS AND METHODS: The diagnostic criteria were: symptomatic patients diagnosed under 15 years of age during 1996, villous atrophy and positivity of antigliadin and/or other antibodies. Cases were collected from referral centers, general hospital pediatric departments and private pediatricians with endoscopic practice. RESULTS: The study involved roughly half of the French pediatric population in 41 out of the 95 French districts. In all, 124 patients were collected: 76 girls and 48 boys. By geographical areas, in 30 districts where collection of data was complete which counted 186 285 births, the yearly incidence varied from 1/1731 births to 1/3110. (0.57% to 0.32%). On the whole there were 77 cases i.e. an annual incidence of 1/2419 or 0.41% (confidence interval 95% : 0.32 to 0.50%). Lower incidences were observed in the district of Paris: 1/4865 (0.21%) and Lyon : 1/3310 (0.27%). Those lower incidences could be explained by the difficulties of collecting the data in the biggest urban areas. The first signs occurred before one year of age in 73% of the cases, during the second year of life in 20.5% and after 3 in only 6.5%. The diagnosis was made before 2 years of age in 77% of the cases and after 3 in only 13%. In order of frequency symptoms were: failure to thrive (80%), diarrhea (59%), anorexia (59%), abdominal distension (57%), weight under 2 standard deviations (43%), short stature (43%). CONCLUSION: Compared with previous studies in two French districts between 1975 and 1990, the annual incidence of symptomatic celiac disease in children appears to be on the rise. The usual clinical signs continue to be observed.

The frequency of osteopenia in symptom-free adults diagnosed with coeliac disease during childhood and who resumed a normal diet during adolescence is unknown. Severe osteopenia (a bone mineral density below two standard deviations of the mean) was found in up to a third of symptom-free young adults on a normal diet. These patients should not be thought to be disease-free but should receive long-term follow-up and most of them should be advised to resume a gluten-free diet.

En cas de sprue réfractaire, l’entéroscopie permet dans plus de 50% des cas, le diagnostic de jéjunite ulcéreuse. En cas de maladie cœliaque sensible au régime sans gluten, l’entéroscopie n’a pas d’intérêt diagnostique ou thérapeutique car l’atrophie villositaire la plus sévère est toujours présente au niveau du duodénum. Chez les malades avec une malabsorption inexpliquée, la rentabilité diagnostique de l’entéroscopie est de 18%.

Le rôle pathogène du reflux gastro-œsophagien (RGO) dans le déclenchement ou l'aggravation d'un asthme est bien admis, mais la nature exacte de ce rôle est incertaine : réflexe vagal bronchoconstricteur ou aspiration trachéale de liquide gastrique ou association des deux mécanismes. La difficulté d'établir un lien de cause à effet entre le RGO et l'asthme rend difficiles les décisions de traitement. Cependant, il est démontré que la fréquence du reflux est d'autant plus élevée que la pathologie respiratoire est sévère, chronique et résistante aux thérapeutiques. Dès lors, la mise en évidence d'un reflux pathologique par la pHmétrie de longue durée ou la fibroscopie oesophagienne (en cas de signes cliniques d'œsophagite) justifie une mise sous traitement, dont l'efficacité confirmera a posteriori le caractère pathogène du reflux. Ce traitement comportera l'utilisation de molécules prokinétiques comme le cisapride, parfois de molécules antiacides (anti-H2, inhibiteurs de la pompe à protons). Ceci sera, bien sûr, accompagné d'un vigoureux traitement de l'asthme, lui-même capable d'aggraver un reflux par l'augmentation de la pression intra-abdominale et des modifications anatomiques du cardia. La durée du traitement médical est difficile à préciser puisqu'aucune donnée n'existe dans la littérature à ce sujet. On estime à un an au moins le temps nécessaire pour que le traitement anti-reflux et le traitement bronchodilatateur rompent le cercle vicieux entre l'asthme et le RGO. La recrudescence des symptômes après arrêt du traitement est une indication à le reprendre pour une année supplémentaire. Par contre, la nécessité de poursuivre un traitement médical au-delà de 2 ou 3 ans (surtout en cas de symptômes digestifs associés) est une indication au traitement chirurgical.

An eight-year-old girl developed severe anemia. She had a history of neonatal enterocolitis treated by ileocolonic resection. A large ulcer was found on the ileal side of the anastomosis. Serial ileocolonoscopies demonstrated that conservative therapy was ineffective, Surgery ensured recovery. A literature review found 11 similar cases. This rare complication is responsible for unvarying clinical manifestations. The main pathogenic mechanism may be inflammation of the perianastomotic mucosa, which may be secondary to a foreign body reaction with microbial overgrowth proximal to the anastomosis.

Mesalamine as a maintenance treatment in adult crohn's disease (CD) has been shown to prevent relapses notably when given in patients achieving remission. The purpose of this double blind multicenter trial was to assess the efficacy and safety of Mesalamine in maintening remission in pediatric CD patients after relapse treatment through medication or enteral nutrition. Methods: 67 patients with a CD attack (Harvey Bradshaw index > 5) were pre included. 57 were randomized at clinical remission to receive either Pentasa (M) (50 mg/kg DID) or placebo (P) in double blind, for 1 year. Randomisation was stratified according to relapse treatment: medication (Me) n = 39 (75% steroid) or enteral nutrition (En) n = 18. Results: there was no significative difference between the two groups M (n = 28) and P (n = 29). for any clinical or biological parameters measured at pre inclusion and randomisation. Only two treatment failures one in each group were observed up to relapse treatment weaning. Adverse reaction were not different in group M and P. Comparison of cumulative relapse rate curves between treatment group was performed by the log rank test. At 6 and 12 months the Kaplan Meier estimates of the% of patients in remission was higher in group M as compared to P, but not significantly (74% vs 53% at 6 m; 59% vs 37% at12 m). The median time to relapse was over 12 months and 6.5 ± 1.9 months in group M and P, respectively. No difference was observed between the 2 strata Me and En. Further analysis taking into account the influence of pronostic factors are under investigation. Conclusion: this first study in pediatric CD proved the safety of Mesalamine treatment, but failed to demonstrate its efficacy as a maintenance treatment, despite a positive trend. Further analysis and studies with a higher number of patients are needed.

Actuellement, l’hypothèse communément admise pour expliquer le développement des maladies inflammatoires chroniques intestinales est une dysrégulation de la réponse immunitaire muqueuse dirigée contre des éléments de la flore intestinale, survenant chez des patients génétiquement prédisposés. La maladie de Crohn est fréquente dans les pays industrialisés où la prévalence des helminthiases est faible et réputée rare dans les pays en voie de développement où la majorité des individus sont exposés à ce parasite. De ces constatations a grandi l’hypothèse de l’hygiène : une moindre exposition aux agents infectieux ne permettrait pas un bon développement de notre système immunitaire dans l’enfance. Les helminthes, dont Trichuris suis, atténuent l’intensité de la réponse immunitaire chez l’homme et dans des modèles de colites inflammatoires expérimentales. La maladie de Crohn est classiquement associée à une réponse immunitaire de type T-helper (Th1) excessive. Les helminthes empêchent le développement d’une réponse Th1, induisent un profil cytokinique de type Th2 et stimulent les lymphocytes T régulateurs. Sur ces arguments immunologiques, les helminthes ont été proposés dans le traitement de la maladie de Crohn. Quelques essais cliniques ont suggéré l’efficacité et la bonne tolérance d’une exposition aux helminthes dans les maladies inflammatoires chroniques intestinales. Sa tolérance à long terme reste inconnue.The current etiologic model of inflammatory bowel diseases proposes a genetically predisposed host responding to a variety of environmental triggers by exhibiting an abnormal immune response to normal luminal flora. Crohn's disease is common in highly industrialized western countries where helminths are rare and uncommon in less developed areas of the world where most people carry worms. From this observation grew the hygiene hypothesis, which states that our failure to be exposed to previously common infectious agents alters the immune repertoire established in childhood. Helminths diminish immune responsiveness in naturally colonised humans and reduce inflammation in experimental colitis. Crohn's disease involves over reactive T-helper (Th1) pathways, and helminths blunt Th1 responses, inducing production of Th2 cytokines. Helminths also induce regulatory T cells to maintain host mucosal homeostasis. Thus, there is an immunological basis to expect that exposure to helminths such as Trichuris suis will prove beneficial in Crohn's disease. Exposure to helminths may be effective in treating inflammatory bowel diseases and was well tolerated, according to the results of few studies. Its long-term safety remains unknown.

Clinical manifestations of gluten allergy vary according to whether they are mediated by intestinal cell immunity or by IgE, ranging from coeliac disease at one end of the spectrum to acute digestive symptoms at the other end. Rare cases of gluten intolerance without intestinal mucosal atrophy have been described; should Facilitate understanding of their pathophysiology immunohistochemical study of the intestinal mucosa.

A propos d'une nouvelle observation, les auteurs font une revue de la litterature d'une complication des resections ileocoliques pour enterocolites : l'ulcere anastomotique. Apres une resection ileocolique en periode neonatale pour enterocolite, un volumineux ulcere du versant ileal de l'anastomose est revele chez une fille 8 ans par une anemie severe. Le suivi, avec plusieurs ileocoloscopies, montre l'inefficacite du traitement medical alors que la guerison est obtenue apres chirurgie. Ce cas illustre, avec 11 autres publies, une pathologie rare mais stereotypee. Sa particularite est de montrer que l'inflammation de la muqueuse peri-anastomotique, qui pourrait etre secondaire a une reaction a corps etranger et a une proliferation microbienne en amas, a probablement une responsabilite determinante dans la survenue de cette complication.