Search

Objectives. The current European Society for Paediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) guidelines introduced the option to diagnose coeliac disease (CD) in children and adolescents without upper endoscopy if the defined criteria are met. The aim of our study was to evaluate how frequently paediatric gastroenterologists in Central Europe used the “no-biopsy” approach and how often the duodenal biopsy could have been omitted. Methods. Medical records of patients aged<19 years diagnosed with CD in 2016 from five European countries were analysed, focusing on levels of transglutaminase antibodies (TGA) at the time of diagnosis and on whether the diagnosis was confirmed using duodenal biopsy or “no-biopsy” approach. Clinical presentation and delays until final diagnosis were analysed according to diagnostic approach. Results. Data from 653 children (63.9% female, median age: 7 years, range: 7 months-18.5 years) from Croatia, Hungary, Germany, Italy, and Slovenia were analysed. One fifth (n=134) of included children were asymptomatic at diagnosis. Of 519 symptomatic children, 107 (20.6%) were diagnosed by the “no-biopsy” approach. Out of the remaining 412 children who underwent duodenal biopsies, 214 (51.9%) had TGA≥10 times upper level of normal (ULN) and would have been eligible for the “no-biopsy” approach. Signs and symptoms of malabsorption were more frequent in children diagnosed without duodenal biopsies. There were no differences in diagnostic delays with respect to the diagnostic approach. Conclusion. In this cohort, about 60% of symptomatic CD patients could have been diagnosed without duodenal biopsies. The aim of the “no-biopsy” approach was to make the diagnostic procedure less challenging without compromising its reliability. However, this option was applied only in 20%, in spite of fewer burdens to the family and reduced costs. The reasons for this discrepancy are unknown. Physicians should be made more aware about the reliability of CD diagnosis without biopsies when the ESPGHAN guidelines for CD diagnosis are followed.

The prevalence of inflammatory bowel disease is ten times more common in patients with celiac disease; however, studies investigating the reverse relation have contradictory findings. Many gene polymorphisms are known to be present in both diseases; furthermore, similarities observed in their pathophysiological mechanism, their family concomitance, results of the serologic analysis and their macroscopic and microscopic symptoms in the gastro-intestinal system suggest a relevant association between the two diseases. The author presents the history of four patients, of whom two had both Crohn’s and coeliac diseases. In the two other patients with inflammatory bowel disease the possible diagnosis of coeliac disease was suspected, but after additional examinations coeliac disease was excluded in one patient and seemed to be unlikely in the other patient. The author concludes that the differential diagnosis of the two diseases is not easy and if one of them is diagnosed, the possible presence of the other one should be taken into consideration. Orv. Hetil., 2015, 156(26), 1059–1064.

The prevalence of inflammatory bowel disease is ten times more common in patients with celiac disease; however, studies investigating the reverse relation have contradictory findings. Many gene polymorphisms are known to be present in both diseases; furthermore, similarities observed in their pathophysiological mechanism, their family concomitance, results of the serologic analysis and their macroscopic and microscopic symptoms in the gastro-intestinal system suggest a relevant association between the two diseases. The author presents the history of four patients, of whom two had both Crohn's and coeliac diseases. In the two other patients with inflammatory bowel disease the possible diagnosis of coeliac disease was suspected, but after additional examinations coeliac disease was excluded in one patient and seemed to be unlikely in the other patient. The author concludes that the differential diagnosis of the two diseases is not easy and if one of them is diagnosed, the possible presence of the other one should be taken into consideration.

OBJECTIVES The aim of the study was to evaluate the incidence, baseline disease characteristics, and disease location based on the Paris classification in pediatric inflammatory bowel disease (IBD) in the Hungarian nationwide inception cohort. In addition, 1-year follow-up with therapy was analyzed. METHODS From January 1, 2007 to December 31, 2009, newly diagnosed pediatric patients with IBD were prospectively registered. Twenty-seven pediatric gastroenterology centers participated in the data collection ensuring the data from the whole country. Newly diagnosed patients with IBD younger than 18 years were reported. Disease location was classified according to the Paris classification. RESULTS A total of 420 patients were identified. The incidence rate of pediatric IBD was 7.48/10⁵ (95% confidence interval [CI] 6.34/10⁵-8.83/10⁵). The incidence for Crohn disease (CD) was 4.72/10⁵ (95% CI 3.82-5.79), for ulcerative colitis (UC) 2.32/10⁵ (95% CI 1.71-3.09), and for IBD-unclassified 0.45/10⁵ (95% CI 0.22-0.84). Most common location in CD was L3 (58.7%); typical upper gastrointestinal abnormalities (ulcer, erosion and aphthous lesion) were observed in 29.9%. Extensive colitis in patients with UC (E4, proximal to hepatic flexure) was the most common disease phenotype (57%), whereas only 5% of children had proctitis. A total of 18.6% of patients had ever severe disease (S1). Frequency of azathioprine administration at diagnosis was 29.5% in patients with CD, and this rate increased to 54.6% (130/238) at 1-year follow-up. In UC, only 3.3% received azathioprine initially, and this rate elevated to 22.5% (25/111). Use of corticosteroid decreased from 50% to 15.3% in patients with UC. Rate of bowel resection in patients with CD during the first year of follow-up was 5%. CONCLUSIONS The incidence of pediatric IBD in Hungary was among the higher range reported. This is the first large, nationwide incident cohort analyzed according to the Paris classification, which is a useful tool to determine the characteristic pediatric CD phenotype.

A terápiarezisztens, súlyos Crohn-beteg gyermekek kezelésére új lehetőséget nyújt az antitumornekrózis-faktor-α-terápia (infliximab). Jelen vizsgálat célja az infliximabterápia hatékonyságának, mellékhatásainak felmérése hazánkban, a gyógyszer gyermekgyógyászati alkalmazásának engedélyezésétől a 2008. december 31-ig terjedő időszakban. A vizsgált periódusban országosan 23 gyermek részesült infliximabkezelésben. Az indukciós terápia során a betegek 5 mg/ttkg infliximabot kaptak a 0., a 2. és a 6. héten, ahol meghatároztuk a betegség aktivitását jelző mutatót (pediatric Crohn disease activity index). Az infliximabkezelés során kedvező terápiás választ 18 betegnél (81,8%) tapasztaltunk, teljes remisszióba 13 gyermek került (59,1%). A számításokat 22 beteg adatai alapján végeztük. A kezelés 6. hetére a fistulák 70%-a bezárult. A gyógyszerrel összefüggésbe hozható akut infúziós reakció 2 betegnél jelentkezett, egy másik esetben anaphylaxiás reakció alakult ki. Késői mellékhatás három gyermeknél jelentkezett. A vizsgálatunkban részt vett, hagyományos terápiára rezisztens, súlyos Crohn-betegek döntő többségénél az indukciós infliximabterápia hatásosnak bizonyult.

The authors report the case study of a 16-year old boy who presented with cyclic vomiting syndrome. His main clinical symptoms had been unpredictable sudden-onset vomiting episodes interrupting long episodes of full health lasting for several months since the patient was a toddler. Histological results of the upper tract endoscopy showed eosinophil gastroenteritis with long-existing, undetected cow milk allergy as the likely underlying reason. The patient became symptomless following the elimination of cow milk from his diet. The symptoms did not recur following a cow milk load test carried out half a year later, and the patient continues to be symptomless after more than one-year of continuous cow milk consumption. In this paper, the authors would like to highlight the importance of EG int the differential diagnosis of any chronic, recidive gastrointestinal symptoms and discuss the likely underlying causes of EG in paediatrics.

The authors review two cases of suspected congenital cytomegalovirus (CMV) infections in which modern laboratory approaches were applied to establish the diagnosis postnatally. In the first case, intrauterine infection was suggested by ventriculomegaly, detected by means of a head ultrasonographic scan. The postnatal cranial ultrasonography and computed tomographic scans revealed intracerebral calcifications. CMV was detected in the blood and urine of the newborn. The postnatal serological tests proved that the mother had experienced a primary CMV infection during gestation. Abnormal neurological signs developed in the infant by the age of 9 months. In the second case, the mother had had an active CMV infection at 29 weeks of gestation involving a twin pregnancy. The CMV-specific serological tests demonstrated that this was a recurrent infection. The twins were born without signs or clinical symptoms and CMV was not detected in their urine samples. At 5 months of age, one of the twins excreted CMV in his urine, which must have been a consequence of a postnatal infection. The general screening of young women by CMV serology at the beginning of gestation is recommended. This would establish a CMV serostatus and provide an opportunity for the gynecologist to provide advice concerning the avoidance of infection, especially in cases where the patient is seronegative and therefore at risk of primary CMV infection.

A significant part of cryptogenic cirrhosis among adult patients shows that it can be the result of "burn-out" non-alcoholic steatohepatitis beginning in childhood.Describing the case of a 15-year-old boy the aim of the authors is to raise attention to the fact that doctors should think of the possibility of having a fatty liver in presence of certain etiological features.Although he was asymptomatic, the screening test revealed an elevated serum aspartate aminotransferase level. Abdominal ultrasound examination raised the possibility of a diffuse liver damage. The liver biopsy demonstrated the features of steatosis in the absence of alcohol abuse.On the basis of these results, NASH was diagnosed. The presence of a severe fatty liver at such an early age is quite unusual. In the background, the authors verified familial combined hyperlipidaemia and heterozygous mutation of the cystic fibrosis gene for delta F508 as genetic predisposing factor. The clinical condition was accelerated and worsened by the fact, that the patient has grown fat since his infancy. It did not prove possible to achieve a weight reduction with a fat- and cholesterol-poor diet, increased physical activity and medical treatment. However, there was significant improvement in the laboratory findings.The conclusion drawn from this case, on one hand, is that doctors should think of the possibility of a fatty liver in case of an elevated isolate serum transaminase level in connection with obese or over weight patients. On the other hand the role of other coexisting etiological features must emerge in the background of severe steatohepatitis.