[Transfer of care of adolescent inflammatory bowel disease patients without longitudinal transition. Lesson from 10 years experiences]. / Gyulladásos bélbetegségben szenvedo gyermekek kezelésének átadása felnottszakrendelésre. 10 éves tapasztalataink összegzése.

INTRODUCTION: Transfer is a planned movement of patients and their medical records from one provider to another. Only a few data are available from real life in inflammatory bowel disease patients in this topic. AIM: Our aim was to retrospectively evaluate the results of the transfer of our patients without longitudinal transition. METHOD: Data of the transferred patients at the University of Szeged were analysed. Patients were diagnosed in paediatric care. Transfer strategy at our departments was detailed medical summary. RESULTS: 59 patients were enrolled in this study. 28.8% of the patients had mild to moderate disease activity and 71.2% was in remission at the time of transfer. Steroid therapy was initiated in 58% of the patients within an average of 9.1 months after the transfer. Anti-tumor necrosis factor therapy was given to 24% of the patients during the paediatric care and to an additional 23% in the adult care within an average of 28 months. Almost 70% of the patients received immunosuppressive therapy during paediatric and adult care. Surgery was required in 17% of the patients within an average 10.7 months after the transfer. CONCLUSION: Our results revealed that one-third of the paediatric patients have been transferred to adult care in active stage of disease. Shortly after the transfer 58% of the patients required corticosteroids and 17% surgery. Every fifth patient needed biological therapy to be initiated after the transfer. Longitudinal transition may have a potential to decrease the need for therapeutic change and the relatively high rate of surgery. Orv Hetil. 2018; 159(44): 1789-1793.

Baseline Characteristics and Disease Phenotype in Inflammatory Bowel Disease.

OBJECTIVES: Predicting short-term relapses and long-term prognosis is of utmost importance in paediatric inflammatory bowel disease (IBD). Our aim was to investigate the short-term disease outcome and medication during the first year in a paediatric incident cohort from Hungary. In addition, association laboratory markers and disease activity indices with short-term disease outcome and medication were analysed. METHODS: From January 1, 2008 to December 31, 2010, demographic data and clinical characteristics of newly diagnosed paediatric patients with IBD < 18 years of age were prospectively recorded. RESULTS: A total of 420 patients were identified (Crohn disease [CD] 266 and ulcerative colitis [UC] 124). Initially, 48% (124/256) of the patients with CD had moderate-to-severe disease (Pediatric Crohn's Disease Activity Index [PCDAI] > 31), and this rate decreased to 2.1% at 1-year follow-up. Proportion of patients with UC with moderate-to-severe disease (Pediatric Ulcerative Colitis Activity Index > 35) at diagnosis declined from 57.5% (69/120) to 6.8% at 1-year follow-up. Terminal ileal involvement correlated with higher initial C-reactive protein (CRP) (P = 0.021) and initial PCDAI (P = 0.026). In UC, elevated CRP (P = 0.002) was associated with disease extension. CRP and PCDAI at diagnosis were associated with the need for immunomodulators at 1 year in children with CD. Initial CRP was also associated with the need for immunomodulators in patients with UC at 1-year follow-up. CONCLUSIONS: At diagnosis, half of the patients with IBD had moderate-to-severe disease, and this rate decreased to <10% after 1 year. Initial CRP and PCDAI were related to the need for aggressive therapy in CD.

Incidence, Paris classification, and follow-up in a nationwide incident cohort of pediatric patients with inflammatory bowel disease.

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.

The fate of tyrosinaemic Hungarian patients before the NTBC aera.

Before the introduction of the NTBC treatment (Orfadine) from two tyrosinemic Hungarian families 1-3 tyrosinemic homozygous male patients died of hepatocellular carcinoma and one patient of hepatocellular carcinoma combined with clear cell renal adenocarcinoma. From the third tyrosinemic family one homozygous girl patient has been treated with NTBC (Orfadine), IMTV-AM, she is symptom-free. Her molecular genetic mutations analysis in the FAH gene detected a common intronel mutation, affecting splicing and of predicted severe effect, IVS6-1 g > t/IVS6-1 g > t with systemic name c.456-1 g > t/c.456-1 g > t (Prof. Magdalena Ugarte).

Diagnostic yield of upper endoscopy in paediatric patients with Crohn's disease and ulcerative colitis. Subanalysis of the HUPIR registry.

BACKGROUND, AIMS: According to Porto Criteria upper gastrointestinal (UGI) endoscopy is recommended in patients with suspected inflammatory bowel disease (IBD). Nevertheless, previous studies revealed frequent involvement of UGI tract even in patients with ulcerative colitis (UC). The aim of the present study was to determine the diagnostic role of esophagogastroduodenoscopy (EGD) and assess the prevalence and different aspects of UGI involvement in children registered in the Hungarian Pediatric IBD Registry (HUPIR) from 1st of January 2007 to 31th of December 2009. METHODS: Twenty seven institutes provided prospective follow-up data about newly diagnosed IBD patients to HUPIR. The registry was based on detailed questionnaire (76 parameters) involving anamnestic data, laboratory findings, activity indexes, diagnostic procedures, endoscopic examinations (EGD and ileocolonoscopy), and histological data. Localization and phenotype of disease were based on the Montreal classification criteria. RESULTS: During the 3-year period 420 children were diagnosed with IBD, 265 (63%) of them had Crohn's disease (CD), 130 (31%) UC, and 25 (6%) IBD-unclassified (IBD-U). The mean age at diagnosis was 13.2 years (range: 1.2-18 years). EGD was performed in 237 patients (56%), in most cases in patients suffering from CD. Macroscopic lesions on EGD were noted in 64% of patients with CD and 40% of children with UC. Characteristic lesions for CD (ulcer, erosion, aphthous lesion, and granuloma) were noted in 31% of CD patients, however, EGD helped to establish the final diagnosis in 9% of CD patients (diagnostic yield, 9%). CONCLUSIONS: There was a high frequency of UGI involvement in children with CD and UC. One third of CD patients showed significant lesions at upper endoscopy and one patient out of ten had real diagnostic help from EGD.

[Analysis of infliximab treated pediatric patients with Crohn disease in Hungary]. / Crohn-beteg gyermekek infliximabkezelésének kezdeti tapasztalatai hazánkban.

Infliximab, the chimeric antibody to tumor necrosis factor-alpha, is indicated for medically refractory pediatric Crohn disease. Aim of our study was to examine the efficacy and side effects of infliximab therapy in Hungarian pediatric patients with Crohn disease since the authorisation of medicine for children to 31.12.2008. 23 children with refractory Crohn disease received infliximab during this period. Induction therapy with 5 mg/kg infliximab at weeks 0, 2, and 6 was introduced. 18 patients (81.8%) achieved clinical response, and 13 patients (59.1%) were in remission at the 6th week of the observation period. The evaluation was based on data of 22 children. Fistula closure rate was 70% at the at the 6th week. Two patients had acute infusion reaction, one had severe anaphilactic reaction after infliximab infusion. Chronic side effects were also observed in three cases. In our study infliximab induction therapy was effective in most pediatric patients with therapy refractory Crohn disease.

Prevalence of SLC22A4, SLC22A5 and CARD15 gene mutations in Hungarian pediatric patients with Crohn's disease.

AIM: To investigate the frequency of the common NOD2/CARD15 susceptibility variants and two functional polymorphisms of OCTN cation transporter genes in Hungarian pediatric patients with Crohn's disease (CD). METHODS: A cohort of 19 unrelated pediatric and 55 unrelated adult patients with Crohn's disease and 49 healthy controls were studied. Genotyping of the three common CD-associated CARD15 variants (Arg702Trp, Gly908Arg and 1007finsC changes) with the SLC22A4 1672C-->T, and SLC22A5 -207G-->C mutations was performed by direct sequencing of the specific regions of these genes. RESULTS: At least one CARD15 mutation was present in 52.6% of the children and in 34.5% of the adults compared to 14.3% in controls. Surprisingly, strongly different mutation profile was detected in the pediatric versus adult patients. While the G908R and 1007finsC variants were 18.4% and 21.1% in the pediatric group, they were 1.82% and 11.8% in the adults, and were 1.02% and 3.06% in the controls, respectively. The R702W allele was increased approximately two-fold in the adult subjects, while in the pediatric group it was only approximately 64% of the controls (9.09% in the adults, 2.63% in pediatric patients, and 4.08% in the controls). No accumulation of the OCTN variants was observed in any patient group versus the controls. CONCLUSION: The frequency of the NOD2/CARD15 susceptibility variants in the Hungarian pediatric CD population is high and the profile differs from the adult CD patients, whereas the results for SLC22A4 and SLC22A5 mutation screening do not confirm the assumption that the carriage of these genotypes means an obligatory susceptibility to CD.

Erythema nodosum in association with celiac disease.

We present a 16-year-old girl with a 4-year history of chronic persistent erythema nodosum. Recurrently low serum iron values suggested the possibility of a malabsorption syndrome. The presence of antitransglutaminase and antiendomysium antibodies and the jejunal biopsy specimen findings showed an underlying celiac disease. On a strict gluten-free diet, the skin lesions resolved and the girl has since remained symptom free for 9 months. Thus celiac disease can be a triggering factor for erythema nodosum. In the chronic form of the skin lesions, serologic testing for this specific enteropathy may be justified.