Disorders of Copper Metabolism in Children-A Problem too Rarely Recognized.

Copper plays an important role in metabolic processes. Both deficiency and excess of this element have a negative effect and lead to pathological conditions. Copper is a cofactor of many enzymatic reactions. Its concentration depends on the delivery in the diet, the absorption in enterocytes, transport with the participation of ATP7A/ATP7B protein, and proper excretion. Copper homeostasis disorders lead to serious medical conditions such as Menkes disease (MD) and Wilson's disease (WD). A mutation in the ATP7A gene is the cause of Menkes disease, it prevents the supply of copper ions to enzymes dependent on them, such as dopamine ß-hydroxylase and lysyl oxidase. This leads to progressive changes in the central nervous system and disorders of the connective tissue. In turn, Wilson's disease is an inherited autosomal recessive disease. It is caused by a mutation of the ATP7B gene encoding the ATP7B protein which means excess copper cannot be removed from the body, leading to the pathological accumulation of this element in the liver and brain. The clinical picture is dominated by the liver, neurological, and/or psychiatric symptoms. Early inclusion of zinc preparations and chelating drugs significantly improves the prognosis in this group of patients. The aim of the study is to analyse, based on the latest literature, the following factors: the etiopathogenesis, clinical picture, diagnostic tests, treatment, prognosis, and complications of disease entities associated with copper disturbances: Menkes disease and Wilson's disease. In addition, it is necessary for general practitioners, neurologists, and gastroenterologists to pay attention to these disease entities because they are recognized too late and too rarely, especially in the paediatric population.

Are children with gallstone disease more overweight? Results of a matched case-control analysis.

INTRODUCTION: Gallstone disease (GD) is increasingly common among children, possibly caused by an unhealthy food environment and the associated unhealthy lifestyle. In this study, we investigate the association between body weight and gallstone risk in a cohort of prospectively recruited children with GD. METHODS: We analysed 188 children with gallstones (50.0% girls, median age 9.8 years) and 376 children without stones who were age- and gender-matched to cases in a ratio of 2:1. Cases were prospectively recruited at three Polish university centres (Warsaw, Katowice and Bialystok). Gallstones were diagnosed by either abdominal sonography or by a history of cholecystectomy. Matched controls without gallstones were selected from 22,412 children taking part in nationally representative Polish health surveys (OLA and OLAF studies) which provided height and weight data for randomly selected pre-school (2.5-6 years) and school aged (7-18 years) children and adolescents. RESULTS: Analysis of the age- and gender-matched cases and controls demonstrated that patients with GD had significantly higher BMI (P = 0.02) and BMI z-score (P < 0.01) than children without stones. Children with gallstones were more frequently overweight (35.6%, P < 0.01) and obese (12.2%, P < 0.01) than controls (18.4% and 6.7%, respectively). Regression analyses showed that BMI, BMI z-score, overweight and obesity were all associated with increased GD risk (all P < 0.05). CONCLUSIONS: Overweight and obesity are common in children with cholelithiasis. Given the epidemic of obesity in children we should expect an increasing prevalence of gallstones and stone-related complications in youths and in adults.

The Intersection of Human and Veterinary Medicine-A Possible Direction towards the Improvement of Cell Therapy Protocols in the Treatment of Perianal Fistulas.

The effective treatment of perianal fistulizing Crohn's disease is still a challenge. Local administration of mesenchymal stromal cells (MSCs) is becoming a part of accepted treatment options. However, as a fledgling technique, it still can be optimized. A new trend in translational research, which is in line with "One Health" approach, bases on exploiting parallels between naturally occurring diseases affecting humans and companion animals. Canine anal furunculosis (AF) has been indicated as condition analogous to human perianal Crohn's disease (pCD). This narrative review provides the first comprehensive comparative analysis of these two diseases based on the published data. The paper also outlines the molecular mechanisms of action of MSCs which are likely to have a role in modulating the perianal fistula niche in humans, and refers them to the current knowledge on the immunomodulatory properties of canine MSCs. Generally, the pathogenesis of both diseases shares main determinants such as the presence of genetic predispositions, dysregulation of immune response and the relation to intestine microbiota. However, we also identified many aspects which should be further specified, such as determining the frequency of true fistulas formation in AF patients, elucidating the role of TNF and Th17 pathway in the pathogenesis of AF, or clarifying the role of epithelial-to-mesenchymal transition phenomenon in the formation of canine fistulae. Nevertheless, the available data support the hypothesis that the results from testing cell therapies in dogs with anal furunculosis have a significant translational value in optimizing MSC transplants procedures in pCD patients.

The rs12532734 Polymorphism Near the Solute Carrier 26A3 Gene Locus Is Associated With Gallstone Disease in Children.

Gallstones are increasingly frequent in children. In this candidate gene study, we genotyped 5 gene variants ( ANO1 , SPTLC3 , TMEM147 , TNRC6B , rs12532734) from a recent gallstone genome-wide association study (GWAS) in a cohort of 214 children with gallstones and 172 gallstone-free adult controls. In total, 138 genotyped children presented with symptomatic gallstone disease, 47 underwent cholecystectomy, and 126 received ursodeoxycholic acid (UDCA) as therapy for stones. Among 5 tested variants, the rs12532734 polymorphism modulated the gallstone risk in the studied cohort. Its genotype distribution significantly ( P = 0.025) departed from the Hardy-Weinberg equilibrium among cases, and the common allele was associated with increased odds of developing gallstones at young age (OR = 1.69, P = 0.014). SLC26A3 is the nearest gene to rs12532734 and is involved in the transepithelial bicarbonate and chloride transport. The association of rs12532734 with pediatric gallstones is a novel finding warranting further investigations also with regard to biliary bicarbonate flux and bile composition.

Assessment of Liver Fibrosis with the Use of Elastography in Paediatric Patients with Diagnosed Cystic Fibrosis.

Background: Complications of cystic fibrosis-associated liver disease (CFLD) are a leading nonpulmonary cause of death. Noninvasive tests enabling early detection of liver changes, especially in children are sought. The aim of the study was to assess the scale of liver fibrosis with the use of elastography in paediatric patients with diagnosed cystic fibrosis (CF) and its comparison with other tests (APRI and Fibrotest). Methods: We examined 41 children, in the age range 2-21 years, with diagnosed CF. The analysis a included clinical picture, laboratory parameters of liver damage, and cholestasis. Aspartate aminotransferase-to-platelet ratio index (APRI) and Fibrotest were done in all patients. Liver stiffness measurements were acquired using shear-wave elastography (SWE). Results: CFLD was diagnosed in 16/41 patients (39%). Abnormal elastography was observed in 19/41 patients (46.3%), and in 5/41 (12.2%), the changes were advanced (F4). Abnormal elastography was observed in 12/16 (75%) of the patients with CFLD, and in 7/25 (28%), there were no lesions observed in the liver in the course of cystic fibrosis. In all patients with F4, we observed abnormal results of the APRI and Fibrotest. In most patients with small changes in elastography, we found normal results of the APRI and Fibrotest. Conclusion: Elastography seems to be a noninvasive examination useful in everyday clinical work in detecting early liver changes and monitoring of progression in paediatric patients with diagnosed cystic fibrosis, ahead of changes in laboratory tests. The cost-effectiveness of this test, the possibility of its repetition, and its availability are additional benefits.

Common variant p.D19H of the hepatobiliary sterol transporter ABCG8 increases the risk of gallstones in children.

INTRODUCTION: Gallstones are increasingly common in children. Genetic analyses of adult cohorts demonstrated that the sterol transporter ABCG8 p.D19H and Gilbert UGT1A1*28 variants enhance the odds of developing gallstones. The genetic background of common lithiasis in children remains unknown. METHODS: Overall, 214 children with gallstone disease (1 month-17 years, 107 boys) were inclueded. The control cohorts comprised 214 children (age 6-17 years, 115 boys) and 172 adults (age 40-92 years, 70 men) without gallstones. The ABCG8 p.D19H and UGT1A1*28 polymorphisms as well as ABCB4 (c.504C>T rs1202283, c.711A>T rs2109505) and NPC1L1 variants (p.V1296V rs217434, c.-18C>A rs41279633) were genotyped using TaqMan assays. Serum concentrations of plant sterols and cholesterol precursors were measured by gas chromatography/mass spectrometry. RESULTS: The ABCG8 risk allele was associated with an increased risk of stones (OR = 1.82, p = .03). Children carrying the p.19H allele presented with lower serum concentrations of surrogate markers of intestinal cholesterol absorption and decreased ratios of phytosterols to the cholesterol precursor desmosterol. Carriers of the common NPC1L1 rs217434 allele had an increased gallstone risk compared with stone-free adults (OR 1.90, p < .01). This variant also affected the ratio of phytosterols to cholesterol precursors (p = .03). Other tested variants were not associated with gallstone risk. CONCLUSIONS: The p.D19H ABCG8 and, to a lesser extent, NPC1L1 rs217434 variants increase the risk of early-onset gallstone formation. These results point to the presence of a common lithogenic pathway in children and adults.

Analysis of the Clinical Course of Primary Sclerosing Cholangitis in Paediatric Population-Single Center Study.

Background and Objectives: Primary sclerosing cholangitis (PSC) is a rare cholestatic disease of the liver of unknown etiology, severe course and poor prognosis. PSC most often co-occurs with inflammatory bowel diseases (IBD), especially with ulcerative colitis (UC). The aim of the study was the analysis of the clinical course of primary sclerosing cholangitis in children, hospitalized in the Gastroenterology Unit in Katowice. Materials and Methods: The analysis included 30 patients, aged from 7 to 18 years, 21/30 boys (70%) and 9/30 girls (30%), diagnosed with PSC in the years 2009-2019. The analysis included the age at diagnosis, clinical symptoms, course of the disease, coexisting diseases, laboratory and imaging results, and complications. Results: The average age at diagnosis was 13 years. 22/30 (73.3%) patients suffered from UC, 4/30 (13.3%) were diagnosed with Crohn's disease (CD), 2/30 (6.66%) with Eosinophilic Colitis (EC). 2/30 patients (6.66%) had no clinical evidence of coexistent IBD to date. In addition, 7/30 (23.3%) had an overlap syndrome of primary sclerosing cholangitis/autoimmune hepatitis. When PSC was detected before IBD (6/30-20%), patients had complications more often compared to those diagnosed with IBD first or PSC and IBD at the same time. At the moment of diagnosis 6/30 (20%) patients presented with abdominal pain, which was the most common symptom, 3/30 (10%) jaundice, while 17/30 (56.6%) were asymptomatic but had abnormal results of the laboratory tests. Conclusions: Monitoring liver markers in IBD patients is important since most PSC cases are asymptomatic and their elevation might be the first sign of the disease. Patients diagnosed with PSC before IBD diagnosis are more likely to have a more aggressive course of the disease.

Analysis of frequency and risk factors for complications of enteral nutrition in children in Poland after percutaneous endoscopic gastrostomy placement.

OBJECTIVES: The aim of the study was to assess the complication rate and identify whether age, nutritional status, and history of respiratory aspiration prior to percutaneous endoscopic gastrostomy (PEG) are risk factors for post-PEG placement complications in Polish children. In addition, the safety of two enteral feeding methods (3 h vs. 8 h) after PEG insertion in children was compared. METHODS: Children with clinical indications for PEG placement were recruited from six medical centers in Poland to participate in the study. The patients were centrally randomized to receive the first bolus feed via a feeding tube at 3 h (group 1) or 8 h (group 2) after PEG placement. The preprocedural preparation, postoperative care, and resumption of feeding were performed on all of patients in accordance with the study protocol. Patients were followed for 12 mo. RESULTS: Of the 97 randomized patients, 49 were assigned to group 1 and 48 to group 2. Full feed after PEG placement was achieved within 24 to 48 h in most cases (74% vs. 82%). There were no differences between the groups regarding the number of early mild (31.3% vs. 31.3%) and serious (2.1% vs 8.3%) complications or the duration of hospitalization after PEG placement (P > 0.05). The most common serious complication after PEG placement was accidental displacement of PEG. Most reported late complications were mild. The results of the regression analysis indicate no statistically significant effect of age, body mass index standard deviation score, white blood cell count, serum albumin level, and respiratory aspiration in the medical history on the occurrence of mild and severe complications. CONCLUSIONS: The early initiation of post-PEG feeding was not associated with an increase in the number of complications. Most complications after the PEG procedure were mild. Age, serum albumin level, white blood cells, body mass index standard deviation score, and a history of aspiration to the respiratory tract were not confirmed as a risk factor for post-PEG complications in children.

Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls.

Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The paper presents a case of Polish NICCD patient presenting with low birth weight, failure to thrive, prolonged cholestatic jaundice with coagulopathy and hypoalbuminemia with normal results of MS/MS newborn screening but with high blood citrulline level observed at 3 months of age. Unreported findings included N-hypoglycosylation and increased serum very-long-chain fatty acids (VLCFA), probably secondary to liver impairment. Final diagnosis was established based on whole-exome sequencing (WES) analysis.

Assessment of Selected Parameters of Liver Fibrosis and Inflammation in Patients with Diagnosed Cystic Fibrosis.

Changes in the liver and bile ducts observed in patients diagnosed with cystic fibrosis result from inflammatory processes as well as fibrosis, remodeling, apoptosis, and cholestasis. As a consequence, portal hypertension, cirrhosis, and hepatic failure may develop. So far, the complexity of these processes has not been elucidated. Study Objectives. The aim of the study was to evaluate the selected parameters of hepatitis and fibrosis (Fibrotest, Actitest, and APRI) in patients diagnosed with cystic fibrosis. Material and Methods. The study included 79 patients with cystic fibrosis, aged 1 to 20 years (mean age 9.8 years), 49 girls (62%) and 30 boys (38%). The analysis involved the following: age, sex, clinical manifestations, laboratory tests evaluating pancreas function, parameters of liver damage, and cholestasis. Fibrotest, Actitest, and APRI were performed in all subjects. Results. Elevated parameters of hepatic cell damage (hypertransaminasemia) were found in 31/79 (39.2%) patients, while abnormal cholestasis parameters in 21/79 (26.6%). The abnormal results of Fibrotest were reported in 15% of patients (12/79), while of Actitest in 10% (8/79). In contrast, elevated APRI values were found in only 7.6% (6/79) of subjects. There was a statistically significant correlation between APRI and age (higher values were observed in younger children) and between Fibrotest and Actitest and pancreatic insufficiency (higher values were found in subjects without this abnormality). Moreover, Fibrotest values were significantly higher in girls. There was no correlation between Fibrotest, Actitest, and APRI values and the type of mutation. Conclusion. It appears that Fibrotest may be used as an early marker of liver fibrosis in patients with cystic fibrosis. Increased APRI values were only found in subjects with advanced hepatic lesions, most often in the form of portal hypertension.

Autoimmunity Predisposition in Girls With Turner Syndrome.

Background: Turner Syndrome is associated with an increased risk of autoimmune diseases, such as autoimmune thyroiditis, coeliac disease, type 1 diabetes mellitus, inflammatory bowel disease, alopecia areata, or vitiligo. The presence of isochromosome iXq and exposure to estradiol may contribute to the development of the autoimmune process. The aim of this study was to determine the prevalence of autoimmune diseases in a group of TS patients and to assess the impact of karyotype and puberty on the development of autoimmune diseases. Patients and Methods: The analysis encompassed clinical and biochemical data of 134 patients treated between 2001 and 2018. All the patients were examined for autoimmune disease symptoms and tested for the presence of antithyroperoxidase (anti-TPO) and antithyreoglobulin (anti-TG) antibodies. In 73 of the patients, anti-transglutaminase (anti-tTG) antibodies were measured. Thyroid function was assessed by measuring TSH and fT4 levels. Results: The mean follow-up was 5.7 ± 3 years. An autoimmune disease was diagnosed in 46 (34.3%) patients: 39 (29.1%) had only one disorder, whilst 7 (5.2%) presented two disorders. The most common disorder, observed in 40 (29.9%) patients, was thyroid autoimmunity. Hashimoto disease was diagnosed in 20 (14.9%) patients. Of the 73 patients tested for coeliac disease, 4 (5.5%) had anti-tTG and 2 (2.7%) presented overt coeliac disease. Vitiligo was diagnosed in 3 (2.2%) patients, type 1 diabetes mellitus or psoriasis were diagnosed in 2 (1.5%) patients, whilst alopecia areata or lichen sclerosus were diagnosed in 1 (0.7%) patient. The impact of karyotype or estradiol exposure on developing autoimmune diseases were not statistically significant. Conclusions: Our study showed a higher incidence of autoimmune diseases in TS, which is in line with the literature; however, the impact of iXq, or spontaneous/inducted puberty was not confirmed.

Tolerability and safety of early enteral nutrition in children after percutaneous endoscopic gastrostomy placement: A multicentre randomised controlled trial.

BACKGROUND & AIMS: We assessed the tolerability and safety of implementing early enteral nutrition in children at 3 h after percutaneous endoscopic gastrostomy (PEG) placement to establish an optimum feeding mode in paediatric patients that reduced the fasting period, the inadequate nutritional support interval, and the hospitalisation time. METHODS: Children with clinical indications for PEG placement were recruited from six medical centres in Poland to participate in the study. The patients were centrally randomised to receive the first bolus feed, which comprised a polymeric diet (1 kcal/mL), via a feeding tube at 3 h (group 1) or 8 h (group 2) after PEG placement. The pre-procedural preparation, the post-operative care, and the resumption of feeding were performed on all of the patients in accordance with the study's protocol. The primary endpoint was the number of patients who consumed a full feed, which contained their total fluid and caloric requirements, within 48 h of the first bolus feed. The secondary endpoints were the number of complications and the duration of hospitalisation after PEG placement. RESULTS: Of the 97 randomised patients, 49 were assigned to group 1 and 48 were assigned to group 2. There were no differences between the groups regarding feeding tolerability (81.6% vs. 91.6%), the number of complications (25.5% vs. 37.5%), or the duration of hospitalisation after PEG placement (p > 0.05). Full feed post PEG placement was achieved within 24-48 h in most cases (74% vs. 82%). Most of the complications were mild. Two patients in group 2 due to dislocation of the PEG were qualified for laparotomy (at 6 days post-PEG placement in one case and at 14 days post-PEG placement in the other case). One patient in group 2 died at 7 days post-PEG placement; the death was unrelated to the investigation. CONCLUSIONS: Introducing feeding at 3 h post-PEG placement in children appears to be well tolerated. The early initiation of post-PEG feeding was not associated with an increase in the number of complications and it had no impact on the duration of hospitalisation. CLINICAL TRIAL REGISTRY: www.clinicaltrials.gov (NCT02777541; registration date: 18/05/2016).

Oxidative and Antioxidative Stress Status in Children with Inflammatory Bowel Disease as a Result of a Chronic Inflammatory Process.

Oxidative stress (OS) has been recently implicated in the disease pathogenesis in inflammatory bowel disease (IBD). The aim of the study was to evaluate oxidative and antioxidative stress status and the risk of the atherosclerotic process in children with IBD and functional gastrointestinal disorders (FGID). The prospective study included a group of 71 children during a period of 2 years. In all children, laboratory tests were performed and intima-media complex in the carotid artery was measured (IMC). Low values of OS were more frequent in children with IBD than in the FGID group. The average concentration of oxidized lipoprotein with average density (oxLDL) was lower in patients with IBD. Among patients with IBD, higher concentrations of oxLDL were recorded in patients with longer-duration disease and with higher concentrations of total cholesterol. In the IBD group, more often, higher concentrations of anti-oxLDL were recorded among patients with longer-duration disease. The obtained results did not support the hypothesis of total antioxidant capacity depletion and greater overall OS in patients with IBD. Patients with IBD with a longer duration of the disease have higher concentrations of oxLDL and anti-oxLDL.

Serum Level of D-Lactate in Patients with Cystic Fibrosis: Preliminary Data.

D-Lactate is produced by the intestinal biota and later absorbed into circulation. Some patients with cystic fibrosis (CF) develop exocrine pancreatic insufficiency that may disturb the gut microbiome and enhance the production of D-lactate. However, this concept has not been studied yet. The aim of the study was to assess D-lactate concentration in relation to the occurrence of clinical features, activity of CF, and diet composition in paediatric patients. Patients and Method. Serum concentrations of D-lactate were measured in 38 CF patients (19 girls and 19 boys) from 6 months to 18 years of age. The analysis included age, sex, clinical symptoms, diet (the variety and calorie needs), the laboratory tests for pancreatic efficiency (serum levels of albumin and glucose, faecal elastase activity, and faecal fat index) and faecal calprotectin (the marker of intestinal inflammation), and parameters of liver damage and of cholestasis (the activity of aminotransferases, γ-glutamyltransferase, level of bilirubin, and international normalized ratio). Results. The median level of D-lactate was 0.86 µg/ml (1Q-3Q: 0.48-2.03) and correlated with the CF severity in the Schwachman-Kulczycki score, parameters of pancreatic insufficiency, and the presence of intestinal inflammation. An increased level of D-lactate was observed in the subgroup with pancreas insufficiency (1.05 versus 0.73; p < 0.05), parallel with an elevated level of calprotectin (0.948 versus 0.755; p = 0.08). There was no relationship between energy consumption and diet composition and serum D-lactates. Conclusion. Serum D-lactate concentration in CF patients is a promising new marker of exocrine pancreatic insufficiency probably related to intestinal flora dysbiosis/overgrowth.

Serum Hepcidin Level as a Marker of Iron Status in Children with Cystic Fibrosis.

INTRODUCTION: Iron deficiency is common in patients with cystic fibrosis. Conventional iron status markers are often abnormal in patients with CF, reflecting inflammation and/or infection, rather than actual iron stores. The aim was to evaluate serum hepcidin levels against selected iron status markers, assuming that hepcidin may be a more sensitive indicator of iron management in patients with active inflammation, such as those with CF. MATERIAL AND METHODS: 46 children with cystic fibrosis and 31 healthy controls were enrolled. Hepcidin concentration was evaluated, along with the following other blood assays: full blood count, Fe, ferritin, transferrin, TIBC, liver markers, and CRP. RESULTS: Higher ferritin and CRP levels as well as lower TIBC levels significantly predicted hepcidin levels in the study group, control group, and the entire sample. There was no significant difference in hepcidin levels between the patients and controls. Children with exacerbations had significantly higher hepcidin levels than those with stable disease. These findings support the serum hepcidin level as useful in assessing iron status in children with cystic fibrosis. It may also be useful in early detection and monitoring of treatment of exacerbations.

The effectiveness of Lactobacillus reuteri DSM 17938 as an adjunct to macrogol in the treatment of functional constipation in children. A randomized, double-blind, placebo-controlled, multicentre trial.

OBJECTIVE: Constipation is one of the most common problems among children, with a prevalence ranging from 7 to 30%. It is treated with defecation training and laxative medications. However, many patients do not respond to the standard therapy. There is, therefore, an increasing interest in probiotics for the treatment of functional constipation. STUDY DESIGN: The aim of this study was to assess the effectiveness of Lactobacillus reuteri DSM 17938 as an adjunct to macrogol in the treatment of functional, intractable constipation in children. A double-blind, placebo-controlled, randomized, multicentre trial involved a group of 129 children with functional constipation who were treated with a poor effect for at least two months prior to the study. Patients were randomly assigned to one of the two groups: 1. L. reuteri DSM 17938 and macrogol or 2. macrogol and matching placebo for 8 weeks. RESULTS: 121 patients completed the study. Almost all patients (119/129) increased their bowel movements in both groups (59 vs 60, ns.) and there was no statistically significant difference in the number of bowel movements per week in week 8 between the study and the placebo group (7.5±3.3 vs 6.9±2.5, respectively). Additionally, there were no significant differences between groups in the numbers of patients complaining of pain during defecation (13/47 vs 8/53), abdominal pain (19/41 vs 25/36), withholding stools (15/45 vs 13/48), passing hard stools (7/53 vs 3/58) or large stools (14/46 vs 12/49), and faecal incontinence (17/43 vs 11/50). CONCLUSION: L. reuteri DSM 17938 supplementation as an additional therapy to macrogol did not have any beneficial effect on the treatment of functional constipation in children aged 3-7 years.

Acute pancreatitis in children.

INTRODUCTION: The acute pancreatitis is a rare disease, but it has started to be diagnosed more often in children. AIM: The aim of the study was single-centre, retrospective analysis of the incidence, aetiology, and clinical course of acute pancreatitis in children. MATERIAL AND METHODS: We analysed the medical records of patients with acute pancreatitis hospitalised in the Gastroenterology Unit of the Paediatrics Department, Medical University of Silesia from Jan 2004 to Dec 2013. RESULTS: There were 76 cases of acute pancreatitis among 51 children (average age: 12.07 years) hospitalised in the Gastroenterology Unit between January 2004 and December 2013. The diagnosis of acute pancreatitis was performed on the basis of INSPIRE criteria and modified Atlanta classification. Patients were divided into groups: I - 1-12 years old, which included 20 (39.21%) children and II - 13-18 years old, with 31 (60.78%) children. The idiopathic aetiology was the most common cause of acute pancreatitis, occurring in 22 (43.1%) children, and in 15 cases the aetiology of the disease was biliary (29.4%). Genetically determined causes were diagnosed in 8 (15.7%) patients, the PRSS1 mutation in four patients, mutation in SPINK1 in 1 child, and CFTR gene mutation in 1 child. Two children simultaneously had two genes mutations (CFTR, SPINK1), and during the considered period had more than one episode of acute pancreatitis. CONCLUSIONS: Acute pancreatitis of idiopathic aetiology was most common among the examined children, and this should encourage the continued search for the causes of disease, especially genetic, and with particular emphasis on younger age group.

Evaluation of the infliximab therapy of severe form of pediatric Crohn's disease in Poland: Retrospective, multicenter studies.

BACKGROUND: Registration of infliximab in Poland has increased chances to induce clinical remission and mucosal healing in the severe form of pediatric Crohn's disease. OBJECTIVES: The aim of this retrospective study was to assess the results and safety of infliximab therapy in the severe form of pediatric Crohn's disease. MATERIAL AND METHODS: The study included 153 children with severe form of non-fistulizing Crohn's disease treated with infliximab. The clinical activity of Crohn's disease was assessed according to PCDAI scale, endoscopic scoring was graded according to SES-CD, body mass was measured with body mass index (BMI). Infliximab was administered at the dose 5 mg/kg body mass in the 0.2 and 6th week, and then, after clinical response, every 8 for the period of 12 months. RESULTS: One hundred thirty-six children (88.89%) achieved clinical response after induction therapy and 75.21% of children after the maintenance therapy. 39.68% of children achieved remission as graded with endoscopic scoring SES-CD. There was a statistically significant increase in body weight following the treatment. Side effects such as anaphylaxis, rash, and the activation of EBV infection appeared in 9 children at the time of infliximab injection. In other children the drug was well tolerated. CONCLUSIONS: Induction and maintenance therapy with infliximab resulted in clinical remission of Crohn's disease in 75.21% of children, and in the intestinal mucosa healing in 39.68% of children.

Induction and maintenance infliximab therapy in children with moderate to severe ulcerative colitis: Retrospective, multicenter study.

BACKGROUND: Pediatric ulcerative colitis (UC) is a severe disease characterised by the presence of extensive inflammatory lesions in the colon. The administration of intravenous corticosteroids is recommended in patients with acute relapse of the disease, whereas early treatment with cyclosporine, tacrolimus or infliximab is recommended if there is no improvement. OBJECTIVES: The aim of this study was to retrospectively evaluate the efficacy and safety of infliximab therapy in the treatment of moderate-to-severe and severe relapse of pediatric UC. MATERIAL AND METHODS: The analysis included 42 children aged 4-18 years (23 girls, 19 boys) treated in 7 pediatric gastroenterology departments in Poland during the past 4 years. The disease duration ranged from 2 to 100 months. The clinical activity of UC ranged from 35 to 85 points according to the PUCAI scale. Twenty-one children were diagnosed with pancolitis, 10 children with extensive UC, and the remaining with the left-sided UC. In the induction therapy infliximab was administered at doses of 5 mg/kg in the 0.2 and 6 weeks, and after the clinical response every 8 weeks to 12 months. Treatment results were assessed in 10 and 54 weeks. RESULTS: After the induction therapy the clinical response was achieved in 14 children (33.33%) and clinical remission in 11 children (26.19%). Two children required surgical treatment, and the remaining 2 suffered from anaphylactic shock. After the maintenance therapy clinical remission was maintained in 12 children (57.14%), whereas 3 children required surgery (colectomy). CONCLUSIONS: Infliximab therapy in children with moderate-to-severe UC induces remission and, in some children, proves to be effective in preventing early colectomy.

The concentration of calprotectin in the stools of children with diagnosed cystic fibrosis.

INTRODUCTION: Calprotectin is a protein that plays a regulatory role in inflammatory reactions as an antibacterial and antiproliferative factor. AIM: To assess the concentration of calprotectin in the stools of patients with diagnosed cystic fibrosis. MATERIAL AND METHODS: Forty-one patients were included in the study, 24 boys and 17 girls, aged from 7 weeks to 18 years. The concentration of calprotectin in stools was assessed with the ELISA method. The analysis included clinical symptoms and the results of laboratory tests and the type of mutation. RESULTS: An elevated level of calprotectin in the stool was observed in 4/41 (9.7%) patients, mainly in older children, and mainly delta F508/deltaF508 mutation. The correlation between the concentration of calprotectin and clinical symptoms, age, increased indicators of an inflammatory process, levels of protein and aminotransferases in blood serum and the values of acid steatocrit of the stool was not proven. CONCLUSIONS: High concentrations of calprotectin in the stools of children with diagnosed cystic fibrosis do not correlate with the level of advancement of lesions within the gastrointestinal tract. Elevated concentrations of calprotectin in the stools of patients with cystic fibrosis may indicate inflammation of intestine and should be further scrutinised.