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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). SLC26A3is 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.

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). SLC26A3is 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.

Nonalcoholic fatty liver disease (NAFLD) is the main cause of chronic liver disease in children. With the global obesity epidemic, the prevalence of NAFLD is increasing both in industrialized and developing countries. NAFLD is a multisystem disorder and a hepatic manifestation of the metabolic syndrome. Growing scientific evidence suggests that NAFLD is an independent risk factor for cardiovascular disease. This paper briefly describes the current knowledge concerning the association between NAFLD and cardiac dysfunction in children.

The aim of this study was to compare the clinical efficacy and tolerance of polyethylene glycol 3350 (PEG) and lactulose for the treatment of functional constipation in infants and children. This randomized, multicenter study covered 12 weeks of treatment and 4 weeks of follow-up of patients with functional constipation. Patients were randomized (central randomization) to receive either PEG or lactulose. The primary end points were the number of defecations per week after 12 weeks of treatment and improvement in stool consistency of at least 2 points in the Bristol scale. The secondary end point was the presence of adverse events. Bowel movements =3 per week and stool consistency =2 (Bristol scale) were considered as successful treatment. We enrolled 102 patients (M 57, F 45) aged 3.62 ± 1.42 years and 88 completed the study. At week 12, good clinical outcome was achieved in 98% (PEG) and 90% (lactulose). The PEG group had more defecations per week compared with the lactulose group (7.9 ± 0.6 vs 5.7 ± 0.5, P= 0.008) and both groups had similar frequency of defecation with pain (5% vs 5%, P= 0.9), stool retention (7% vs 10%, P= 057), large volume of stools (30% vs 31%, P= 0.9) and hard stools (7% vs 13%, P= 0.58). There were more patients with side effects in the lactulose group (15 vs 23, P= 0.02), mostly bloating and abdominal pain. PEG 3350 is more effective and causes fewer side effects than lactulose in the treatment of constipation in infants and children.

•Incidence of gallstone disease in children is on the rise.•Risk is influenced by an unhealthy lifestyle and obesogenic environment.•Children with gallstone disease often suffer from obesity or being overweight.•Due to the obesity epidemic among youths, an increase in gallstone-related complications can be anticipated at younger ages.

It is known that certain patients with very early onset IBD (diagnosis before 6 years of age) have a higher possibility of immune deficiency with monogenetic aetiology. The growing prevalence of these types of disorders forces the gastroenterologist to gain some knowledge about the symptoms and further diagnostic management, which includes consultation with the clinical immunologist. The resemblance of the clinical manifestation of early-onset Crohn's disease with ulcerative colitis and high incidence rate of unclassified IBD suggests caution in IBD diagnosis in younger patients.

Gastrointestinal tract duplications are rare congenital lesions. They can occur anywhere from the mouth to the anus with a reported incidence of 1 in 18.00 to 1 in 4500 live births. Duodenal duplication cysts represent 2–12% of all duplications. Authors present the case of 5-month-old boy admitted to Pediatric Surgery Department with the symptoms of mechanical obstruction of alimentary tract and gastrointestinal bleeding (melena). US of the abdomen was suggestive of stenosis of pyloric muscle. CT scan provided correct, definite diagnosis of the duplication cyst of the duodenum. The diagnosis was confirmed during surgery and by histopathology examination, which revealed the presence of ectopic pancreatic tissue within the duplication cyst. In the presented case, it was sufficient to excise the duplication cyst alone with the stripping of the mucosal lining. Closed approach allowed for effective relief of obstruction, a rapid postoperative recovery, and the early reinstitution of feeding after 24h. Duodenal duplication cysts are rare, and some of them can be detected after significant growth with development of compressive symptoms; concern about malignant change makes surgery and complete excision, the preferred method of treatment; because they are unique entities, the surgeon should be familiar with the anatomy and clinical characteristics of these lesions.

Introduction:More than 100 million people worldwide are infected with hepatitis C virus (HCV), which is responsible for chronic liver disease accompanied by progressive fibrosis of hepatic tissue, often leading to liver cirrhosis. Novel therapeutic options are able to clear the virus in almost all diagnosed patients. However, even after successful treatment, hepatic fibrosis may persist in many of them. There is no registered therapy specific for liver fibrosis, but numerous molecules are currently in development.Areas covered:In this review, the authors look at drugs in early development for the treatment of HCV-related hepatic fibrosis. Their mechanism of action is based on the inhibition of hepatic inflammation, the modulation of cellular sources of extracellular matrix (ECM), the stimulation of ECM degradation and prevention of collagen crosslinking. Importantly, significant antifibrotic effects have been demonstrated with both IFN-based and IFN-free anti-HCV regimens.Expert opinion:Successful future therapy is likely to be based on sequential administration of drugs leading initially to HCV clearance, followed by treatment for the possible reversal of liver fibrosis. The primary consideration with clinical trials carried out in patients with advanced liver disease is safety. Indeed, the evaluation of anti-fibrotic therapy depends on reliable noninvasive techniques for quantification of liver fibrosis, such as transient or shear-wave elastography or serologic tests which are able to replace liver biopsy.

Praca stanowi podsumowanie ankiety przeprowadzonej w ramach programu PEGAZ realizowanego Polsce w 2007 r.

Introduction. Interleukin-18 (IL-18) is a proinflammatory cytokine associated with metabolic syndrome (MS). Nonalcoholic fatty liver disease (NAFLD) can be recognized as a feature of MS. Material and Methods. Serum IL-18 concentration was evaluated in serum of 108 obese children, determined with ELISA, and referred to degree of liver steatosis in USG or total intrahepatic lipid content assessed by magnetic resonance proton spectroscopy (1HMRS). Results. Fatty liver was confirmed in 89 children with USG and in 72 with 1HMRS. IL-18 concentration demonstrated significantly higher values in patients than in controls. Significant correlations between IL-18 and ALT, GGT, triglycerides, hsCRP, and the degree of liver steatosis were demonstrated. NAFLD children had significantly higher level of IL-18, ALT, GGT, HOMA-IR, waist circumference, and total lipids content in 1HMRS than other obese children. IL-18 level was also significantly higher in obese children with advanced liver steatosis. Measurement of serum IL-18 showed ability to differentiate children with fatty liver from those without steatosis. Conclusion. Elevated serum IL-18 concentration and its correlation with hepatocyte injury, systemic inflammation, and degree of liver steatosis support role in NAFLD pathomechanism. IL-18 can be considered to play a role in predicting advanced liver steatosis and fatty liver in obese children.

Long-term studies on the evolution of elevated total IgE (tIgE) concentration are in demand.