Pediatric Gastroenterology, Hepatology & Nutrition最新文献

Congenital diarrheal disorders (CDDs) with genetic etiology are uncommon hereditary intestinal diseases characterized by chronic, life-threatening, intractable watery diarrhea that starts in infancy. CDDs can be mechanistically divided into osmotic and secretory diarrhea. Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia, is a type of secretory CDD. CTE is a rare autosomal recessive enteropathy that presents with intractable neonatal-onset diarrhea, intestinal failure, severe malnutrition, and parenteral nutrition dependence. Villous atrophy of the intestinal epithelium, crypt hyperplasia, and irregularity of surface enterocytes are the specific pathological findings of CTE. The small intestine and occasionally the colonic mucosa include focal epithelial tufts. In 2008, Sivagnanam et al. discovered that mutations in the epithelial cell adhesion molecule (EpCAM, MIM# 185535) were the genetic cause of CTE (MIM# 613217). More than a hundred mutations have been reported to date. Furthermore, mutations in the serine peptidase inhibitor Kunitz type 2 (SPINT2, MIM# 605124) have been linked to syndromic CTE. In this study, we report the case of a 17-month-old male infant with congenital diarrhea. Despite extensive etiological workup, no etiology could be established before admission to our center. The patient died 15 hours after being admitted to our center in a metabolically decompensated state, probably due to a delay in admission and diagnosis. Molecular autopsy with exome sequencing revealed a previously reported homozygous missense variant, c.757G>A, in EpCAM, which was confirmed by histopathological examination.

Purpose: Recently, great interest has been focused on dietary fermentable oligosaccharides, disaccharides, monosaccharides, and polyols (FODMAPs) for the treatment of functional abdominal pain (FAP). Several meta-analyses, including those on the adult population, have been published, potentiating its role. However, pediatric studies are scarce. We aimed to evaluate the effect of a low-FODMAP diet on the severity of FAP in children.

Methods: This clinical trial included 50 patients aged 3-18 years with irritable bowel syndrome and FAP that were not otherwise specified. The patients were instructed to receive a low FODMAP diet guided by a dietitian. The primary outcome was the percentage of responders after 2 months of dietary intervention compared with baseline. Other outcomes included changes in stool consistency and quality of life (QoL) scores using the KIDSCREEN-10 questionnaire, and weight-for-age z-scores.

Results: After the dietary intervention, 74% of patients showed more than 30% lower pain intensity, as examined using the Wong-Baker Faces pain rating scale. Their QoL significantly improved, and patients have gained weight.

Conclusion: A low FODMAP diet can improve pain intensity and QoL among children with functional abdominal pain, with no detrimental effects on body weight.

Functional gastrointestinal disorders (FGIDs) are classified as a combination of persistent gastrointestinal symptoms. The Rome IV criteria can elucidate several factors in the pathogenesis of FGIDs. The frequency of FGIDs can differ between clinical and nonclinical settings and between geographic regions. To determine the global prevalence of FGIDs in neonates and toddlers according to the Rome IV criteria. We included cohort and descriptive observational studies reporting the prevalence of FGIDs according to the Rome IV criteria in children aged 0-48 months. We searched the Medline, Embase, Lilacs, and CENTRAL databases from May 2016 to the present day. Furthermore, unpublished literature was searched to supplement this information. The Strengthening the Reporting of Observational Studies in Epidemiology statement was used to evaluate the risk of bias. A meta-analysis of the proportions was performed using MetaProp in R. The results are reported in forest plots. We identified and analyzed 15 studies comprising 48,325 participants. Six studies were conducted in Europe, three in Latin America, two in North America, and four in Asia. Most participants were 12-48 months old (61.0%) and were recruited from the community. The global prevalence of FGIDs was 22.0% (95% confidence interval, 15-31%). The most common disorder was functional constipation (9.0%), followed by infant regurgitation syndrome (8.0%). Its prevalence was higher in the Americas (28.0%). FGIDs, as defined by the Rome IV criteria, are present in 22% of children, and the most common primary disorder is functional constipation. A higher prevalence of FGIDs has been reported in America.

[This corrects the article on p. 276 in vol. 25, PMID: 35611375.].

Purpose: Data on eosinophilic esophagitis (EoE) in South America is scarce. Moreover, no studies are available in Ecuador. We evaluated the clinical, endoscopic, and histological characteristics of Ecuadorian children with EoE.

Methods: Medical records of 2,711 children who underwent upper gastrointestinal endoscopy (UGE) between 2009 and 2020 at Hospital Metropolitano de Quito, Ecuador were reviewed. Esophageal mucosal biopsies were obtained from 72 patients and the features of 35 children with EoE were described. EoE was diagnosed when there were more than 15 eosinophils in the esophagus, per high power field.

Results: EoE was diagnosed in 35 children (9.4±4.5 years) with a male predominance (74%). Abdominal pain (51.4%) and vomiting (31.4%) were dominant symptoms. A history of allergic diseases was noted in 47.1% of the children, which mainly included allergic rhinitis (37.1%) and atopic dermatitis (11.4%). The most common endoscopic findings were furrowing (82.9%) and edema (74.3%). All patients were initially treated with proton-pump inhibitors (PPIs). Those who did not respond to PPIs received steroids (5.7%) and diet therapy (5.7%), and five patients were referred to an allergist. Clinical and histological resolution was observed in 65% of the patients who underwent a second UGE after 6-8 weeks of PPI.

Conclusion: Our study describes the clinical features of pediatric EoE in Ecuador. This is the first retrospective study in Ecuador that describes the clinical, endoscopic, and histological manifestations of EoE in a small pediatric population. Almost half of the children who underwent a biopsy had EoE.

Purpose: The prevalence of eosinophilic esophagitis (EoE) has been on the rise since it was first described in the 1990s. Several diseases and exogenous factors have been associated with EoE. Our aim was to investigate the epidemiology of EoE in cystic fibrosis (CF) patients.

Methods: We identified individuals with CF from September 2014 to September 2019 within a database (IBM Explorys Solutions, Inc.). The prevalence of EoE in patients with CF was compared to the general population.

Results: The database included 36,111,860 patients during the 5-year study period: 12,950 with CF (0.036%) and 28,090 with EoE (0.078%). EoE prevalence was higher in CF patients than the general population (46 in 10,000 vs. 7.8 in 10,000, p<0.001). Patients with CF and EoE were more likely to be male (50% vs. 33.5%, p<0.008), children (33.3% vs. 16.5%, p<0.001), and non-Hispanic (100% vs. 88.7%, p<0.001) than CF patients without EoE. CF with EoE patients were more likely to be children than EoE only (33.3% vs. 10.5%, p<0.001). Allergic conditions were generally more prevalent in CF with EoE than CF only (83.3% vs. 68.3%, p=0.01) and EoE only (83.3% vs. 69.3%, p=0.014).

Conclusion: EoE is nearly 6-times more prevalent in CF patients. Those patients had higher incidence of other atopic conditions. EoE must be considered in the differential diagnosis of patients with CF presenting with dysphagia, refractory gastroesophageal reflux, vomiting, and other esophagus-related symptoms.

Purpose: This study aimed to assess the quality of life (QoL) of children with glycogen storage disease (GSD) and their parents and to determine the impact of myopathies.

Methods: A prospective case-control study was conducted at the Cairo University Children's Hospital and National Liver Institute, Menoufia University. A promising new style of questionnaire called the Stark Quality of Life Questionnaire was used to assess the quality of life.

Results: Fifty-two children diagnosed with GSD (cases) and 55 age- and sex-matched healthy children (controls) were included. A statistically significant difference was found between cases and controls regarding food intake; mental behavior parameters such as mood, energy, and social contact; and physical behavior parameters such as running and tying shoelaces. Children with myopathies had significantly lower QoL scores in most of the parameters.

Conclusion: GSDs alter children and their parents' mental and physical abilities. Lower QoL scores were detected in children with both skeletal myopathy and cardiomyopathy, but the difference was not statistically significant when compared with the children without myopathies.

Purpose: Screening serologic tests are important tools for the diagnosis of celiac disease (CD). Immunoglobulin (Ig)G anti-deamidated gliadin peptide (anti-DGP) is a relatively new autoantibody thought to have good diagnostic accuracy, comparable to that of anti-tissue transglutaminase (anti-tTG) antibody.

Methods: Pediatric patients (n=86) with a clinical suspicion of CD were included. Duodenal biopsy, anti-tTG, and IgG anti-DGP antibody tests were performed. The patients were divided into CD and control groups based on the pathological evaluation of duodenal biopsies. The diagnostic accuracy of serological tests was determined.

Results: IgA anti-tTG and IgG anti-DGP antibodies were positive in 86.3% and 95.4% of patients, respectively. The sensitivity, specificity, and diagnostic accuracy of the IgA anti-tTG test were 86.3%, 50.0%, and 68.6%, respectively, and those of the IgG anti-DGP test were 95.4%, 85.7%, and 90.7%, respectively. The area under the receiver operating characteristic (ROC) curve was 0.84 (95% confidence interval [CI], 0.74-0.91) for IgA anti-tTG test and 0.93 (95% CI, 0.86-0.97) for IgG anti-DGP test. The comparison of IgA anti-tTG and IgG anti-DGP ROC curves showed a higher sensitivity and specificity of the IgG anti-DGP test.

Conclusion: IgG anti-DGP is a reliable serological test for CD diagnosis in children. High tTG and DGP titers in the serum are suggestive of severe duodenal atrophy. The combined use of IgA anti-tTG and IgG anti-DGP tests for the initial screening of CD can improve diagnostic sensitivity.

Purpose: Although endoscopic retrograde cholangiopancreatography (ERCP) has been used for more than five decades, its applicability in Bangladeshi children has recently become more common. Therefore, this manuscript aims to describe our experience in performing ERCPs in Bangladeshi children with hepatopancreaticobiliary diseases, focusing on presenting diseases, as well as the diagnostic and therapeutic efficacy.

Methods: Between 2018 and 2021, 20 children underwent 30 ERCP procedures at the Bangladesh Specialized Hospital, Dhaka. A single trained adult gastroenterologist performed all procedures using a therapeutic video duodenoscope. The indications for ERCP, diagnostic findings, therapeutic procedures, and complications were documented.

Results: The median age of the study patients was 10 years (range, 1.7-15 years). Successful cannulation of the papilla was achieved in 28 procedures and failed in 2 cases. Repeated ERCP was required in seven patients. Nine patients had biliary indications and 11 had pancreatic indications. Choledocholithiasis was the most common indication for ERCP in patients with biliary disease, while chronic pancreatitis was common among patients with pancreatic indications. Pancreatic divisum was observed in only one patient. Pancreatic and biliary sphincterotomy was performed in 14 and 9 cases, respectively. A single pigtail or straight therapeutic stent was inserted in seven cases and removed in five cases. Stone extraction was performed in six procedures, and balloon dilatation was performed in five procedures. The post-procedural period for these patients was uneventful.

Conclusion: We found that ERCP is a practical and successful therapeutic intervention for treating hepatopancreaticobiliary disorders in children when performed by experienced endoscopists.