Journal of Pediatric Gastroenterology and Nutrition最新文献

Objective: Intestinal transplantation (ITx) has become an accepted option for children with serious complications from intestinal failure and parenteral nutrition (PN) dependence. We aimed to assess long-term growth and nutritional outcomes in these patients. We also assessed factors influencing nutritional status and ability to wean off tube feedings (TFs) after ITx.

Methods: We looked retrospectively into post-ITx growth parameters, nutrition treatment, and micronutrient status for children who survived for 5 or more years after ITx. One hundred thirty-three children between 1993 and 2014 were involved. Descriptive data and growth parameters were collected over 15 years after ITx. We also analyzed influencing factors, including the presence of permanent stoma, prolonged use of steroids, partial gastrectomy at the time of ITx, developmental delay, concurrent visceral transplant, and graft rejection episodes.

Results: There was an increase in the height z-scores over the 15-year period post-ITx (p < 0.001). There was a downward trend in body mass index (BMI) z-scores over the 15-year post-ITx period. Isolated intestinal transplant patients showed a better height z-score compared to multivisceral transplant (p = 0.04). The height and BMI z-scores for patients on steroids were not significantly different from the z-scores for steroid-free patients (p = 0.72, 0.99, respectively). There was no significant change in height and BMI z-scores based on prednisolone dose: ≤0.2 mg/kg (p = 0.76); >0.2 mg/kg (p = 0.52). Patients were more likely to require supplemental TF up to 15 years post-ITx when they had partial gastrectomy (p < 0.001), permanent ostomy (p = 0.009), or developmental delay (p < 0.001).

Conclusions: There was improved long-term linear growth post-ITx. Developmental delay, partial gastrectomy, and a permanent ostomy are likely to delay TF wean post-ITx.

Primary sclerosing cholangitis (PSC) is a risk factor for cholangiocarcinoma. When a child is diagnosed with both PSC and inflammatory bowel disease (IBD), evidence-based information on counseling families and risk management of developing cholangiocarcinoma is limited. In this case series (PubMed/collaborators), we included patients with PSC-IBD who developed cholangiocarcinoma and contacted authors to determine an event curve specifying the time between the second diagnosis (IBD or PSC) and a diagnosis of cholangiocarcinoma. Review of n = 175 studies resulted in a cohort of n = 21 patients with pediatric-onset PSC-IBD-cholangiocarcinoma. The median time to development of cholangiocarcinoma was 6.95 years from the second diagnosis. Despite the small number, 38% of cholangiocarcinoma developed within the first 2 years, and 47% of patients developed cholangiocarcinoma in the transition period to adult care (age 14-25). Our findings highlight the importance of screening that extends over the so-called transition period from pediatric to adult care.

Blenderized tube feeding (BTF) uses a feeding tube to deliver blended whole foods directly to the gastrointestinal (GI) system and has had renewed interest over the last two decades. This was initially delivered in the form of homemade BTF (HBTF) and led to the development of commercial food-based formula (CFBF). The safety and clinical outcome data for CFBF are limited. From our systematic review of the clinical benefits of pediatric CFBF, we found that families are very satisfied with CFBF despite the paucity of research. Most included studies evaluated both HBTF and CFBF, with only a few evaluating CFBF alone. The limited data suggests that CFBF may improve upper and lower GI symptoms such as nausea, vomiting, retching, constipation, and diarrhea; however, the effects of CFBF on growth have been mixed.

Objectives: Wilson disease (WD) is an autosomal-recessive disorder that disrupts copper homeostasis. ATPase copper transporting beta (ATP7B) gene is implicated as the disease-causing gene in WD. The common symptoms associated with WD include hepatic, neurological, psychiatric, and ophthalmic manifestations. The genetic landscape of WD is under-investigated in the Middle East and has never been studied in Jordan. We aimed to investigate the genetic profile of several unrelated Jordanian families with one or more patients affected by WD.

Methods: Twenty-four Jordanian families with WD underwent clinical evaluation and genetic profiling by whole-exome and Sanger sequencing.

Results: Surprisingly, the same variant (ATP7B:c.3551C>T;p.Ile1184Thr) was identified, for the first time, exclusively in the homozygous state, in eight consanguineous unrelated families. Before our study, the previous classification of this variant was either of uncertain significance (VUS) or likely pathogenic (LP). Interestingly, the patients harboring this variant displayed variable clinical manifestations on both the intra- and interfamilial levels, as previously described in cases with WD. The age of diagnosis, hepatic manifestations, neuropsychiatric involvements, and Kayser-Fleischer ring occurrence varied significantly in terms of existence and severity among the recruited individuals. Following our investigation, based on clinical data and co-segregation analysis, we re-classified the variant ATP7B:c.3551C>T;p.Ile1184Thr from VUS/LP to pathogenic, for the first time. Besides, our genetic analysis helped in resolving diagnostic ambiguity by either establishing or ruling out the diagnosis of WD.

Conclusion: Since the identified variant (ATP7B:p.Ile1184Thr) was discovered in multiple unrelated families, we create an avenue for the potential consideration of this variant as a recurrent, or possibly a founder variant, in the Jordanian population. Our work sheds light, for the first time, on the molecular underpinnings of WD in Jordan and compiles the WD-causing variants in the Middle East. Ultimately, the findings of our work can guide designing region-specific targeted genetic testing of WD in Jordan and provide valuable insights to direct clinical decisions for atypical WD presentations.

Objectives: To compare the predictive value of serum bile acids on native liver survival (NLS) and portal hypertension (PH) at various time points early after portoenterostomy (PE) in biliary atresia (BA).

Methods: This was a retrospective observational study. Serum bilirubin and bile acid concentrations were defined by enzymatic spectrophotometry 1, 3, and 6 months after PE. After defining optimal bilirubin and bile acids cutoffs by area under the receiver operating characteristic (AUROC) curves, cutoffs were compared with other predictors of NLS and PH in Cox regression.

Results: Out of 56 patients, 42 (75%) achieved clearance of jaundice (COJ, bilirubin <20 µmol/L at 6 months). Both bilirubin and bile acids at 3 and 6 months were accurate predictors of NLS among all patients (AUROC 0.82-0.91, p < 0.001). In COJ patients, bile acids (AUROC 0.82, p = 0.003), but not bilirubin, at 1 month also predicted NLS. Among all patients, the strongest predictors of NLS were bilirubin >18.5 µmol/L and bile acids >150 µmol/L at 3 months, increasing the risk of transplantation/death seven- and eightfold, respectively (p < 0.001 for both). In COJ patients, the strongest predictor of NLS was bile acids >119 µmol/L at 3 months, increasing the risk of transplantation/death 12-fold (p = 0.014). Bile acids and bilirubin at 3 and 6 months predicted PH development in COJ patients with moderate accuracy (AUROC 0.72-0.78, p = 0.004-0.019). Bilirubin >8.5 µmol/L and bile acids >78 µmol/L at 6 months increased PH risk 13-fold (p < 0.001) and 4-fold (p = 0.006).

Conclusions: Serum bile acids offer a simple and useful additional tool to predict PE outcomes in BA, particularly after COJ.

Objectives: Cyclic vomiting syndrome (CVS) remains a diagnostic challenge due to its nonspecific presentation despite consensus-based diagnostic criteria. There is a need for improved, evidence-based diagnostic criteria. We hypothesized that symptoms differ quantitatively between children with CVS versus other vomiting conditions and that current diagnostic criteria are not sufficiently sensitive for diagnosing CVS.

Methods: Observational, prospective study of children ages 3-18 years with unexplained vomiting episodes evaluated in the outpatient gastroenterology clinic, emergency department, and inpatient units at Children's Wisconsin. Parents completed symptom surveys at 0, 3, and 6 months. Diagnostic workup and treatment response were monitored by chart review. A final diagnosis (CVS vs. non-CVS) was assigned for group comparisons and receiver operating characteristics (ROC) analysis of diagnostic cutoffs.

Results: Of 108 subjects enrolled, 46 CVS and 54 non-CVS patients were analyzed. The groups reported overall different episode frequencies with more CVS versus non-CVS (81% vs. 55%) having ≥4 episodes/preceding 12 months (p = 0.013). CVS patients also had longer vomiting episodes (p = 0.03). To distinguish CVS from non-CVS, ROC analyses demonstrated the highest sensitivity for a frequency of 4-10 episodes/12 months (p = 0.002) and a duration threshold of >2 h (p < 0.001). CVS patients reported specific episode characteristics: photophobia (p = 0.003), diaphoresis (p = 0.002), multiple emeses/hour (p = 0.001), stereotypical episodes (p = 0.008), and continued retching after gastric emptying (p = 0.008). Less than half of CVS patients met Rome IV and North American Society for Pediatric Gastroenterology, Hepatology & Nutrition diagnostic criteria.

Conclusions: Children with CVS display a distinctive vomiting pattern and clinical features compared to other vomiting conditions. Our findings will help improve current diagnostic criteria.

Objectives: To determine if after 2 years of consuming a gluten-free diet post celiac disease diagnosis, pediatric patients who were overweight or obese at diagnosis are less likely to normalize celiac disease serologies as compared with those who were normal weight or underweight at diagnosis. Secondary aims include characterizing how initial symptoms at presentation predict body mass index (BMI) change and serology improvement over the first 2 years of being on a gluten-free diet following diagnosis of celiac disease.

Methods: A retrospective chart review was performed that included all biopsy-proven celiac disease patients followed at Stony Brook Children's Hospital's Celiac Disease Center diagnosed between the years 2007-2022. This included all patients between 2 and 18 years of age who had their BMI documented at the time of diagnosis and at least one additional BMI documented 2 years ± 12 months after starting the gluten-free diet. Data collected included BMI and celiac serology at and 2 years ± 12 months after diagnosis as well as symptoms, sex, age, race, and ethnicity at diagnosis.

Results: The charts of 229 pediatric patients with Celiac Disease were reviewed. Out of 229 patients, 89 had BMIs and celiac serologies available at diagnosis and at 2-year follow-up which were included. Based on multivariable logistic regression model, patients with overweight or obese BMI at baseline were not less likely (odds ratio [OR] = 0.97, 95% confidence interval [CI]: 0.29-3.27) to normalize their celiac serologies at 2-year follow-up visit as compared with patients who were normal weight or underweight at baseline. Patients with GI symptoms at diagnosis were more likely (OR = 3.86, 95% CI: 1.29, 11.54) to normalize their celiac serologies at 2-year follow-up visit as compared with patients without GI symptoms at diagnosis.

Conclusions: Rate of normalization of celiac serologies 2 years after initiating a gluten-free diet showed no difference between the overweight or obese and normal weight or underweight pediatric populations. However, patients with GI symptoms at diagnosis were more likely to normalize their celiac serologies by 2-year follow-up visit, suggesting they may be more likely to comply with the gluten-free diet.

Objectives: The PRASCO trial reported the short-term superiority of an antibiotic cocktail plus intravenous corticosteroids (IVCS) over IVCS alone in children with acute severe colitis (ASC). Here, we report the extension of the PRASCO trial and the long-term outcomes of the antibiotic cocktail in ASC.

Methods: This prospective follow-up of the PRASCO trial documented disease outcomes and treatments annually through 5 years. The primary outcome was colectomy, and the secondary outcome was escalation to biologics, analyzed descriptively.

Results: A total of 26 children were included (12 receiving IVCS and 14 receiving IVCS + antibiotics), 19% of whom underwent colectomy during the follow-up period. The estimated probability of colectomy at 3, 6, and 12 months from admission were 7.1%, 7.1%, and 21% with IVCS + antibiotics and 0%, 8.3%, and 17% with IVCS. No children required colectomy after the first year of follow-up. The estimated probability of escalating to biologics were 66%, 77%, and 77% after 1, 2, and 3 years with IVCS + antibiotics and 42%, 51%, and 76% with IVCS. Clinical remission was higher in the IVCS + antibiotics group at each timepoint (e.g., 30% vs. 11% at 5-years). Delta of Pediatric Ulcerative Colitis Activity Index (PUCAI) score from baseline to day three of admission predicted future escalation to biologics (area under curves (AUC) 0.84 [95%CI 0.59-1.0]).

Conclusion: While adding antibiotics to IVCS may provide better short-term outcomes, the long-term benefits were comparable to IVCS alone. At 5 years, about one-fifth of children had undergone colectomy, and almost four-fifths had escalated to biologics, particularly during the first year after admission.

Objectives: Patients with Peutz-Jeghers syndrome (PJS) require continuous medical management throughout their lives. However, few case series regarding the clinical course, polyp surveillance, and treatment, including endoscopic ischemic polypectomy (EIP) for pediatric patients with PJS, were reported. We analyzed the current status and clinical course of pediatric patients with PJS under the management of our institute, including those treated with EIP.

Methods: Medical information on double-balloon enteroscopy (DBE) performed between January 2006 and December 2023 and patient backgrounds were retrospectively collected. The location of polyps, breakdown of treatment methods, and differences in complication rates of each treatment method were analyzed.

Results: The median age at diagnosis of PJS was 9 years (0-18 years), and the prevalence of intussusception before the first DBE among the patients was 68.2%. In total, 115 procedures were performed in 22 pediatric patients with PJS. There were 100 therapeutic procedures, and the total number of treated polyps was 462 (362, 54, and 46 in the small bowel, colon, and stomach, respectively). Conventional polypectomy was performed for 106 polyps, and ischemic polypectomy was performed for 356 polyps. The incidence rates of post-polypectomy bleeding and perforation associated with conventional polypectomy and EIP were 2.83% and 0.28%, respectively (p = 0.042). Eight patients (36.4%) had polyps larger than 15 mm under the age of 8 years.

Conclusions: Proper imaging evaluation and endoscopic treatment for gastrointestinal (GI) polyps are essential to prevent GI complications in pediatric patients with PJS, even those younger than 8 years old. Moreover, EIP may be the ideal procedure for managing polyps in this population.