JPGN reports最新文献

{"title":"Biochemical testing and pathology reveal rare cause of pediatric acute liver failure: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.","authors":"Tierra L Mosher, Kathryn S Czepiel, Matthew B Neu, Andrea Carolina Cortes Fernandez, L Walden Browne, Annie D Niehaus, Roberto Gugig","doi":"10.1002/jpr3.70206","DOIUrl":"10.1002/jpr3.70206","url":null,"abstract":"<p><p>Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare metabolic condition that can cause lethargy, ataxia, tachypnea, nausea, vomiting, seizures, coma, and acute liver failure. We present a 26-month-old female with acute liver failure who was diagnosed with HHH 1 week after admission. Histology revealed an acute hepatitic pattern of liver injury with numerous acidophils and glycogenated nuclei without zonal distribution, the former a rarely discussed feature. Acute management included intravenous dextrose and intralipids, with chronic management requiring a protein-restricted diet, glycerol phenylbutyrate for nitrogen scavenging, and citrulline supplementation to support the urea cycle. This case contributes to our growing understanding of the phenotypic presentation of HHH, a rare genetic cause of liver failure not included on newborn screening but with specific treatment implications. We also highlight the importance of collecting biochemical genetics labs and liver biopsy early in the disease course and discuss how a patient's voluntary self-restriction of protein can offer helpful clues in the diagnostic evaluation.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13403024/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148611601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gamma-glutamyltransferase and immunoglobulin G in intestinal maturation: Pilot study in preterm and term infants and the influence of breast milk.","authors":"Johanna Jakobs, Teresa Riedl-Seifert, Franziska Jakobs, Markus Waitz, Andreas Jenke","doi":"10.1002/jpr3.70215","DOIUrl":"10.1002/jpr3.70215","url":null,"abstract":"<p><p>Gamma-glutamyltransferase (γGT), a key enzyme in glutathione metabolism, is abundant in colostrum and may indicate neonatal gastrointestinal maturation, although normative serum values and associations with breast milk intake remain unclear, particularly in preterm infants. In this prospective study, serum γGT was measured in 84 neonates, including 36 born before 32 weeks' gestation and 48 born at or after 32 weeks, across the first 4 postnatal weeks. Breast milk γGT was analyzed in samples from 107 mothers, and correlations with colostrum intake were assessed in 66 neonates. Serum γGT remained relatively stable (110-130 U/L). Preterm infants receiving colostrum had higher γGT in Week 1 than non-exposed infants, although not conventionally significant, and lower values by Week 4 (138.7 vs. 91.7 U/L, <i>p</i> = 0.056; Week 4, <i>p</i> = 0.027). Week-1 breast milk intake correlated with serum γGT across all 4 weeks in preterm infants (<i>p</i> = 0.007, 0.001, 0.003, 0.022).</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13403025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148611583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric <i>Clostridiodes difficile</i> infection with toxic megacolon successfully treated with fecal microbiota transplantation.","authors":"Dana McCarney, Pamela Chen, Jenna Simes, Stacy A Kahn","doi":"10.1002/jpr3.70209","DOIUrl":"10.1002/jpr3.70209","url":null,"abstract":"<p><p>The rising incidence of pediatric <i>Clostridioides difficile</i> infection (CDI), particularly in medically complex patients, calls for novel, individualized treatments. While fecal microbiota transplantation (FMT) is well-described for recurrent CDI, this report describes the first pediatric case of fulminant CDI with toxic megacolon successfully treated with FMT. This critically ill patient experienced failure of standard-of-care antibiotics and was a poor surgical candidate due to neutropenia and abdominal radiation for rhabdomyosarcoma. Ultimately, FMT rapidly resolved the patient's symptoms without adverse events. FMT should be considered for pediatric fulminant CDI.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13403027/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148611513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A hepatic enigma: Pediatric presentation of primary biliary cholangitis.","authors":"Sindhura Kasturi, Rachel Schenker, Nick Shillingford, George Yanni","doi":"10.1002/jpr3.70210","DOIUrl":"10.1002/jpr3.70210","url":null,"abstract":"<p><p>Primary biliary cholangitis (PBC) is a chronic autoimmune condition characterized by destruction of intrahepatic bile ducts, leading to fibrosis and cirrhosis of the liver. It is an extremely rare pediatric disease with very few pediatric cases reported to date. Here, we report the case of a 14-year-old female who presented with elevated liver enzymes and was subsequently diagnosed with PBC. Our case raises awareness of the possibility of PBC in children.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13403022/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148611530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The 'Cross-Trust' Histopathology Multidisciplinary Team: Report of meeting outputs and impact on paediatric inflammatory bowel disease management in a UK tertiary centre.","authors":"Valeria Dipasquale, Alenka J Brooks, Marta Cohen, Jonathan Bury, Akshay Kapoor, Priya Narula","doi":"10.1002/jpr3.70201","DOIUrl":"10.1002/jpr3.70201","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the outputs and clinical impact of a Cross-Trust Histopathology Multidisciplinary Team (MDT) created to support diagnostic clarification and management of complex paediatric inflammatory bowel disease (IBD) cases, particularly during transition to adult services.</p><p><strong>Methods: </strong>A retrospective review of eight MDT meetings held from January 2021 to March 2024 was performed. Patients were included if referred for diagnostic uncertainty, complex disease behaviour or transition planning. Extracted data included demographics, reason for referral, MDT-agreed diagnosis, therapeutic recommendations and transition-related decisions.</p><p><strong>Results: </strong>Twenty-seven patients (mean age 17.2 years; range: 14-21) were discussed. Diagnostic clarification was the primary referral reason. Following MDT review, 11 patients (41%) had a change in diagnosis, including reclassification of IBD-unclassified to ulcerative colitis (<i>n</i> = 7) or Crohn's disease (<i>n</i> = 3). One patient was reclassified as having non-IBD (disuse colitis). Management recommendations changed in three patients (11%), including biologic initiation or escalation. One patient (4%) had a modification to their transition pathway. MDT outputs were uploaded into the paediatric electronic health record in only three cases (11%).</p><p><strong>Conclusion: </strong>The Cross-Trust Histopathology MDT improved diagnostic precision in complex paediatric IBD and influenced management in selected cases. The model supports harmonized interpretation across paediatric and adult services and promotes safer transition planning. Documentation of MDT outcomes remains an area for improvement. Wider adoption of similar collaborative frameworks may enhance diagnostic consistency and optimize care for adolescents with IBD.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13398915/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Proactive therapeutic drug monitoring of infliximab leads to treatment durability in paediatric Crohn's disease: A single-centre Australian experience.","authors":"Cher Wei Chuah, Jessica Eldredge, Annabel Magoffin, Edward Vincent O'Loughlin, Calvin Joomann Park, Juliana Puppi, Susan Siew, Michael Stormon, Kunal Thacker, Shoma Dutt","doi":"10.1002/jpr3.70208","DOIUrl":"10.1002/jpr3.70208","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the durability and predictors of loss of response of infliximab (IFX) over 2 years in paediatric Crohn's disease (CD) utilizing a proactive therapeutic drug monitoring (TDM) strategy.</p><p><strong>Methods: </strong>A retrospective, single-centre cohort study was conducted at The Children's Hospital at Westmead (CHW), Australia, from January 2019 to December 2021. Proactive TDM was performed at induction, end of induction and 6-monthly thereafter. The primary outcome was switching to a different biologic as a marker of treatment failure. Secondary outcomes of a physician global assessment (PGA) scale, calprotectin, albumin and C-reactive protein (CRP) levels were collected at induction, end of induction, 1-year and 2-year timepoints.</p><p><strong>Results: </strong>Seventy-nine patients were included (62% male, median age 13 years). Durability was 96% at 1 year and 88% at 2 years. Nine patients switched biologics with a median time of 57 weeks. Predictors of therapy failure included the need for escalated induction (odds ratio [OR] 8.5, <i>p</i> = 0.01) colonic phenotype (OR 9.7, <i>p</i> < 0.01), and post-induction calprotectin level above 305 μg/g (positive predictive value 36%) were identified.</p><p><strong>Conclusions: </strong>Utilizing a proactive TDM results in excellent durability of IFX at 2 years in paediatric CD. Colonic phenotype is an independent predictor for IFX failure, highlighting the need for directed therapy.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13395550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148581987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vitamin B12 deficiency in an infant secondary to nutritional deficiency and an inadequate maternal diet.","authors":"Sandra Sala-Lluch, Nerea Mesas-Vila, Susana Ferrando-Monleón, Ana Barrés-Fernández, Cristina Villar-Vera, José Vicente Arcos-Machancoses","doi":"10.1002/jpr3.70200","DOIUrl":"10.1002/jpr3.70200","url":null,"abstract":"<p><p>Vitamin B12 (cobalamin, Cbl) is an essential micronutrient for DNA synthesis and neurological development. Its deficiency in infants, although infrequent in developed countries, can cause megaloblastic anemia, psychomotor delay, and neurological damage that may become irreversible if not treated early. We present the case of a 16-month-old infant, breastfed with partial refusal of solid foods, whose mother followed a diet poor in animal products and had low levels of Cbl in breast milk. The patient consulted for fever and somnolence, with clinical findings of hypotonia, global developmental delay, and pancytopenia. Laboratory workup confirmed severe Cbl deficiency with hyperhomocysteinemia and elevated methylmalonic acid. Congenital and malabsorptive causes were excluded. Intramuscular Cbl therapy led to rapid hematological and neurological improvement, together with nutritional support adapted due to cow's milk protein allergy. This case highlights the importance of early detection and adequate supplementation in at-risk mothers and infants.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13395026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148581971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of single-use ultra-slim endoscopes for evaluation of pediatric esophageal varices: A pilot feasibility study.","authors":"Vishruti Patel, Evan Greenhall, Eric Dybbro, Sheetal Wadera, Joel A Friedlander, Shauna Schroeder, Paul Tran","doi":"10.1002/jpr3.70220","DOIUrl":"10.1002/jpr3.70220","url":null,"abstract":"<p><p>Esophageal varices (EV) need monitoring in patients with portal hypertension. In 2022, a single-use ultra-slim (3.5 mm) gastroscope was approved for use in children and adults. This study evaluated if an ultra-slim gastroscope could evaluate, grade, and corroborate the presence of EV in sedated pediatric patients as compared to standard oral gastroscopes (>8.6 mm). Ten pediatric subjects with suspected or known EV underwent surveillance endoscopy using the ultra-slim endoscope followed by the standard gastroscope under sedation. Esophageal findings were analyzed using images from both procedures by two independent endoscopists. Visual findings for the presence or absence of EV had 100% congruence. EV were identified in 8/10 subjects (Grade I (4), Grade II (3), and Grade II/III (1)). Endoscopic grading matched between both endoscopes in 7/8 (87.5%) cases. Ultra-slim and standard gastroscopes showed reliable visual agreement and could be used similarly in certain clinical settings to evaluate EV.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13398471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rectal stump management in paediatric ulcerative colitis-An international survey for the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition PORTO Inflammatory Bowel Disease group study.","authors":"Beth Gordon, Sarah Cooper, Billy Bourke, Séamus Hussey","doi":"10.1002/jpr3.70198","DOIUrl":"10.1002/jpr3.70198","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate current international clinical practice in the assessment and management of rectal stump disease activity following colectomy in paediatric ulcerative colitis (UC).</p><p><strong>Methods: </strong>A web-based survey comprising 18 questions was distributed to paediatric gastroenterologists via European Porto inflammatory bowel disease (IBD) interest group and North America and the United Kingdom pediatric inflammatory bowel disease (PIBD) network groups over 6 months. The questionnaire recorded centre demographics, colectomy practices, rectal stump assessment methods, and management approaches. Responses were analysed using descriptive statistics with subgroup analysis by continent and centre size.</p><p><strong>Results: </strong>Eighty paediatric gastroenterologists from 24 countries completed the survey. Most centres (<i>n</i> = 62, 78%) reported fewer than five colectomies annually, with 59% indicating that all patients retained a rectal stump for at least 3 months post-colectomy. Only 11% of centres had a formal protocol for rectal stump management. Clinical assessment tools varied, with 39% using none, and the remainder favouring Pediatric Ulcerative Colitis Activity Index (PUCAI) or Physician's Global Assessment. Frank rectal bleeding and painful rectal discharge were rated as the most significant symptoms. Endoscopy and histology were the most common investigations. Rectal therapy was the preferred first-line treatment for rectal stump disease recurrence, followed by systemic therapy and observation. There was wide variation in estimates of rectal disease activity at 6 months post-colectomy.</p><p><strong>Conclusions: </strong>There is considerable international variation and lack of standardisation in the management of rectal stump disease in paediatric UC. These findings underscore the need for evidence-based guidelines and collaborative research to optimise care for this understudied population.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13394627/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148581958","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Delayed diagnosis of hereditary fructose intolerance presenting as chronic lean steatosis in an adolescent.","authors":"Alexandra Hurlock, Melissa Lah, Hannah Sue Hyaduck, Jean P Molleston, Chaowapong Jarasvaraparn","doi":"10.1002/jpr3.70197","DOIUrl":"10.1002/jpr3.70197","url":null,"abstract":"<p><p>Hereditary fructose intolerance (HFI) typically presents in infancy with acute metabolic crisis upon the introduction of fructose. We report a case of a 13-year-old female with chronic abdominal pain, short stature, and persistent mild transaminitis. Despite a late presentation, hepatic steatosis was identified on ultrasound and biopsy. Genetic testing confirmed a homozygous pathogenic ALDOB variant. This case illustrates that self-imposed dietary avoidance can mask classic HFI symptoms, leading to a delayed diagnosis of \"lean\" hepatic steatosis in adolescence.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13398793/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148586456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}