JPGN reports最新文献_第2页

A rare diagnosis during evaluation for metabolic dysfunction associated steatotic liver disease: Glycogen storage disease type Ia presenting during adolescence in a male with severe obesity. 在评估代谢功能障碍相关脂肪变性肝病时的罕见诊断：在青春期出现严重肥胖男性的糖原储存病Ia型。

JPGN reports Pub Date : 2026-10-23 DOI: 10.1002/jpr3.70247

Carolena Trocchia, Rachel Herdes, Jodi Gedallovich, Amrita Narang

{"title":"A rare diagnosis during evaluation for metabolic dysfunction associated steatotic liver disease: Glycogen storage disease type Ia presenting during adolescence in a male with severe obesity.","authors":"Carolena Trocchia, Rachel Herdes, Jodi Gedallovich, Amrita Narang","doi":"10.1002/jpr3.70247","DOIUrl":"https://doi.org/10.1002/jpr3.70247","url":null,"abstract":"Metabolic dysfunction-associated steatotic liver disease (MASLD) is a common comorbidity of pediatric obesity that predisposes patients to hepatocellular adenomas (HCAs). HCAs however are nonspecific to MASLD and warrant further evaluation. We present a case of a 16-year-old male with severe obesity, and persistently elevated liver enzymes, initially evaluated for MASLD. Imaging revealed multiple hepatic lesions consistent with HCAs, prompting further genetic evaluation. Trio exome sequencing identified biallelic variants in the glucose-6-phophatase gene, confirming a diagnosis of glycogen storage disease type Ia (GSD Ia). This case highlights the diagnostic challenge posed by overlapping features of MASLD and GSD Ia, particularly hepatic steatosis, HCAs, and metabolic syndrome. Initial management of MASLD with glucagon-like peptide-1 therapy was discontinued given risk for hypoglycemia, and the patient continues glucose monitoring and cornstarch therapy. This case emphasizes the importance of including inborn errors of metabolism in the differential diagnosis for multifocal HCAs and concerns with obesity treatments.","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13691576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149279517","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}

引用次数: 0

Human immunodeficiency virus infection mimicking very early onset inflammatory bowel disease. 人类免疫缺陷病毒感染模拟非常早期发作的炎症性肠病。

JPGN reports Pub Date : 2026-10-16 DOI: 10.1002/jpr3.70245

Rasha Abi Radi Abou Jaoudeh, Cary Sauer, Teresa Oh

{"title":"Human immunodeficiency virus infection mimicking very early onset inflammatory bowel disease.","authors":"Rasha Abi Radi Abou Jaoudeh, Cary Sauer, Teresa Oh","doi":"10.1002/jpr3.70245","DOIUrl":"10.1002/jpr3.70245","url":null,"abstract":"Very early onset inflammatory bowel disease (VEO-IBD), defined as diagnosis before 6 years of age, is often associated with immune dysregulation and monogenic etiologies; however, infectious mimics may be overlooked in low-prevalence regions. We report a 4-year-old male with poor weight gain, intermittent diarrhea, elevated fecal calprotectin, and persistently elevated erythrocyte sedimentation rate. Endoscopy showed diffuse friable colonic mucosa, and biopsies demonstrated focal active colitis with mild crypt distortion. He was diagnosed with VEO-IBD and treated with mesalamine, infliximab, adalimumab, and upadacitinib, with incomplete response. At age 7, he was hospitalized with fever, cytopenias, and pulmonary infiltrates; human immunodeficiency virus (HIV) testing was positive, with Pneumocystis jirovecii pneumonia and cytomegalovirus viremia. After discontinuing immunosuppression and initiating antiretroviral therapy, gastrointestinal symptoms and inflammatory markers improved. HIV-associated colitis can closely mimic VEO-IBD, and progressive lymphopenia should prompt evaluation for secondary immunodeficiency.","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13673555/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149217908","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}

引用次数: 0

Novel variant and enteroendocrine hormone deficiency in a patient with proline and glutamate-rich protein with a coiled coil domain 1 (PERCC1) associated enteropathy: New diagnostic and therapeutic insights. 脯氨酸和谷氨酸丰富蛋白卷曲卷曲结构域1 （PERCC1）相关肠病患者的新型变异和肠内分泌激素缺乏：新的诊断和治疗见解

JPGN reports Pub Date : 2026-10-16 DOI: 10.1002/jpr3.70259

Teresa Di Chio, Daniela Gattini, Christina Belza, Iram Siddiqui, Bolette Hartmann, Meghan Zoe Benchimol, Shiqi Zhang, Neil E Warner, Aleixo M Muise, Yaron Avitzur

{"title":"Novel variant and enteroendocrine hormone deficiency in a patient with proline and glutamate-rich protein with a coiled coil domain 1 (PERCC1) associated enteropathy: New diagnostic and therapeutic insights.","authors":"Teresa Di Chio, Daniela Gattini, Christina Belza, Iram Siddiqui, Bolette Hartmann, Meghan Zoe Benchimol, Shiqi Zhang, Neil E Warner, Aleixo M Muise, Yaron Avitzur","doi":"10.1002/jpr3.70259","DOIUrl":"10.1002/jpr3.70259","url":null,"abstract":"Proline and glutamate-rich protein with a coiled coil domain 1 (PERCC1)-associated enteropathy is a rare monogenic congenital diarrhea due to defective enteroendocrine cells (EECs). We describe a 6-year-old female with intestinal failure since birth. Biopsies demonstrated normal appearing gastric mucosa on hematoxylin and eosin stains. Commercial whole-exome sequencing did not reveal clinically relevant variants. Subsequent testing, prompted by undetectable serum Gastrin, identified compound heterozygous variants in PERCC1: c.390 C > G (Y130X) and a novel c.492del (S164RfsX33) variant. Hormonal profiling showed low endogenous glucagon-like peptide (GLP)-1 and -2 levels, pre and postprandial. Immunohistochemistry showed a markedly reduced density of Gastrin containing G-cells and preserved EEC. At 5.5 years, endogenous GLP-2 deficiency supported off-label Teduglutide therapy. Baseline Parenteral Nutrition Dependency Index (PNDI) was 67%; after 16 months, PNDI decreased to 35%, with improved stool output and appetite. Congenital diarrhea with low serum levels of Gastrin, GLP-1, and -2 and abnormal G-cell staining should prompt targeted genetic analysis for PERCC1 with whole genome sequencing. Timely diagnosis enables Teduglutide therapy and parenteral nutrition weaning.","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13673151/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149217852","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}

引用次数: 0

Suspected fibrosing cholestatic hepatitis in an immunocompetent child with hepatitis C: Case report. 怀疑纤维化胆汁淤积性肝炎的免疫能力儿童丙型肝炎：病例报告。

JPGN reports Pub Date : 2026-10-15 DOI: 10.1002/jpr3.70250

Sara Bohon, Regino Gonzalez-Peralta, Robert J Fontana, Richard Cordle, Robin LeGallo, Frank DiPaola

{"title":"Suspected fibrosing cholestatic hepatitis in an immunocompetent child with hepatitis C: Case report.","authors":"Sara Bohon, Regino Gonzalez-Peralta, Robert J Fontana, Richard Cordle, Robin LeGallo, Frank DiPaola","doi":"10.1002/jpr3.70250","DOIUrl":"10.1002/jpr3.70250","url":null,"abstract":"A 12-year-old boy presented to our center with elevated aminotransferases, jaundice, right upper quadrant tenderness, and hepatomegaly. Evaluation revealed a highly elevated blood hepatitis C virus (HCV) ribonucleic acid (RNA) level, and liver biopsy showed canalicular and intrahepatic cholestasis, feathery degeneration of hepatocytes, and periportal/perisinusoidal fibrosis. Though there were atypical biopsy features, including absence of bile ductular reaction, we diagnosed suspected fibrosing cholestatic hepatitis (FCH). FCH secondary to HCV infection has been reported exclusively in immunosuppressed adults. To our knowledge, this is the first reported case of suspected FCH in a child, and the first reported case of suspected HCV-related FCH in any immunocompetent patient. Our patient was successfully treated with sofosbuvir/velpatasvir with sustained virologic response at 12 weeks. We conclude that FCH should be considered on the differential whenever any child with HCV infection presents with evidence of worsening liver injury including new hepatomegaly or jaundice.","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13670154/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149217934","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}

引用次数: 0

Achieving clinical and histologic remission with tezepelumab in an adolescent with refractory eosinophilic gastrointestinal disease: A case report. tezepelumab治疗难治性嗜酸性胃肠道疾病的青少年患者的临床和组织学缓解：1例报告。

JPGN reports Pub Date : 2026-10-15 DOI: 10.1002/jpr3.70249

Destiny Newsome, Colby Sharlin, Cindy Salm Bauer, Shauna Schroeder

引用次数: 0

More than just anemia: Uncovering celiac disease beneath the surface: A case report. 不仅仅是贫血：揭露乳糜泻的表面：一个病例报告。

JPGN reports Pub Date : 2026-10-15 DOI: 10.1002/jpr3.70251

Evan Greenhall, Bri Best, David F Carpenteri, Paula Prieto-Tizzard

引用次数: 0

Two pediatric type II achalasia cases complicated by candidal and eosinophilic esophagitis: Successful peroral endoscopic myotomy treatment. 2例小儿II型贲门失弛缓症并发念珠菌性和嗜酸性粒细胞性食管炎：经口内镜下肌切开术治疗成功。

JPGN reports Pub Date : 2026-10-15 DOI: 10.1002/jpr3.70260

Fabio Rotondo, Antonio Marseglia, Anna Locatelli, Dalila Tedeschi, Marco Gentile, Francesco Perri, Maria Rosa Pastore, Massimo Pettoello Mantovani

引用次数: 0

Early nutritional management of cystic fibrosis infants born with meconium ileus. 先天性胎便性肠梗阻囊性纤维化婴儿的早期营养管理。

JPGN reports Pub Date : 2026-10-15 DOI: 10.1002/jpr3.70254

Laetitia Mouly, Tom Ruffles, Chris Smith

引用次数: 0

A rare instance of Ogilvie syndrome in a pediatric patient with a complex medical history: A case report. 一个罕见的奥吉维综合征患儿的复杂病史：一个病例报告。

JPGN reports Pub Date : 2026-10-15 DOI: 10.1002/jpr3.70240

Kirby Lampe, Victoria Sarata, Aileen Har, Fernando Zapata

引用次数: 0

Severe constipation-associated postprandial abdominal pain in a pregnant native-liver biliary atresia survivor after Kasai portoenterostomy: A case report. Kasai门静脉肠造口术后，一名怀孕的原生肝脏胆道闭锁幸存者出现严重便秘相关的餐后腹痛：一例报告。

JPGN reports Pub Date : 2026-10-14 DOI: 10.1002/jpr3.70253

Akram Alnounou, Ajay Katwala, Mohammad Alabbas, Bisher Sawaf, Arghyadeep Ganguly, EzzElDien A Ibrahim, Fnu Vikash

{"title":"Severe constipation-associated postprandial abdominal pain in a pregnant native-liver biliary atresia survivor after Kasai portoenterostomy: A case report.","authors":"Akram Alnounou, Ajay Katwala, Mohammad Alabbas, Bisher Sawaf, Arghyadeep Ganguly, EzzElDien A Ibrahim, Fnu Vikash","doi":"10.1002/jpr3.70253","DOIUrl":"https://doi.org/10.1002/jpr3.70253","url":null,"abstract":"An 18-year-old woman with congenital biliary atresia status post Kasai portoenterostomy and magnetic resonance imaging-reported chronic liver disease presented at 32 weeks' gestation with 6 weeks of worsening postprandial epigastric/right upper quadrant pain, nausea, and poor oral intake. Evaluation showed preserved hepatic synthetic function and no demonstrated clinically significant portal hypertension. Endoscopy excluded esophageal and gastric varices, computed tomography showed no imaging evidence of pancreatitis, biliary obstruction, or other acute intra-abdominal pathology, computed tomography angiography excluded mesenteric ischemia, and gastric emptying scintigraphy excluded gastroparesis. Nonreassuring fetal surveillance prompted preterm induction at approximately 33 weeks 4 days. Postpartum symptoms persisted, and imaging review identified severe constipation with rectal impaction/fecalization as the dominant treatable contributor. This case broadens the peripartum phenotype reported in native-liver biliary atresia survivors by emphasizing constipation-associated postprandial abdominal pain, poor oral intake, nutritional risk, and medication-related bowel dysfunction rather than variceal bleeding or hepatic decompensation alone.","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13662888/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149198593","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}

引用次数: 0