{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T07:14:45Z","timestamp":1783322085058,"version":"3.54.6"},"reference-count":13,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,7,5]],"date-time":"2026-07-05T00:00:00Z","timestamp":1783209600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,7,5]],"date-time":"2026-07-05T00:00:00Z","timestamp":1783209600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["1RC2DK122533"],"award-info":[{"award-number":["1RC2DK122533"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000060","name":"National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","award":["1R24AI162637"],"award-info":[{"award-number":["1R24AI162637"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JPGN rep."],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Shwachman\u2013Diamond syndrome (SDS) is an inherited bone marrow failure disorder, and its endoscopic phenotype is poorly defined. We sought to characterize endoscopic findings in patients with genetically confirmed SDS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Retrospective registry study of 45 patients with biallelic Shwachman\u2013Bodian\u2013Diamond syndrome mutations and evaluable endoscopic procedures. Clinical, laboratory, imaging, endoscopic reports, and biopsy findings were extracted from patient medical records.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 45 patients with genetically confirmed SDS, 102 endoscopic procedures were performed, most commonly esophagogastroduodenoscopy (EGD, 58.8%). The leading indication was diarrhea and\/or steatorrhea (23.6%). Abnormal biopsy findings were most frequent in patients with dysphagia\/dyspepsia or gastrointestinal bleeding and were strongly associated with elevated C\u2010reactive protein and abnormal hepatic enzymes. Most pre\u2010procedural imaging studies were normal (63.4%). Pre\u2010hematopoietic stem cell transplant (HSCT) biopsies were largely normal, with occasional mild acute or chronic inflammation in the esophagus, stomach, and duodenum. In contrast, post\u2010HSCT biopsies showed more diverse abnormalities, including inflammation, basal crypt apoptosis, and graft\u2010versus\u2010host disease (GVHD)\u2013associated changes. Central pathology review also identified rare findings such as adenoviral infection and mild or equivocal GVHD in post\u2010transplant samples.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Endoscopic evaluation in patients with SDS demonstrates heterogeneous histopathologic findings, with diagnostic yield influenced by clinical indication, laboratory abnormalities, and transplant status. Routine endoscopy in asymptomatic or nonspecifically symptomatic patients may have limited value, whereas targeted evaluation based on symptoms or supportive laboratory findings may improve diagnostic yield. These findings provide updated insight into gastrointestinal manifestations of SDS and may help guide clinical decision\u2010making regarding endoscopic evaluation in this rare disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jpr3.70218","type":"journal-article","created":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T06:31:09Z","timestamp":1783319469000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Endoscopic findings in patients with Shwachman\u2013Diamond syndrome: A report from the North American Shwachman\u2013Diamond syndrome registry"],"prefix":"10.1002","author":[{"given":"Elizabeth","family":"Korn","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Harvard Medical School Division of Pediatric Hematology\/Oncology, Dana\u2010Farber\/Boston Children's Cancer and Blood Disorders Center Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1858-2881","authenticated-orcid":false,"given":"Jane","family":"Koo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center University of Cincinnati Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Schwarz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center University of Cincinnati Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meghan","family":"Haney","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center University of Cincinnati Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3487-4641","authenticated-orcid":false,"given":"Juan","family":"Putra","sequence":"additional","affiliation":[{"name":"Department of Pathology Boston Children's Hospital, and Harvard Medical School Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaeson","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leah","family":"Cheng","sequence":"additional","affiliation":[{"name":"Clinical Research Center, Boston Children's Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Steltz","sequence":"additional","affiliation":[{"name":"Clinical Research Center, Boston Children's Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lois","family":"Schwarz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Harvard Medical School Division of Pediatric Hematology\/Oncology, Dana\u2010Farber\/Boston Children's Cancer and Blood Disorders Center Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Loveless","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center University of Cincinnati Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Cooper","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center University of Cincinnati Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Dusa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center University of Cincinnati Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5528-4405","authenticated-orcid":false,"given":"Kasiani C.","family":"Myers","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center University of Cincinnati Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4683-9958","authenticated-orcid":false,"given":"Akiko","family":"Shimamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Harvard Medical School Division of Pediatric Hematology\/Oncology, Dana\u2010Farber\/Boston Children's Cancer and Blood Disorders Center Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2293-4037","authenticated-orcid":false,"given":"Andrew","family":"Wehrman","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit S.","family":"Grover","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,5]]},"reference":[{"key":"e_1_2_9_2_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Nelson 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(Stockholm)"},{"issue":"5","key":"e_1_2_9_12_1","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1007\/BF02021702","article-title":"Shwachman\u2010Diamond syndrome: clinical, radiological and sonographic findings","volume":"25","author":"Berrocal T","year":"1995","journal-title":"Pediatr Radiol"},{"issue":"1","key":"e_1_2_9_13_1","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1002\/jpn3.70051","article-title":"Endoscopic findings in the evaluation of gastrointestinal symptoms in pediatric patients post hematopoietic stem cell transplantation","volume":"81","author":"Slae M","year":"2025","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"11","key":"e_1_2_9_14_1","doi-asserted-by":"crossref","DOI":"10.1002\/pbc.29235","article-title":"Evaluation of gastrointestinal symptoms in pediatric patients post hematopoietic stem cell transplantation: ileo\u2010colonoscopy versus sigmoidoscopy. A single\u2010center experience and review of literature","volume":"68","author":"Slae M","year":"2021","journal-title":"Pediatr Blood Cancer"}],"container-title":["JPGN Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpr3.70218","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jpr3.70218","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpr3.70218","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T06:31:11Z","timestamp":1783319471000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jpr3.70218"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,5]]},"references-count":13,"alternative-id":["10.1002\/jpr3.70218"],"URL":"https:\/\/doi.org\/10.1002\/jpr3.70218","archive":["Portico"],"relation":{},"ISSN":["2691-171X","2691-171X"],"issn-type":[{"value":"2691-171X","type":"print"},{"value":"2691-171X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,5]]},"assertion":[{"value":"2026-03-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"jpr3.70218"}}