{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T17:41:07Z","timestamp":1791222067268,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T00:00:00Z","timestamp":1774828800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T00:00:00Z","timestamp":1774828800000},"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\/100006492","name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","award":["1R24AI162637"],"award-info":[{"award-number":["1R24AI162637"]}],"id":[{"id":"10.13039\/100006492","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Shwachman\u2010Diamond syndrome (SDS) is an inherited bone marrow failure disorder, and its hepatic phenotype is poorly defined. Our objective was to systematically characterize the prevalence, features, and outcomes of liver injury in a multicenter SDS cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Retrospective registry study of 171 patients with biallelic Shwachman\u2010Bodian\u2010Diamond syndrome (\n                      <jats:italic>SBDS<\/jats:italic>\n                      ) mutations and evaluable hepatic data. Clinical, laboratory, imaging, elastography, and biopsy findings were extracted from medical records.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Chronic hepatitis (CH) was observed in 94 of 171 patients (55%), with a median age at onset of 1.0 year (range 0.04\u201337.9). At presentation, 71% had alanine aminotransferase (ALT)\u2009\u2265\u20092\u00d7 upper limit of normal (ULN) (interquartile range [IQR] 81\u2013228.5\u2009U\/mL). In contrast, adult\u2010onset CH (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20095) was characterized by only mild (1\u20132\u00d7 ULN) transaminase elevations. CH persisted for a median of 6 years, with resolution in 36% of cases. Hematopoietic stem cell transplantation (HSCT) exposure and liver\u2010related mortality did not differ between patients with and without CH. Ultrasound (226 studies) was the principal imaging modality; 55% of scans in the CH cohort displayed increased echogenicity with preserved size, mirroring no\u2010CH findings. Elastography (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200941) showed comparable liver stiffness, though controlled attenuation parameter (CAP)\u2010defined steatosis was more common without CH (40% vs. 18%). Biopsies (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200930) revealed hepatitis (69%) and fibrosis (65%) in pediatric CH, whereas adults showed universal steatosis, often with fibrosis or cirrhosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Liver disease is common in individuals with SDS. Longitudinal prospective surveillance and mechanistic studies are needed to inform targeted prevention and therapy.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jpn3.70430","type":"journal-article","created":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T06:07:08Z","timestamp":1774937228000},"page":"1357-1365","source":"Crossref","is-referenced-by-count":1,"title":["Liver disease in Shwachman\u2010Diamond syndrome: A comprehensive characterization across the age spectrum"],"prefix":"10.1002","volume":"82","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1858-2881","authenticated-orcid":false,"given":"Jane","family":"Koo","sequence":"first","affiliation":[{"name":"Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics University of Cincinnati Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Schwarz","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology\/Oncology, Dana\u2010Farber\/Boston Children's Cancer and Blood Disorders Center, Department of Pediatrics Harvard Medical School Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meghan","family":"Haney","sequence":"additional","affiliation":[{"name":"Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics University of Cincinnati Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Putra","sequence":"additional","affiliation":[{"name":"Department of Pathology Boston Children's Hospital, 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":"Elizabeth","family":"Korn","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology\/Oncology, Dana\u2010Farber\/Boston Children's Cancer and Blood Disorders Center, Department of Pediatrics Harvard Medical School Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Steltz","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology\/Oncology, Dana\u2010Farber\/Boston Children's Cancer and Blood Disorders Center, Department of Pediatrics Harvard Medical School Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lois","family":"Schwarz","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology\/Oncology, Dana\u2010Farber\/Boston Children's Cancer and Blood Disorders Center, Department of Pediatrics Harvard Medical School Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Loveless","sequence":"additional","affiliation":[{"name":"Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics University of Cincinnati Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Cooper","sequence":"additional","affiliation":[{"name":"Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics University of Cincinnati Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Dusa","sequence":"additional","affiliation":[{"name":"Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics University of Cincinnati Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Lane","sequence":"additional","affiliation":[{"name":"Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics University of Cincinnati Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kasiani C.","family":"Myers","sequence":"additional","affiliation":[{"name":"Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics University of Cincinnati Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akiko","family":"Shimamura","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology\/Oncology, Dana\u2010Farber\/Boston Children's Cancer and Blood Disorders Center, Department of Pediatrics Harvard Medical School 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"}]},{"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"}]}],"member":"311","published-online":{"date-parts":[[2026,3,30]]},"reference":[{"key":"e_1_2_9_2_1","unstructured":"Nelson A Myers K. Shwachman\u2010Diamond syndrome. In: Adam MP Feldman J Mirzaa GM Pagon RA Wallace SE Amemiya A eds.GeneReviews\u00ae[Internet]. University of Washington; 1993."},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2018.04.006"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1062"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2020.04.029"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.06.047"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.12998\/wjcc.v7.i12.1456"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0818-2"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1703549"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2023012215"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/pediatric16010011"},{"key":"e_1_2_9_12_1","unstructured":"LiverTox: clinical and research information on drug\u2010induced liver injury [Internet]. National Institute of Diabetes and Digestive and Kidney Diseases. Published 2012. Updated May 4 2019. Accessed January 22 2026.https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK547983\/?utm_source=chatgpt.com"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2007.08.035"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dld.2008.07.297"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2025.114780"}],"container-title":["Journal of Pediatric Gastroenterology and Nutrition"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpn3.70430","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jpn3.70430","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpn3.70430","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T03:25:29Z","timestamp":1780629929000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jpn3.70430"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,30]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1002\/jpn3.70430"],"URL":"https:\/\/doi.org\/10.1002\/jpn3.70430","archive":["Portico"],"relation":{},"ISSN":["0277-2116","1536-4801"],"issn-type":[{"value":"0277-2116","type":"print"},{"value":"1536-4801","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,30]]}}}