{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T10:56:29Z","timestamp":1791197789807,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T00:00:00Z","timestamp":1784246400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T00:00:00Z","timestamp":1784246400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["aspenjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Parenter Enteral Nutr"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Familial hemophagocytic lymphohistiocytosis type 5 is caused by biallelic pathogenic variants in\n                    <jats:italic>STXBP2<\/jats:italic>\n                    , which encodes syntaxin\u2010binding protein, a key regulator of vesicle trafficking. In addition to immune dysregulation, patients with familial hemophagocytic lymphohistiocytosis type 5 may present with severe, persistent diarrhea associated with microvillus inclusion disease. However, the long\u2010term clinical course of microvillus inclusion disease in this context remains poorly characterized due to limited survival beyond early childhood. We report a 22\u2010year\u2010old male with familial hemophagocytic lymphohistiocytosis type 5 who developed chronic diarrhea in infancy that persisted despite following bone marrow transplantation. The diagnosis of microvillus inclusion disease was established 16 years after transplantation based on characteristic histopathological findings. The patient also developed Fanconi syndrome, a rare complication in this setting, which improved following intensification of parenteral nutrition. Long\u2010term follow\u2010up revealed that the patient was dependent on parenteral nutrition not only for caloric intake but also for the correction of electrolyte imbalance. Growth retardation and multiple endocrine abnormalities improved with nutritional optimization, highlighting the systemic impact of chronic undernutrition. This patient expands the long\u2010term extrahematopoietic phenotype of\n                    <jats:italic>STXBP2<\/jats:italic>\n                    \u2010related familial hemophagocytic lymphohistiocytosis type 5 and underscores the importance of individualized nutritional management.\n                  <\/jats:p>","DOI":"10.1002\/jpen.70130","type":"journal-article","created":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T10:20:02Z","timestamp":1784283602000},"page":"1040-1044","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Long\u2010term clinical trajectory of microvillus inclusion disease associated with\n                    <i>STXBP2<\/i>\n                    \u2010related familial hemophagocytic lymphohistiocytosis type 5: A case report"],"prefix":"10.1002","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5135-4093","authenticated-orcid":false,"given":"Hiroyuki","family":"Tanaka","sequence":"first","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariko","family":"Sekiguchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuko","family":"Kajiho","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuo","family":"Ushiku","sequence":"additional","affiliation":[{"name":"Department of Pathology The University of Tokyo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Fujishiro","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery The University of Tokyo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Motohiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The University of Tokyo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/apa.16013"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI40732"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.24475"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-12-398958"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/tra.12131"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23386"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0014173"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.225"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2014.04.002"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e3182353773"}],"container-title":["Journal of Parenteral and Enteral Nutrition"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/aspenjournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpen.70130","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/aspenjournals.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jpen.70130","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/aspenjournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpen.70130","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T09:56:43Z","timestamp":1791194203000},"score":1,"resource":{"primary":{"URL":"https:\/\/aspenjournals.onlinelibrary.wiley.com\/doi\/10.1002\/jpen.70130"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,17]]},"references-count":10,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1002\/jpen.70130"],"URL":"https:\/\/doi.org\/10.1002\/jpen.70130","archive":["Portico"],"relation":{},"ISSN":["0148-6071","1941-2444"],"issn-type":[{"value":"0148-6071","type":"print"},{"value":"1941-2444","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,17]]},"assertion":[{"value":"2026-06-20","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":"2026-07-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}