{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,28]],"date-time":"2025-12-28T19:26:16Z","timestamp":1766949976889,"version":"3.48.0"},"reference-count":7,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T00:00:00Z","timestamp":1765324800000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Cystic fibrosis (CF) and Shwachman\u2010Diamond Syndrome (SDS) share overlapping features, including recurrent respiratory infections and pancreatic insufficiency, which can complicate diagnosis. We report a case of a six\u2010year\u2010old girl who presented with productive cough, steatorrhea and recurrent infections. Initial evaluation showed abnormal liver enzymes, elevated immunoreactive trypsin, neutrophil dysfunction and skeletal anomalies. Sweat test was equivocal and CFTR genetic panel was negative. Further genomic analysis identified compound heterozygous mutations in the SBDS gene: c.258+2T&gt;C (known pathogenic variant) and c.284T&gt;A (novel variant), confirming SDS. Over a 42\u2010year follow\u2010up, she experienced intermittent neutropenia, recurrent respiratory infections and pregnancy\u2010related complications. This case emphasises the importance of considering SDS in CF\u2010like presentations with atypical features and equivocal CF testing. Milder SDS phenotypes can survive into adulthood. Further work is needed to refine genotype\u2013phenotype correlations and guide long\u2010term management.<\/jats:p>","DOI":"10.1002\/rcr2.70440","type":"journal-article","created":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T02:35:52Z","timestamp":1765420552000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Beyond Cystic Fibrosis: Recognising Shwachman\u2010Diamond Syndrome in the Respiratory Clinic"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2858-1559","authenticated-orcid":false,"given":"Freda","family":"Yang","sequence":"first","affiliation":[{"name":"National Heart and Lung Institute, Imperial College London  London UK"},{"name":"Guy's \u2010 Brompton Asthma Network, Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8201-8567","authenticated-orcid":false,"given":"Ladina","family":"Weitnauer","sequence":"additional","affiliation":[{"name":"Adult Cystic Fibrosis Centre, Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imogen","family":"Felton","sequence":"additional","affiliation":[{"name":"National Heart and Lung Institute, Imperial College London  London UK"},{"name":"Adult Cystic Fibrosis Centre, Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1705-4780","authenticated-orcid":false,"given":"Nicholas J.","family":"Simmonds","sequence":"additional","affiliation":[{"name":"National Heart and Lung Institute, Imperial College London  London UK"},{"name":"Adult Cystic Fibrosis Centre, Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-024-00538-6"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2011.06349.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37673"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/cm.10164"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2012.10.003"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.26757"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2022017739"}],"container-title":["Respirology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.70440","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,28]],"date-time":"2025-12-28T19:24:31Z","timestamp":1766949871000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/rcr2.70440"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":7,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1002\/rcr2.70440"],"URL":"https:\/\/doi.org\/10.1002\/rcr2.70440","archive":["Portico"],"relation":{},"ISSN":["2051-3380","2051-3380"],"issn-type":[{"type":"print","value":"2051-3380"},{"type":"electronic","value":"2051-3380"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"2025-10-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70440"}}