{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T03:58:37Z","timestamp":1785383917277,"version":"3.55.0"},"reference-count":10,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T00:00:00Z","timestamp":1783987200000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Alpha\u20101 antitrypsin deficiency (AATD) is a hereditary disorder that reduces a key lung\u2010protective protein, predisposing individuals to early\u2010onset emphysema. Multiple Endocrine Neoplasia type 2B (MEN2B), caused by RET gene mutations, is a rare syndrome characterised by aggressive medullary thyroid carcinoma and pheochromocytoma. Coexistence of MEN2B and AATD has not previously been reported. A 32\u2010year\u2010old woman with a history of medullary thyroid carcinoma and prior total thyroidectomy presented with severe dyspnea, generalised edema and weakness after discontinuing levothyroxine. She was tachycardic and hypoxemic, with wheezing and bilateral crackles. Laboratory evaluation showed leukocytosis, thrombocytosis, electrolyte abnormalities and markedly reduced alpha\u20101 antitrypsin levels. Chest CT revealed bilateral cystic and emphysematous changes, and spirometry confirmed severe obstructive disease. Supportive therapy and symptom\u2010directed management improved her respiratory status. The diagnoses of MEN2B and AATD were made based on clinical features, biochemical findings and imaging results, as confirmatory genetic testing was not available according to sanction. This case highlights the extremely rare coexistence of MEN2B and AATD. Overlapping manifestations contributed to delayed recognition. Clinicians should consider rare genetic conditions when common diagnoses do not fully explain a patient's presentation.<\/jats:p>","DOI":"10.1002\/rcr2.70679","type":"journal-article","created":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T01:18:01Z","timestamp":1784078281000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Coexistence of Multiple Endocrine Neoplasia Type\n                    <scp>2B<\/scp>\n                    and Centri\u2010Acinar Emphysema With Alpha\u20101 Antitrypsin Deficiency: A Case Report"],"prefix":"10.1002","volume":"14","author":[{"given":"Mohammad Javad","family":"Mohammadifard","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Faculty of Medicine Shahid Sadoughi University of Medical Sciences and Health Services  Yazd Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-4931-0820","authenticated-orcid":false,"given":"Abolfazl","family":"Taghinejad","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Faculty of Medicine Shahid Sadoughi University of Medical Sciences and Health Services  Yazd Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FatemehAlsadat","family":"AghaeiMeybodi","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Faculty of Medicine Shahid Sadoughi University of Medical Sciences and Health Services  Yazd Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,14]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heliyon.2024.e31183"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2023.107222"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.122.5.1818"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12931-017-0574-1"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/15412555.2016.1178224"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2796.1998.00330.x"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/20406223221079246"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1530\/ERC-17-0209"},{"key":"e_1_2_12_10_1","volume-title":"GeneReviews","author":"Eng C.","year":"1993"},{"key":"e_1_2_12_11_1","volume-title":"Multiple Endocrine Neoplasia Type 2 (MEN2) (PDQ): Health Professional Version","author":"Board PDQCGE","year":"2002"}],"container-title":["Respirology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.70679","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/rcr2.70679","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.70679","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T03:06:08Z","timestamp":1785380768000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/rcr2.70679"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":10,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1002\/rcr2.70679"],"URL":"https:\/\/doi.org\/10.1002\/rcr2.70679","archive":["Portico"],"relation":{},"ISSN":["2051-3380","2051-3380"],"issn-type":[{"value":"2051-3380","type":"print"},{"value":"2051-3380","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7]]},"assertion":[{"value":"2026-02-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70679"}}