{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:09:41Z","timestamp":1753870181075,"version":"3.41.2"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,3,9]],"date-time":"2021-03-09T00:00:00Z","timestamp":1615248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Hermansky\u2013Pudlak syndrome (HPS) is a rare genetic disorder. We report three cases from a family of 12 siblings, with six albinos, of whom four and the father had pulmonary fibrosis (PF). Case 1 was admitted to our hospital due to increasing dyspnoea and history of gynaecological bleeding. Pulmonary function test showed a restrictive airflow pattern, high\u2010resolution computed tomographic scan demonstrated interstitial lung disease (ILD), and platelet aggregation was compromised with a reduced number of platelet dense bodies. The family history revealed endogamy and 11 members with suspected HPS. One of the albino sisters and the father had passed away with unidentified ILD, an albino brother died 14\u2009years earlier, his autopsy had shown collections of ceroid pigments in the lungs, consistent with HPS, and another brother was followed up at our hospital for ILD and compromised platelet aggregation. This family probably has the highest number of members affected by HPS in Spain.<\/jats:p>","DOI":"10.1002\/rcr2.720","type":"journal-article","created":{"date-parts":[[2021,3,9]],"date-time":"2021-03-09T08:41:10Z","timestamp":1615279270000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A family history of Hermansky\u2013Pudlak syndrome complicated with pulmonary fibrosis: a case series and review"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5742-8521","authenticated-orcid":false,"given":"Katiuska","family":"Liendo Martinez","sequence":"first","affiliation":[{"name":"Serv\u00edcio de Neumolog\u00eda Hospital General Universitario Gregorio Mara\u00f1\u00f3n  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Pedraza","sequence":"additional","affiliation":[{"name":"Serv\u00edcio de Neumolog\u00eda Hospital General Universitario Gregorio Mara\u00f1\u00f3n  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Fuentes Alonso","sequence":"additional","affiliation":[{"name":"Serv\u00edcio de Neumolog\u00eda Hospital General Universitario Gregorio Mara\u00f1\u00f3n  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Puente Maestu","sequence":"additional","affiliation":[{"name":"Serv\u00edcio de Neumolog\u00eda Hospital General Universitario Gregorio Mara\u00f1\u00f3n  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Rodriguez Naranjo","sequence":"additional","affiliation":[{"name":"Serv\u00edcio de Anatom\u00eda Patol\u00f3gica Hospital Universitario Gregorio Mara\u00f1\u00f3n  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4543-573X","authenticated-orcid":false,"given":"Javier","family":"De Miguel\u2010Diez","sequence":"additional","affiliation":[{"name":"Serv\u00edcio de Neumolog\u00eda Hospital General Universitario Gregorio Mara\u00f1\u00f3n  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,3,9]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V14.2.162.162"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0040-1708088"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccm.2016.04.012"},{"issue":"10","key":"e_1_2_4_5_1","first-page":"1839","article-title":"Pulmonary fibrosis in Hermansky\u2010Pudlak syndrome","volume":"13","author":"Vicary G","year":"2016","journal-title":"Ann. 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