{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T18:44:43Z","timestamp":1792608283630,"version":"4.5.0"},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Semin Respir Crit Care Med"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hermansky\u2013Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulation, and traction bronchiectasis develop with progression of PF. HPS is an orphan disease occurring in 1 in 500,000 to 1,000,000 individuals worldwide, though the prevalence is 1 in 1,800 in individuals with Puerto Rican heritage. Recessive mutations or disruptions in HPS genes alter the function of HPS proteins which are components of biogenesis of lysosome-related organelle complexes and are critical for intracellular protein trafficking. Diagnosis and management of HPS-related comorbidities represent a challenge to physicians, and a multidisciplinary clinical approach is necessary for early detection, health management, and surveillance of PF in patients with HPS types 1, 2, and 4. Treatment options for individuals with HPS-PF include pirfenidone and lung transplantation. In this article, we describe the epidemiology, genetics, clinical manifestations, and management of HPS.<\/jats:p>","DOI":"10.1055\/s-0040-1708088","type":"journal-article","created":{"date-parts":[[2020,4,12]],"date-time":"2020-04-12T22:31:16Z","timestamp":1586730676000},"page":"238-246","source":"Crossref","is-referenced-by-count":51,"title":["Hermansky\u2013Pudlak Syndrome"],"prefix":"10.1055","volume":"41","author":[{"given":"Wilfredo","family":"De Jesus Rojas","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa R.","family":"Young","sequence":"additional","affiliation":[{"name":"Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2020,4,12]]},"container-title":["Seminars in Respiratory and Critical Care Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0040-1708088.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,12]],"date-time":"2020-04-12T22:31:22Z","timestamp":1586730682000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0040-1708088"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4]]},"references-count":0,"journal-issue":{"issue":"02","published-online":{"date-parts":[[2020,4,12]]},"published-print":{"date-parts":[[2020,4]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0040-1708088","relation":{},"ISSN":["1069-3424","1098-9048"],"issn-type":[{"value":"1069-3424","type":"print"},{"value":"1098-9048","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4]]}}}