{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:15:13Z","timestamp":1787019313742,"version":"build-2736575974"},"reference-count":22,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"The Science and Technology Project of Chengdu","award":["No. 2024-YF09-00019-SN, No. 2022-YF09-00003-SN"],"award-info":[{"award-number":["No. 2024-YF09-00019-SN, No. 2022-YF09-00003-SN"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Ther Adv Respir Dis"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Hermansky-Pudlak syndrome (HPS) is a rare disease characterized by excessive bleeding, oculocutaneous albinism, and pulmonary fibrosis (PF). However, few studies have systematically summarized the clinical characteristics of HPS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>To summarize the clinical characteristics, risk factors of PF, radiological and pathological presentations, and prognostic factors in patients with HPS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design:<\/jats:title>\n                    <jats:p>A systematic review.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Data sources and methods:<\/jats:title>\n                    <jats:p>We searched PubMed, Embase, Web of Science, and Scopus for eligible studies and extracted patient-level data of clinical characteristics, diagnosis of PF, radiological and pathological features, outcomes, and survival time. Categorial variables were presented as numbers (proportions) and compared using the chi-square test. Univariate and multivariate logistic regression analyses were applied to identify potential risk factors of PF. Kaplan\u2013Meier curve, log-rank test, and Cox regression models were performed for survival analysis and prognostic factors.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      A total of 186 patients from 112 eligible studies were included. Ocular albinism was associated with increased risk of PF (OR 9.08, 95% CI 2.26, 36.41,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.002), while nystagmus was associated with reduced risk of PF (OR 0.11, 95% CI 0.03, 0.42,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.001). Ground glass opacity (77.9%) was the most common radiological pattern, and ceroid deposition (66.7%) was the most common pathological pattern in HPS-associated PF (HPS-PF). Significant improvements in survival time were observed in patients who received an antifibrotic drug or lung transplantation (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.042). However, no significant prognostic factor was identified in multivariate Cox regression analyses.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Ocular albinism may serve as a risk factor, while nystagmus may serve as a protective factor of PF in HPS patients. Applying antifibrotic drugs or lung transplantation may improve the outcome and survival time of patients with HPS-PF. Future prospective studies with a large sample size were needed to verify these results and identify potential prognostic factors.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Trial registration:<\/jats:title>\n                    <jats:p>This systematic review was registered in PROSPERO (CRD42024623580)<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/17534666251374241","type":"journal-article","created":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T06:35:43Z","timestamp":1757313343000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: a systematic review"],"prefix":"10.1177","volume":"19","author":[{"given":"Dongru","family":"Du","sequence":"first","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, China"},{"name":"State Key Laboratory of Respiratory Health and Multimorbidity, West China Hospital, Sichuan University, Chengdu, China"},{"name":"Laboratory of Pulmonary Immunology and Inflammation, Frontiers Science Center for Disease-Related Molecular Network, Sichuan University, Chengdu, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, China"},{"name":"State Key Laboratory of Respiratory Health and Multimorbidity, West China Hospital, Sichuan University, Chengdu, China"},{"name":"Laboratory of Pulmonary Immunology and Inflammation, Frontiers Science Center for Disease-Related Molecular Network, Sichuan University, Chengdu, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huajing","family":"Wan","sequence":"additional","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, China"},{"name":"State Key Laboratory of Respiratory Health and Multimorbidity, West China Hospital, Sichuan University, Chengdu, China"},{"name":"Laboratory of Pulmonary Immunology and Inflammation, Frontiers Science Center for Disease-Related Molecular Network, Sichuan University, Chengdu, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9267-3437","authenticated-orcid":false,"given":"Fengming","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu 610041, China"},{"name":"State Key Laboratory of Respiratory Health and Multimorbidity, West China Hospital, Sichuan University, Chengdu 610041, China"},{"name":"Laboratory of Pulmonary Immunology and Inflammation, Frontiers Science Center for Disease-Related Molecular Network, Sichuan University, Chengdu 610200, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,9,7]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V14.2.162.162"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.13030"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1177\/1742395316655854"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1183\/16000617.0193-2020"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2024.3669"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms252011270"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.21037\/jtd-24-450"},{"issue":"10","key":"e_1_3_4_9_2","first-page":"1839","article-title":"Pulmonary fibrosis in Hermansky-Pudlak syndrome","volume":"13","author":"Vicary GW","year":"2016","unstructured":"Vicary GW, Vergne Y, Santiago-Cornier A, et al. Pulmonary fibrosis in Hermansky-Pudlak syndrome. Ann Am Thorac Soc 2016; 13(10): 1839\u20131846.","journal-title":"Ann Am Thorac Soc"},{"issue":"2","key":"e_1_3_4_10_2","first-page":"238","article-title":"Hermansky-Pudlak syndrome","volume":"41","author":"De Jesus Rojas W","year":"2020","unstructured":"De Jesus Rojas W, Young LR. Hermansky-Pudlak syndrome. Semin Respir Crit Care Med. 2020; 41(2): 238\u2013246.","journal-title":"Respir Crit Care Med"},{"key":"e_1_3_4_11_2","article-title":"The PRISMA 2020 statement: an updated guideline for reporting systematic reviews","volume":"372","author":"Page MJ","year":"2021","unstructured":"Page MJ, McKenzie JE, Bossuyt PM, et al. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. BMJ (Clinical research ed) 2021; 372: n71.","journal-title":"BMJ (Clinical research ed)"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmjebm-2017-110853"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00330-021-07868-z"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-023-01413-w"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200909-1414OC"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12931-021-01877-8"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12931-021-01640-z"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI74942"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.redox.2020.101509"},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.00076"},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.178381"},{"key":"e_1_3_4_22_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-025-03758-5"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12890-021-01645-w"}],"container-title":["Therapeutic Advances in Respiratory Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/17534666251374241","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/17534666251374241","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/17534666251374241","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T19:34:32Z","timestamp":1757619272000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/17534666251374241"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":22,"alternative-id":["10.1177\/17534666251374241"],"URL":"https:\/\/doi.org\/10.1177\/17534666251374241","relation":{"has-review":[{"id-type":"doi","id":"10.1177\/17534666251374241\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1177\/17534666251374241\/v3\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1177\/17534666251374241\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1177\/17534666251374241\/v1\/review3","asserted-by":"object"},{"id-type":"doi","id":"10.1177\/17534666251374241\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1177\/17534666251374241\/v1\/review4","asserted-by":"object"},{"id-type":"doi","id":"10.1177\/17534666251374241\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1177\/17534666251374241\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1177\/17534666251374241\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1177\/17534666251374241\/v1\/review2","asserted-by":"object"}]},"ISSN":["1753-4666","1753-4666"],"issn-type":[{"value":"1753-4666","type":"print"},{"value":"1753-4666","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9]]},"article-number":"17534666251374241"}}