{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T23:49:54Z","timestamp":1793836194109,"version":"4.6.1"},"reference-count":50,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T00:00:00Z","timestamp":1725926400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Kyowa Kirin Co., Ltd"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,10,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The SUNFLOWER study was initiated in Japan and South Korea to clarify the course of X-linked hypophosphatemic rickets\/osteomalacia (XLH); delineate its physical, mental, and financial burdens; and collect information on treatment. Here, we report cross-sectional data at the time of patient enrollment to better understand the real-world management and complications in patients with XLH and examine the effect of XLH on quality of life (QOL). This is an ongoing, longitudinal, observational cohort study of patients with a diagnosis of XLH. Data from 147 patients (118 in Japan and 29 in South Korea) were evaluated. In total, 77 children (mean age, 9.7\u00a0yr; 67.5% female) and 70 adults (mean age, 37.6\u00a0yr; 65.7% female) were enrolled. PHEX gene mutations were confirmed in 46\/77 (59.7%) children and 37\/70 (52.9%) adults. Most patients in both age groups were receiving a combination of phosphate and active vitamin D at baseline. The mean height Z-score was \u22122.21 among adults (male: \u22122.34; female: \u22122.14). The mean Rickets Severity Score in children was 1.62. Whereas children appeared to have low pain levels (mean revised faces pain scale score, 1.3), adults reported mild-to-moderate pain (mean Brief Pain Inventory pain severity, 2.02). Mean QOL in children (assessed using the 10-item short-form health survey for children) was low, with a score below normative level for physical functioning. In adults, results from the Western Ontario and McMaster Universities osteoarthritis index indicated the presence of pain, stiffness, and decreased physical function. The respective mean total days\/year of work\/school non-attendance due to symptoms\/complications and management of XLH were 0.7 and 3.0 among adults, and 6.4 and 6.1 among children. Our findings reconfirmed a relationship between disease and QOL in patients with XLH. We anticipate that these data will be important in enabling clinicians to understand the daily reality of patients with XLH.<\/jats:p>","DOI":"10.1093\/jbmrpl\/ziae118","type":"journal-article","created":{"date-parts":[[2024,9,8]],"date-time":"2024-09-08T20:48:55Z","timestamp":1725828535000},"source":"Crossref","is-referenced-by-count":10,"title":["Impact of X-linked hypophosphatemic rickets\/osteomalacia on health and quality of life: baseline data from the SUNFLOWER longitudinal, observational cohort study"],"prefix":"10.1093","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3803-4500","authenticated-orcid":false,"given":"Noriyuki","family":"Namba","sequence":"first","affiliation":[{"name":"Division of Pediatrics and Perinatology, Tottori University Faculty of Medicine , Tottori 683-8504 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4071-5372","authenticated-orcid":false,"given":"Nobuaki","family":"Ito","sequence":"additional","affiliation":[{"name":"Division of Therapeutic Development for Intractable Bone Diseases , Graduate School of Medicine and Faculty of Medicine, , Tokyo 113-0033 ,","place":["Japan"]},{"name":"The University of Tokyo , Graduate School of Medicine and Faculty of Medicine, , Tokyo 113-0033 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshimi","family":"Michigami","sequence":"additional","affiliation":[{"name":"Department of Bone and Mineral Research, Osaka Women\u2019s and Children\u2019s Hospital, Osaka Prefectural Hospital Organization , Osaka 594-1101 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hee Gyung","family":"Kang","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology , Department of Pediatrics, , Seoul 03080 ,","place":["South Korea"]},{"name":"Seoul National University Children\u2019s Hospital , Department of Pediatrics, , Seoul 03080 ,","place":["South Korea"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4483-4405","authenticated-orcid":false,"given":"Takuo","family":"Kubota","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Osaka University Graduate School of Medicine , Suita 565-0871 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Miyazaki","sequence":"additional","affiliation":[{"name":"Department of Radiology, National Center for Child Health and Development , Tokyo 157-8535 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayumi","family":"Shintani","sequence":"additional","affiliation":[{"name":"Department of Medical Statistics , Graduate School of Medicine, , Osaka 545-8585 ,","place":["Japan"]},{"name":"Osaka Metropolitan University , Graduate School of Medicine, , Osaka 545-8585 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daijiro","family":"Kabata","sequence":"additional","affiliation":[{"name":"Department of Medical Statistics , Graduate School of Medicine, , Osaka 545-8585 ,","place":["Japan"]},{"name":"Osaka Metropolitan University , Graduate School of Medicine, , Osaka 545-8585 ,","place":["Japan"]},{"name":"Center for Mathematical and Data Sciences, Kobe University , Hyogo 657-8501 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yayoi","family":"Nishida","sequence":"additional","affiliation":[{"name":"Medical Affairs Department, Kyowa Kirin Co., Ltd. , Tokyo 100-0004 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiji","family":"Fukumoto","sequence":"additional","affiliation":[{"name":"Tamaki-Aozora Hospital , Tokushima 779-3125 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiichi","family":"Ozono","sequence":"additional","affiliation":[{"name":"Center for Promoting Treatment of Intractable Diseases, ISEIKAI International General Hospital , Osaka 530-0052 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,9,10]]},"reference":[{"issue":"10","key":"2024101307054197900_ref1","doi-asserted-by":"publisher","first-page":"3615","DOI":"10.1210\/jc.83.10.3615","article-title":"Mutational analysis of PHEX gene in X-linked hypophosphatemia","volume":"83","author":"Dixon","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"issue":"11","key":"2024101307054197900_ref2","doi-asserted-by":"publisher","first-page":"4957","DOI":"10.1210\/jc.2002-021105","article-title":"Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets\/osteomalacia","volume":"87","author":"Yamazaki","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"issue":"17","key":"2024101307054197900_ref3","doi-asserted-by":"publisher","first-page":"1656","DOI":"10.1056\/nejmoa020881","article-title":"Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia","volume":"348","author":"Jonsson","year":"2003","journal-title":"N Engl J Med"},{"issue":"1","key":"2024101307054197900_ref4","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1186\/s13023-019-1014-8","article-title":"FGF23 and its role in X-linked hypophosphatemia-related morbidity","volume":"14","author":"Beck-Nielsen","year":"2019","journal-title":"Orphanet J Rare Dis"},{"issue":"7","key":"2024101307054197900_ref5","doi-asserted-by":"publisher","first-page":"1381","DOI":"10.1002\/jbmr.340","article-title":"A clinician\u2019s guide to X-linked hypophosphatemia","volume":"26","author":"Carpenter","year":"2011","journal-title":"J Bone Miner 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