{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T13:27:58Z","timestamp":1780579678509,"version":"3.54.1"},"reference-count":14,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T00:00:00Z","timestamp":1707436800000},"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":[[2024,7,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>X-linked hypophosphatemia (XLH) is a rare genetic disorder causing renal phosphate wasting, which predicates musculoskeletal manifestations such as rickets. Diagnosis is often delayed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To explore the recording of clinical features, and the diagnostic odyssey of children and adolescents with XLH in primary care electronic healthcare records (EHRs) in the United Kingdom.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Using the Optimum Patient Care Research Database, individuals aged 20 years or younger after January 1, 2000, at date of recorded XLH diagnosis were identified using Systematized Nomenclature of Medicine Clinical Terms (SNOMED)\/Read codes and age-matched to 100 controls. Recording of XLH-related clinical features was summarized then compared between cases and controls using chi-squared or Fisher's exact test.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>In total, 261 XLH cases were identified; 99 met the inclusion criteria. Of these, 84\/99 had at least 1 XLH-related clinical feature recorded in their primary care EHR. Clinical codes for rickets, genu varum, and low phosphate were recorded prior to XLH diagnosis in under 20% of cases (median of 1, 1, and 3 years prior, respectively). Rickets, genu varum, low phosphate, nephrocalcinosis, and growth delay were significantly more likely to be recorded in cases.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>This characterization of the EHR phenotypes of children and adolescents with XLH may inform future case-finding approaches to expedite diagnosis in primary care.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgae069","type":"journal-article","created":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T17:51:27Z","timestamp":1707501087000},"page":"2012-2018","source":"Crossref","is-referenced-by-count":5,"title":["The Diagnostic Odyssey in Children and Adolescents With X-linked Hypophosphatemia: Population-Based, Case\u2013Control Study"],"prefix":"10.1210","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8459-4739","authenticated-orcid":false,"given":"Freya","family":"Boardman-Pretty","sequence":"first","affiliation":[{"name":"Mendelian , London, EC1V 9EY , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0061-979X","authenticated-orcid":false,"given":"Ashley Kieran","family":"Clift","sequence":"additional","affiliation":[{"name":"Mendelian , London, EC1V 9EY , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadley","family":"Mahon","sequence":"additional","affiliation":[{"name":"Mendelian , London, EC1V 9EY , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Sawoky","sequence":"additional","affiliation":[{"name":"International Medical Affairs, Kyowa Kirin, Galashiels, TD1 1QH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M Zulf","family":"Mughal","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology & Metabolic Bone Diseases, Royal Manchester Children\u2019s Hospital , Manchester, M13 9WL , UK"},{"name":"The Faculty of Biology, Medicine & Health, University of Manchester , Manchester, M13 9PL , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2024,2,9]]},"reference":[{"issue":"3","key":"2024071216415889900_dgae069-B1","doi-asserted-by":"crossref","first-page":"e871","DOI":"10.1210\/clinem\/dgz203","article-title":"Prevalence and mortality of individuals with X-linked hypophosphatemia: a United Kingdom real-world data analysis","volume":"105","author":"Hawley","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2024071216415889900_dgae069-B2","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1530\/EJE-08-0818","article-title":"Incidence and prevalence of nutritional and hereditary rickets in southern Denmark","volume":"160","author":"Beck-Nielsen","year":"2009","journal-title":"Eur J Endocrinol"},{"issue":"2","key":"2024071216415889900_dgae069-B3","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1530\/EJE-15-0515","article-title":"Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications","volume":"174","author":"Rafaelsen","year":"2016","journal-title":"Eur J Endocrinol"},{"issue":"2","key":"2024071216415889900_dgae069-B4","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1038\/ng1095-130","article-title":"A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets","volume":"11","author":"The HYP Consortium","year":"1995","journal-title":"Nat Genet"},{"issue":"1","key":"2024071216415889900_dgae069-B5","doi-asserted-by":"crossref","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":"2024071216415889900_dgae069-B6","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/s41581-019-0152-5","article-title":"Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia","volume":"15","author":"Haffner","year":"2019","journal-title":"Nat Rev Nephrol"},{"key":"2024071216415889900_dgae069-B7","volume-title":"Adam MP, Mirzaa GM, Pagon RA","author":"Ruppe","year":"1993"},{"issue":"10","key":"2024071216415889900_dgae069-B8","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.1007\/s00198-021-05997-1","article-title":"Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review","volume":"32","author":"Giannini","year":"2021","journal-title":"Osteoporos Int"},{"issue":"21","key":"2024071216415889900_dgae069-B9","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1056\/NEJMoa1714641","article-title":"Burosumab therapy in children with X-linked hypophosphatemia","volume":"378","author":"Carpenter","year":"2018","journal-title":"N Engl J Med"},{"issue":"10189","key":"2024071216415889900_dgae069-B10","doi-asserted-by":"crossref","first-page":"2416","DOI":"10.1016\/S0140-6736(19)30654-3","article-title":"Burosumab versus continuation of conventional therapy in children with X-linked hypophosphatemia: a randomised, active-controlled, open-label, phase 3 trial","volume":"393","author":"Imel","year":"2019","journal-title":"Lancet"},{"key":"2024071216415889900_dgae069-B11","author":"Black N, Martineau F, Manacorda T.","year":"2015"},{"key":"2024071216415889900_dgae069-B12","first-page":"39","article-title":"Data-Resource profile: United Kingdom pptimum patient care research database","volume":"14","author":"Lynam","year":"2023","journal-title":"Pragmat Obs Res"},{"key":"2024071216415889900_dgae069-B13","doi-asserted-by":"crossref","unstructured":"Boardman-Pretty F, Clift AK, Mahon H, Sawoky N, Mughal MZ. \u00a0Supplementary data for \u201cThe diagnostic odyssey in children and adolescents with X-linked hypophosphataemia: population-based case-control study\u201d. 2024. https:\/\/doi.org\/10.6084\/m9.figshare.25250272.v1","DOI":"10.1210\/clinem\/dgae069"},{"issue":"9596","key":"2024071216415889900_dgae069-B14","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1016\/S0140-6736(07)61602-X","article-title":"The strengthening the reporting of observational studies in epidemiology (STROBE) statement: guidelines for reporting observational studies","volume":"370","author":"von Elm","year":"2007","journal-title":"Lancet"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcem\/advance-article-pdf\/doi\/10.1210\/clinem\/dgae069\/57050333\/dgae069.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/109\/8\/2012\/58530367\/dgae069.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/109\/8\/2012\/58530367\/dgae069.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,12]],"date-time":"2024-07-12T16:43:02Z","timestamp":1720802582000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/109\/8\/2012\/7604462"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,9]]},"references-count":14,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2024,2,9]]},"published-print":{"date-parts":[[2024,7,12]]}},"URL":"https:\/\/doi.org\/10.1210\/clinem\/dgae069","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,8]]},"published":{"date-parts":[[2024,2,9]]}}}