{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T05:30:46Z","timestamp":1767850246576,"version":"3.49.0"},"reference-count":45,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,12,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0387_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Hereditary hypophosphatemic rickets (HR) is conventionally treated with phosphate and calcitriol. Exploring genotype and phenotypic spectrum of X-linked hypophosphatemic rickets (XLHR), focusing on short-term, long-term, and pubertal impact of conventional treatment was aimed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0387_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Sixteen patients from 12 unrelated families with HR were analyzed for phosphate regulating endopeptidase homolog X-linked (<jats:italic>PHEX)<\/jats:italic> mutation. Initially Sanger sequencing analysis was performed. If <jats:italic>PHEX<\/jats:italic> mutation was not detected, multiplex ligation-dependent probe amplification (MLPA) was performed. If molecular defect was detected, first-degree relatives were analyzed. Thirteen patients (81%) and five first-degree relatives with XLHR were evaluated for genotype\u2013phenotype or gender-phenotype correlation. Clinical characteristics and response to conventional treatment were determined retrospectively.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0387_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Nine different <jats:italic>PHEX<\/jats:italic> mutations were identified; four splice-site, three point mutations, and two single exon deletions. Four were novel mutations. Despite conventional treatment, median adult height was lower than median height on admission (\u22123.8 and\u00a0\u22122.3 SDS, respectively), metabolic and radiographic recovery were not achieved, adherence was low (30%). Although mean adult height was better in compliant patients than noncompliants (\u22122.6 vs.\u00a0\u22123.7 SDS, respectively), they were still short. Correlation between phenotype and genotype or gender could not be shown. Median phosphate decreased significantly throughout puberty (p=0.014). Median pubertal height was lower than prepubertal height (\u22124.4 vs.\u00a0\u22123.6 SDS; respectively), pubertal growth spurt was not observed. Among five patients with a follow-up longer than five years, three had nephrocalcinosis (60%), two had hyperparathyroidism (40%), 4\/6 (33%) required correction osteotomy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0387_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Conventional treatment appears to have limited effect on metabolic, clinical and radiographic recovery in XLHR. Metabolic control and growth worsened during puberty. Although, long-term adverse effects are yet to be seen, introduction of burosumab as first-line treatment may be an alternative after infancy.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0387","type":"journal-article","created":{"date-parts":[[2021,9,15]],"date-time":"2021-09-15T20:27:49Z","timestamp":1631737669000},"page":"1573-1584","source":"Crossref","is-referenced-by-count":6,"title":["Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation"],"prefix":"10.1515","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3379-6407","authenticated-orcid":false,"given":"Ayfer","family":"Alikasifoglu","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9113-8683","authenticated-orcid":false,"given":"Yagmur","family":"Unsal","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elmas Nazli","family":"Gonc","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeynep Alev","family":"Ozon","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nurgun","family":"Kandemir","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology, Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet","family":"Alikasifoglu","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Medical Genetics , Hacettepe University Faculty of Medicine , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,9,16]]},"reference":[{"key":"2022011514184796831_j_jpem-2021-0387_ref_001","doi-asserted-by":"crossref","unstructured":"Carpenter, TO, Imel, EA, Holm, IA, Jan de Beur, SM, Insogna, KL. 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