Nationwide Turkish Cohort Study of Hypophosphatemic Rickets

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dc.contributor.authorSiklar, Zeynep
dc.contributor.authorTuran, Serap
dc.contributor.authorBereket, Abdullah
dc.contributor.authorBas, Firdevs
dc.contributor.authorGuran, Tulay
dc.contributor.authorAkberzade, Azad
dc.contributor.authorAbaci, Ayhan
dc.date.accessioned2024-02-23T14:38:10Z
dc.date.available2024-02-23T14:38:10Z
dc.date.issued2020
dc.departmentNEÜen_US
dc.description.abstractObjective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options. Methods: Here we present nationwide initial and follow-up data on HR. Results: From 24 centers, 166 patients were included in the study. Genetic analysis (n = 75) showed PHEX mutation in 80% of patients. The mean follow-up period was 6.7 +/- 2.4 years. During the first 3-years of treatment (n = 91), mild increase in phosphate, decrease in alkaline phosphatase and elevation in parathyroid hormone (PTH) levels were detected. The height standard deviation scores were -2.38, -2.77, -2.72, -2.47 at initial, 1st, 2nd and 3rd year of treatment, respectively (p > 0.05). On follow-up 36% of the patients showed complete or significant improvement in leg deformities and these patients had similar phosphate levels at presentation with better levels in 1st and 2nd years of treatment; even the treatment doses of phosphate were similar. Furthermore, 27 patients developed nephrocalcinosis (NC), the patients showed no difference in biochemical differences at presentation and follow-up, but 3rd year Pill was higher. However, higher treatment doses of phosphate and calcitriol were Found in the NC group. Conclusion: HR treatment and follow-up is challenging and our results showed higher treatment doses were associated with NC without any change in serum phosphate levels, suggesting that giving higher doses led to increased phosphaturia, probably through stimulation of fibroblast growth factor 23. However, higher calcitriol doses could improve bone deformities. Safer and more efficacious therapies are needed.en_US
dc.identifier.doi10.4274/jcrpe.galenos.2019.2019.0098
dc.identifier.endpage159en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue2en_US
dc.identifier.pmid31514490en_US
dc.identifier.scopus2-s2.0-85085960835en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage150en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2019.2019.0098
dc.identifier.urihttps://hdl.handle.net/20.500.12452/16396
dc.identifier.volume12en_US
dc.identifier.wosWOS:000538971700005en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal Of Clinical Research In Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectHypophosphatemic Ricketsen_US
dc.subjectPhexen_US
dc.subjectTreatmenten_US
dc.titleNationwide Turkish Cohort Study of Hypophosphatemic Ricketsen_US
dc.typeArticleen_US

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