{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T06:12:35Z","timestamp":1786947155415,"version":"build-2736575974"},"reference-count":59,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T00:00:00Z","timestamp":1707436800000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Disease\u2010related variants in <jats:italic>PHEX<\/jats:italic> cause XLH by an increase of fibroblast growth factor 23 (FGF23) circulating levels, resulting in hypophosphatemia and 1,25(OH)<jats:sub>2<\/jats:sub> vitamin D deficiency. XLH manifests in early life with rickets and persists in adulthood with osseous and extraosseous manifestations. Conventional therapy (oral phosphate and calcitriol) improves some symptoms, but evidence show that it is not completely effective, and it can lead to nephrocalcinosis (NC) and hyperparathyroidism (HPT). Burosumab (anti\u2010FGF23 antibody) has shown to be effective and safety in the clinical trials.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The current real\u2010world collaborative study evaluated genetic, clinical and laboratory data of XLH Brazilian adult patients treated with burosumab.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Nineteen unrelated patients were studied. Patients reported pain, limb deformities and claudication, before burosumab initiation. 78% of them were previously treated with conventional therapy. The severity of the disease was moderate to severe (15 patients with score\u2009&gt;5). At the baseline, 3 patients presented NC (16.7%) and 12 HPT (63%). After 16\u2009\u00b1\u20098.4\u2009months under burosumab, we observed a significant: increase in stature (<jats:italic>p<\/jats:italic>\u2009=\u20090.02), in serum phosphate from 1.90\u2009\u00b1\u20090.43 to 2.67\u2009\u00b1\u20090.52\u2009mg\/dL (<jats:italic>p<\/jats:italic>\u2009=\u20090.02); in TmP\/GFR from 1.30\u2009\u00b1\u20090.46 to 2.27\u2009\u00b1\u20090.64\u2009mg\/dL (<jats:italic>p<\/jats:italic>\u2009=\u20090.0001), in 1,25 (OH)<jats:sub>2<\/jats:sub> D from 50.5\u2009\u00b1\u200923.3 to 71.1\u2009\u00b1\u200919.1\u2009pg\/mL (<jats:italic>p<\/jats:italic>\u2009=\u20090.03), and a decrease in iPTH from 86.8\u2009\u00b1\u200937.4\u2009pg\/mL to 66.5\u2009\u00b1\u200931.1 (<jats:italic>p<\/jats:italic>\u2009=\u20090.002). Nineteen variants were found (10 <jats:italic>novel<\/jats:italic>). HPT tended to develop in patients with truncated <jats:italic>PHEX<\/jats:italic> variants (<jats:italic>p<\/jats:italic>\u2009=\u20090.06).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study confirms the efficacy and safety of burosumab on XLH adult patients observed in clinical trials. Additionally, we observed a decrease in iPTH levels in patients with moderate to severe HPT at the baseline.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2387","type":"journal-article","created":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T05:13:48Z","timestamp":1707542028000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Real\u2010world data of Brazilian adults with X\u2010linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6084-7831","authenticated-orcid":false,"given":"Maria Helena","family":"Vaisbich","sequence":"first","affiliation":[{"name":"University of S\u00e3o Paulo School of Medicine  Sao Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2105-7156","authenticated-orcid":false,"given":"Ant\u00f4nio C\u00e9sar Paulillo","family":"de Cillo","sequence":"additional","affiliation":[{"name":"Pontif\u00edcia Universidade Cat\u00f3lica  Campinas Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7276-581X","authenticated-orcid":false,"given":"B\u00e1rbara Campolina C.","family":"Silva","sequence":"additional","affiliation":[{"name":"Hospital Fel\u00edcio Rocho, Osteometabolism Unit of Santa Casa de Belo Horizonte Professor of Medicine at University Center of Belo Horizonte \u2013 UNIBH  Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7332-9841","authenticated-orcid":false,"given":"Catarina Brasil","family":"D\u00c1lva","sequence":"additional","affiliation":[{"name":"Federal University of Cear\u00e1  Fortaleza Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0457-2981","authenticated-orcid":false,"given":"\u00c9rico Higino","family":"de Carvalho","sequence":"additional","affiliation":[{"name":"Instituto de Medicina Integrada Professor Fernado Figueira, recife Federal University of Pernambuco  Recife Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana M. 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