{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T13:18:40Z","timestamp":1771593520802,"version":"3.50.1"},"reference-count":18,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2021,9,25]],"date-time":"2021-09-25T00:00:00Z","timestamp":1632528000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,1,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>X-linked hypophosphataemic rickets (XLH) is a rare disease caused by a mutation in the phosphate-regulating neutral endopeptidase (PHEX) gene, located on the X chromosome. This gene encodes the phosphate-regulating endopeptidase, and its inactivation leads to increased levels of circulating phosphatonins responsible for renal phosphate loss. The treatment for XLH is still carried out with long-term administration of phosphate and calcitriol, which can be complicated by hyperparathyroidism, nephrocalcinosis, renal failure, and hypertension. We describe the case of a four-decade follow-up patient with XLH. When she was diagnosed, at 19\u00a0years, due to bone pain and deformities, she was put on therapy with phosphorus and cholecalciferol. Despite the clinical improvement, serum phosphorus remained difficult to control. At the age of 44\u00a0years, she developed tertiary hyperparathyroidism and was submitted to parathyroidectomy. Five years later, parathyroid hyperfunction recurred. This time, cinacalcet was started, 30\u2009mg alternating with 60\u2009mg\/day. Currently, she is 59-years old and remains with controlled mineral metabolism. The genetic study of this patient revealed a nonsense heterozygous mutation (c.501G&amp;gt;A) in PHEX gene that was not previously described. In this case, the off-label use of cinacalcet resulted in the normalisation of serum parathormone and phosphorus levels, eliminated recurrent secondary hyperparathyroidism, which aggravates the bone fragility inherent to XLH, and prevented a new parathyroidectomy. This report also adds important information to the genetic basis of XLH with the identification of a new nonsense mutation of the PHEX gene.<\/jats:p>","DOI":"10.1093\/mrcr\/rxab031","type":"journal-article","created":{"date-parts":[[2021,9,25]],"date-time":"2021-09-25T08:22:09Z","timestamp":1632558129000},"page":"145-149","source":"Crossref","is-referenced-by-count":3,"title":["X-linked hypophosphataemic rickets: Report of a novel <i>PHEX<\/i> mutation and cinacalcet as adjuvant therapy in the mineral metabolism control"],"prefix":"10.1093","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9486-9791","authenticated-orcid":false,"given":"Daniela","family":"Cavaco","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Instituto Portugu\u00eas de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro","family":"Amaro","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Hospital Beatriz \u00c2ngelo, Lisbon, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joana","family":"Sim\u00f5es-Pereira","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Instituto Portugu\u00eas de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal"},{"name":"NOVA Medical School\/Faculdade de Ci\u00eancias M\u00e9dicas, Universidade Nova de Lisboa, Lisbon, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Concei\u00e7\u00e3o","family":"Pereira","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Instituto Portugu\u00eas de Oncologia de Lisboa Francisco Gentil, Lisbon, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,9,25]]},"reference":[{"key":"2022011123194183700_R1","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1515\/jpem-2014-0366","article-title":"Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets","volume":"28","author":"Razali","year":"2015","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2022011123194183700_R2","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s11154-017-9408-1","article-title":"X-linked hypophosphatemia and growth","volume":"18","author":"Fuente","year":"2017","journal-title":"Rev Endocr Metab Disord"},{"key":"2022011123194183700_R3","doi-asserted-by":"crossref","DOI":"10.1186\/1471-2350-12-116","article-title":"Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type","volume":"12","author":"Morey","year":"2011","journal-title":"BMC Med Genet"},{"key":"2022011123194183700_R4","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1007\/s00439-009-0631-z","article-title":"PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets","volume":"125","author":"Gaucher","year":"2009","journal-title":"Hum Genet"},{"key":"2022011123194183700_R5","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.3892\/ijmm.2016.2796","article-title":"Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets","volume":"38","author":"Li","year":"2016","journal-title":"Int J Mol Med"},{"key":"2022011123194183700_R6","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1016\/S0140-6736(13)61650-5","article-title":"Rickets","volume":"383","author":"Elder","year":"2014","journal-title":"Lancet"},{"key":"2022011123194183700_R7","article-title":"Management of X-linked hypophosphatemia in adults","volume":"103S","author":"Lecoq","year":"2020","journal-title":"Metabolism"},{"key":"2022011123194183700_R8","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/s00590-014-1496-y","article-title":"Hypophosphatemic rickets: etiology, clinical features and treatment","volume":"25","author":"Pavone","year":"2014","journal-title":"Eur J Orthop Surg Traumatol"},{"key":"2022011123194183700_R9","doi-asserted-by":"crossref","first-page":"658","DOI":"10.2215\/CJN.04981107","article-title":"Calcimimetics as an adjuvant treatment for familial hypophosphatemic rickets","volume":"3","author":"Alon","year":"2008","journal-title":"Clin J Am Soc Nephrol"},{"key":"2022011123194183700_R10","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1111\/cen.13346","article-title":"Cinacalcet as an alternative to phosphate therapy in X-linked hypophosphatemic rickets","volume":"87","author":"Alon","year":"2017","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2022011123194183700_R11","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"},{"key":"2022011123194183700_R12","doi-asserted-by":"crossref","first-page":"S101","DOI":"10.1530\/EJE-08-0383","article-title":"A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet","volume":"159","author":"R\u00e6der","year":"2008","journal-title":"Eur J Endocrinol"},{"key":"2022011123194183700_R13","first-page":"1","article-title":"Three-year successful cinacalcet treatment of secondary hyperparathyroidism in a patient with x-linked dominant hypophosphatemic rickets: a case report","volume":"479641","author":"Grove-Laugesen","year":"2014","journal-title":"Case Rep Endocrinol"},{"key":"2022011123194183700_R14","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1515\/jpem-2019-0258","article-title":"Cinacalcet treatment experience in hereditary vitamin D resistant rickets","volume":"33","author":"Lucas","year":"2020","journal-title":"J Pediatr Endocrinol Metab"},{"key":"2022011123194183700_R15","doi-asserted-by":"crossref","first-page":"172","DOI":"10.4274\/jcrpe.3486","article-title":"The effectiveness of cinacalcet as an adjunctive therapy for hereditary 1,25 Dihydroxyvitamin D3-resistant rickets","volume":"9","author":"Akinci","year":"2017","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"2022011123194183700_R16","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":"2022011123194183700_R17","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2020.00338","article-title":"Clinical evidence for the benefits of burosumab therapy for X-Linked Hypophosphatemia (XLH) and other conditions in adults and children","volume":"11","author":"Schindeler","year":"2020","journal-title":"Front Endocrinol"},{"key":"2022011123194183700_R18","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1007\/s00223-019-00568-3","article-title":"Continued beneficial effects of burosumab in adults with X-linked hypophosphatemia: results from a 24-week treatment continuation period after a 24-week double-blind placebo-controlled period","volume":"105","author":"Portale","year":"2019","journal-title":"Calcif Tissue Int"}],"container-title":["Modern Rheumatology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/mrcr\/advance-article-pdf\/doi\/10.1093\/mrcr\/rxab031\/41818914\/rxab031.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/mrcr\/article-pdf\/6\/1\/145\/42106738\/rxab031.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/mrcr\/article-pdf\/6\/1\/145\/42106738\/rxab031.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T02:47:06Z","timestamp":1642560426000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/mrcr\/article\/6\/1\/145-149\/6375223"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,25]]},"references-count":18,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,9,25]]},"published-print":{"date-parts":[[2022,1,7]]}},"URL":"https:\/\/doi.org\/10.1093\/mrcr\/rxab031","relation":{},"ISSN":["2472-5625"],"issn-type":[{"value":"2472-5625","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2022,1,1]]},"published":{"date-parts":[[2021,9,25]]}}}