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Disease manifestations and treatment of XLH patients in the Netherlands are currently unknown. Characteristics of XLH patients participating in the Dutch observational registry for genetic hypophosphatemia and acquired renal phosphate wasting were analyzed. Eighty XLH patients, including 29 children, were included. Genetic testing, performed in 78.8% of patients, showed a <jats:italic>PHEX<\/jats:italic> mutation in 96.8%. Median (range) Z-score for height was \u2212\u00a02.5 (\u2212\u00a05.5; 1.0) in adults and \u2212\u00a01.4 (\u2212\u00a03.7; 1.0) in children. Many patients were overweight or obese: 64.3% of adults and 37.0% of children. All children received XLH-related medication e.g., active vitamin D, phosphate supplementation or burosumab, while 8 adults used no medication. Lower age at start of XLH-related treatment was associated with higher height at inclusion. Hearing loss was reported in 6.9% of children and 31.4% of adults. Knee deformities were observed in 75.0% of all patients and osteoarthritis in 51.0% of adult patients. Nephrocalcinosis was observed in 62.1% of children and 33.3% of adults. Earlier start of XLH-related treatment was associated with higher risk of nephrocalcinosis and detection at younger age. Hyperparathyroidism longer than six months was reported in 37.9% of children and 35.3% of adults. This nationwide study confirms the high prevalence of adiposity, hearing loss, bone deformities, osteoarthritis, nephrocalcinosis and hyperparathyroidism in Dutch XLH patients. Early start of XLH-related treatment appears to be beneficial for longitudinal growth but may increase development of nephrocalcinosis.<\/jats:p>","DOI":"10.1007\/s00223-023-01172-2","type":"journal-article","created":{"date-parts":[[2024,1,16]],"date-time":"2024-01-16T10:02:32Z","timestamp":1705399352000},"page":"255-266","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients"],"prefix":"10.1007","volume":"114","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7466-1472","authenticated-orcid":false,"given":"A.","family":"Bosman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. M.","family":"Appelman-Dijkstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. 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The institution of MZ and BE has received a research grant from Kyowa Kirin and MZ is an unpaid board member of the steering committee of the Kyowa Kirin International XLH registry. The institution of ABT received research funds, consulting and speakers fees from Kyowa Kirin. The institution of NA received research funds and speakers fees from Kyowa Kirin. JB received consulting fees from UCB and Amgen. MB, AV, RJ, and ABK have nothing to declare.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This study was reviewed by the medical ethics committees of all participating hospitals. All participants provided written informed consent to participate in the study and to have their medical files reviewed.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}