Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients.

Autor: Bosman A; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000, CA, Rotterdam, The Netherlands., Appelman-Dijkstra NM; Department of Internal Medicine, Leiden University Medical Center, Leiden, The Netherlands., Boot AM; Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., de Borst MH; Department of Internal Medicine, University Medical Center Groningen, Groningen, The Netherlands., van de Ven AC; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., de Jongh RT; Department of Internal Medicine, Amsterdam University Medical Center, Vrije Universiteit, Amsterdam, The Netherlands., Bökenkamp A; Department of Pediatric Nephrology, Amsterdam University Medical Center, Emma Children's Hospital, Amsterdam, The Netherlands., van den Bergh JP; Department of Internal Medicine, VieCuri Medical Center, Venlo, The Netherlands., van der Eerden BCJ; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000, CA, Rotterdam, The Netherlands., Zillikens MC; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000, CA, Rotterdam, The Netherlands. m.c.zillikens@erasmusmc.nl.
Jazyk: angličtina
Zdroj: Calcified tissue international [Calcif Tissue Int] 2024 Mar; Vol. 114 (3), pp. 255-266. Date of Electronic Publication: 2024 Jan 16.
DOI: 10.1007/s00223-023-01172-2
Abstrakt: X-linked hypophosphatemia (XLH) is the most common monogenetic cause of chronic hypophosphatemia, characterized by rickets and osteomalacia. 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 PHEX mutation in 96.8%. Median (range) Z-score for height was - 2.5 (- 5.5; 1.0) in adults and - 1.4 (- 3.7; 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.
(© 2024. The Author(s).)
Databáze: MEDLINE
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