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Hyperparathyroidism in Patients With X-Linked Hypophosphatemia |
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| Authors: | Anne-Lise Lecoq Philippe Chaumet-Riffaud Anne Blanchard Margot Dupeux Anya Rothenbuhler Benoit Lambert Emmanuel Durand Erika Boros Karine Briot Caroline Silve Bruno Francou Marie Piketty Philippe Chanson Sylvie Brailly-Tabard Agnès Linglart Peter Kamenický |
| Affiliation: | 1. Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Filière OSCAR, Assistance Publique-Hôpitaux de Paris (AP-HP), Le Kremlin-Bicêtre, France;2. Hôpital de Bicêtre, Service de Biophysique et Médecine Nucléaire, AP-HP, Le Kremlin-Bicêtre, France;3. Hôpital Européen Georges Pompidou, Centre d'Investigations Cliniques 1418, AP-HP, Le Kremlin-Bicêtre, France;4. Hôpital de Bicêtre, Service d'Anatomie et Cytologie Pathologiques, AP-HP, Le Kremlin-Bicêtre, France;5. Hôpital de Bicêtre, Endocrinologie et Diabétologie de l'Enfant, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Filière OSCAR, AP-HP, Le Kremlin-Bicêtre, France;6. Hôpital de Bicêtre, Service de Chirurgie Viscérale et Digestive, AP-HP, Le Kremlin-Bicêtre, France;7. Hôpital Cochin, Service de Rhumatologie, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate Filière OSCAR, AP-HP, Paris, France;8. Hôpital Cochin, Service de Génétique et Biologie Moléculaires, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Filière OSCAR, AP-HP, Paris, France;9. Hôpital de Bicêtre, Laboratoire de Génétique Moléculaire, Pharmacogénétique et Hormonologie, AP-HP, Le Kremlin-Bicêtre, France;10. Hôpital Necker, Service d'Explorations fonctionnelles Physiologie et Neurophysiologie, AP-HP, Paris, France;11. Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Filière OSCAR, Assistance Publique-Hôpitaux de Paris (AP-HP), Le Kremlin-Bicêtre, France Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, Le Kremlin-Bicêtre, France;12. Hôpital de Bicêtre, Endocrinologie et Diabétologie de l'Enfant, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphate, Filière OSCAR, AP-HP, Le Kremlin-Bicêtre, France Université Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, Le Kremlin-Bicêtre, France |
| Abstract: | X-linked hypophosphatemia (XLH) is characterized by increased activity of circulating FGF23 resulting in renal phosphate wasting and abnormal bone mineralization. Hyperparathyroidism may develop in XLH patients; however, its prevalence, pathogenesis, and clinical presentation are not documented. This observational study (CNIL 171036 v 0) recruited XLH adult patients in a single tertiary referral center. Each patient was explored in standardized conditions and compared with two healthy volunteers, matched for sex, age, and 25-OH vitamin D concentrations. The primary endpoint was the proportion of patients with hyperparathyroidism. The secondary endpoints were the factors influencing serum parathyroid hormone (PTH) concentrations and the prevalence of hypercalcemic hyperparathyroidism. Sixty-eight patients (51 women, 17 men) were enrolled and matched with 136 healthy volunteers. Patients had higher PTH concentrations compared with healthy controls (53.5 ng/L, interquartile range [IQR] 36.7–72.7 versus 36.0 ng/L, IQR 27.7–44.0, p < .0001). Hyperparathyroidism was observed in 17 patients of 68 (25%). In patients, a positive relationship between PTH and calcium concentrations and a negative relationship between PTH and phosphate concentrations were observed. Seven (10%) patients (3 premenopausal women, 1 postmenopausal woman, and 3 men) were diagnosed with hypercalcemic hyperparathyroidism. All underwent parathyroid surgery, with consecutive normalization of calcium and PTH concentrations. Hyperparathyroidism is a frequent complication in XLH adult patients. Disruption of the physiological regulation of PTH secretion contributes to parathyroid disease. Early-onset hypercalcemic hyperparathyroidism can be effectively and safely cured by surgical resection. © 2020 American Society for Bone and Mineral Research. |
| Keywords: | FGF23 HYPERPARATHYROIDISM PHEX PARATHYROID HORMONE X-LINKED HYPOPHOSPHATEMIA |