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Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands
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Introduction Calcium and phosphate imbalance has been linked to several disorders such as cardiovascular disease, metabolic syndrome, osteoporosis and mortality ( 1 , 2 , 3 , 4 ). Some of these conditions display marked sex
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calcium Within the sex-specific reference range (<300 mg/24-h in men; <250 mg/24-h in women; or <4 mg/kg/24-h in both sexes) Avoid hypercalciuria. Avoid hypercalciuria. Calcium × phosphate product <55 mg 2 /dL 2 <55 mg 2 /dL 2 <55 mg 2
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hormone required for the maintenance of the homeostasis of calcium and phosphate, can lead to skeletal, renal, and cardiovascular complications, including hypercalcemia, hypophosphatemia, osteoporosis, fragility fractures, bone pain, nephrolithiasis
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Department of Renal Physiology, Necker Hospital, Université de Paris, Paris, France
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to clinical events related to calcium and phosphate metabolism such as fractures, biochemical abnormalities and cardiovascular events like vascular calcifications ( 1 ). The mineral disorders were added to the previous so-called renal osteodystrophy
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Introduction Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS; nephrotic syndrome, type 14; NPHS14; MIM 617575), a multi-systemic disorder of sphingolipid metabolism first described in 2017, is caused by variants in SGPL1 , in
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Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Le Kremlin Bicêtre, France
Plateforme d’Expertise Paris Sud Maladies Rares and Filière OSCAR, Bicêtre Paris Sud, Le Kremlin Bicêtre, France
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Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Le Kremlin Bicêtre, France
Plateforme d’Expertise Paris Sud Maladies Rares and Filière OSCAR, Bicêtre Paris Sud, Le Kremlin Bicêtre, France
INSERM U1169, Hôpital Bicêtre, Le Kremlin Bicêtre, et Université Paris-Saclay, Le Kremlin Bicêtre, France
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APHP, Department of Pediatric Orthopedic Surgery, Necker Hospital, Paris, France
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). The PHEX protein is expressed in the mineralized tissues, i.e. the bone matrix and the teeth. When PHEX is impaired, fibroblast growth factor 23 (FGF23) is produced in excess, leading to renal phosphate wasting and insufficient production of 1,25(OH)2
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Paris Saclay University, AP-HP, DMU SEA, Endocrinology and Diabetes for Children, Le Kremlin Bicêtre, France
Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Le Kremlin Bicêtre, France
Filière OSCAR and Platform of Expertise for Rare Diseases Paris-Saclay, Bicêtre Paris-Saclay Hospital, INSERM-U1185, Le Kremlin Bicêtre, France
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APHP-Center for Rare Diseases of Calcium and Phosphate Metabolism, Paris, France
Hôpital Bretonneau, Service de Médecine Bucco-Dentaire, GH Nord Université de Paris, Paris, France
Université de Paris, Inserm U1163, Institute Imagine, Paris, France
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APHP-Center for Rare Diseases of Calcium and Phosphate Metabolism, Paris, France
Hôpital Bretonneau, Service de Médecine Bucco-Dentaire, GH Nord Université de Paris, Paris, France
Université de Paris, URP2496, Paris, France
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Université de Paris Laboratoire ECEVE INSERM, UMR1123, Hôpital Robert Debré, Paris, France
Centre de Reference, Maladies Orales et Dentaires Rares, Hôpital Rothschild, APHP, Paris, France
Filière de Santé Maladies Rares TETECOU, Malformations Rares de la tête, du cou et des dents, Hôpital Necker, Paris, France
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Member States to develop plans and strategies on this topic. X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, and lifelong phosphate-wasting disorder characterized by pathological elevations in fibroblast growth factor (FGF) 23
Division of Endocrinology, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy
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APHP, Department of Endocrinology and Diabetology for Children, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
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IRCCS SDN, Naples, Italy
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APHP, Department of Endocrinology and Reproductive Diseases, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
Paris Sud – Paris Saclay University, Faculté de Médecine, Le Kremlin-Bicêtre, France
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APHP, Department of Molecular Genetics, Pharmacogenetics and Hormonology, Bicêtre Paris-Saclay Hospital, Le Kremlin-Bicêtre, France
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Hôpital Necker EnfantsMalades APHP, INSERM U1151, Paris, France
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APHP, Department of Endocrinology and Diabetology for Children, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
APHP, Department of Adolescent Medicine, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
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APHP, Department of Endocrinology and Diabetology for Children, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
Paris Sud – Paris Saclay University, Faculté de Médecine, Le Kremlin-Bicêtre, France
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Introduction X-linked hypophosphatemia (XLH) is a rare disease caused by inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked ( PHEX ) gene and characterized by chronic hypophosphatemia. Impaired function of PHEX
Centre de Référence des Maladies Rares du Calcium et du Phosphore Filière de Santé Maladies Rares OSCAR, Paris, France
Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, INSERM, UMRS1138, Paris, France
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Université Paris-Saclay, Inserm U1185, Physiologie et Physiopathologie Endocriniennes, Assistance Publique-Hôpitaux de Paris, Service d’Endocrinologie et Diabète de l’Enfant, Centre de Référence des Maladies Rares du Calcium et du Phosphore et Filière de Santé Maladies Rares OSCAR, Hôpital Bicêtre Paris Saclay, Le Kremlin-Bicêtre, France
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Centre de Référence des Maladies Rares du Calcium et du Phosphore Filière de Santé Maladies Rares OSCAR, Paris, France
Assistance Publique-Hôpitaux de Paris, Institut Necker-Enfants Malades, INSERM U1151 – CNRS UMR 8253, Paris, France
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Association Francophone de Chirurgie Endocrinienne (AFCE), France
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Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, Biochimie et Génétique Moléculaires, Paris, France
INSERM, U1169, Université Paris Sud, Hôpital Bicêtre, Le Kremlin Bicêtre, France
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INSERM, U1418, CIC-EC, Hôpital Européen Georges Pompidou, Paris, France
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Centre de Référence des Maladies Rares du Calcium et du Phosphore Filière de Santé Maladies Rares OSCAR, Paris, France
Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, INSERM, UMRS1138, Paris, France
CNRS, ERL8228, Paris, France
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.125 Magnesium salt, n (%) 69 (31.8) 44 (40.0) 25 (23.4) 0.009 0.363 Thiazide diuretics, n (%) 26 (12.0) 11 (10.0) 15 (14.0) 0.408 0.124 Non-calcium-based phosphate binder, n (%) 6 (2.8) 1 (0.9) 5 (4.7) 0.116 0
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Introduction About 80–90% of primary hyperparathyroidism (pHPT) cases are caused by parathyroid adenoma. Long-term increased parathyroid hormone (PTH) secretion leads to a generalized disorder of calcium, phosphate and bone metabolism. The