Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Identifieur interne : 000013 ( Main/Exploration ); précédent : 000012; suivant : 000014Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Auteurs : Michaël R. Laurent [Belgique] ; Jean De Schepper [Belgique] ; Dominique Trouet [Belgique] ; Nathalie Godefroid [Belgique] ; Emese Boros [Belgique] ; Claudine Heinrichs [Belgique] ; Bert Bravenboer [Belgique] ; Brigitte Velkeniers [Belgique] ; Johan Lammens [Belgique] ; Pol Harvengt [Belgique] ; Etienne Cavalier [Belgique] ; Jean-François Kaux [Belgique] ; Jacques Lombet [Belgique] ; Kathleen De Waele [Belgique] ; Charlotte Verroken [Belgique] ; Koenraad Van Hoeck [Belgique] ; Geert R. Mortier [Belgique] ; Elena Levtchenko [Belgique] ; Johan Vande Walle [Belgique]Source :
- Frontiers in endocrinology [ 1664-2392 ] ; 2021.
Abstract
X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting and impaired skeletal and dental mineralization. Recently, international guidelines for the diagnosis and treatment of this condition have been published. However, more specific recommendations are needed to provide guidance at the national level, considering resource availability and health economic aspects. A national multidisciplinary group of Belgian experts convened to discuss translation of international best available evidence into locally feasible consensus recommendations. Patients with XLH may present to a wide array of primary, secondary and tertiary care physicians, among whom awareness of the disease should be raised. XLH has a very broad differential-diagnosis for which clinical features, biochemical and genetic testing in centers of expertise are recommended. Optimal care requires a multidisciplinary approach, guided by an expert in metabolic bone diseases and involving (according to the individual patient's needs) pediatric and adult medical specialties and paramedical caregivers, including but not limited to general practitioners, dentists, radiologists and orthopedic surgeons. In children with severe or refractory symptoms, FGF23 inhibition using burosumab may provide superior outcomes compared to conventional medical therapy with phosphate supplements and active vitamin D analogues. Burosumab has also demonstrated promising results in adults on certain clinical outcomes such as pseudofractures. In summary, this work outlines recommendations for clinicians and policymakers, with a vision for improving the diagnostic and therapeutic landscape for XLH patients in Belgium.
DOI: 10.3389/fendo.2021.641543
PubMed: 33815294
PubMed Central: PMC8018577
Affiliations:
- Belgique
- Province d'Anvers, Région de Bruxelles-Capitale, Région flamande
- Anvers, Bruxelles
- Université d'Anvers
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Laurent</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Metabolic Bone Diseases, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Centre for Metabolic Bone Diseases, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="De Schepper, Jean" sort="De Schepper, Jean" uniqKey="De Schepper J" first="Jean" last="De Schepper">Jean De Schepper</name><affiliation wicri:level="3"><nlm:affiliation>Division of Pediatric Endocrinology, KidZ Health Castle, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Division of Pediatric Endocrinology, KidZ Health Castle, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region 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Université Libre de Bruxelles, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Paediatric Endocrinology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Bravenboer, Bert" sort="Bravenboer, Bert" uniqKey="Bravenboer B" first="Bert" last="Bravenboer">Bert Bravenboer</name><affiliation wicri:level="3"><nlm:affiliation>Department of Endocrinology, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Endocrinology, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Velkeniers, Brigitte" sort="Velkeniers, Brigitte" uniqKey="Velkeniers B" first="Brigitte" last="Velkeniers">Brigitte Velkeniers</name><affiliation wicri:level="3"><nlm:affiliation>Department of Endocrinology, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Endocrinology, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Lammens, Johan" sort="Lammens, Johan" uniqKey="Lammens J" first="Johan" last="Lammens">Johan Lammens</name><affiliation wicri:level="1"><nlm:affiliation>Department of Orthopaedic Surgery and Department of Development and Regeneration, Prometheus LRD Division of Skeletal Tissue Engineering, KU Leuven - University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Orthopaedic Surgery and Department of Development and Regeneration, Prometheus LRD Division of Skeletal Tissue Engineering, KU Leuven - University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Harvengt, Pol" sort="Harvengt, Pol" uniqKey="Harvengt P" first="Pol" last="Harvengt">Pol Harvengt</name><affiliation wicri:level="1"><nlm:affiliation>XLH Belgium, Belgian X-Linked Hypophosphatemic Rickets (XLH) Patient Association, Waterloo, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>XLH Belgium, Belgian X-Linked Hypophosphatemic Rickets (XLH) Patient Association, Waterloo</wicri:regionArea><wicri:noRegion>Waterloo</wicri:noRegion></affiliation></author><author><name sortKey="Cavalier, Etienne" sort="Cavalier, Etienne" uniqKey="Cavalier E" first="Etienne" last="Cavalier">Etienne Cavalier</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Chemistry, University Hospital Center of Liège, University of Liège, Liège, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Clinical Chemistry, University Hospital Center of Liège, University of Liège, Liège</wicri:regionArea><wicri:noRegion>Liège</wicri:noRegion></affiliation></author><author><name sortKey="Kaux, Jean Francois" sort="Kaux, Jean Francois" uniqKey="Kaux J" first="Jean-François" last="Kaux">Jean-François Kaux</name><affiliation wicri:level="1"><nlm:affiliation>Physical Medicine, Rehabilitation and Sports Traumatology, University and University Hospital of Liège, Liège, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Physical Medicine, Rehabilitation and Sports Traumatology, University and University Hospital of Liège, Liège</wicri:regionArea><wicri:noRegion>Liège</wicri:noRegion></affiliation></author><author><name sortKey="Lombet, Jacques" sort="Lombet, Jacques" uniqKey="Lombet J" first="Jacques" last="Lombet">Jacques Lombet</name><affiliation wicri:level="1"><nlm:affiliation>Division of Nephrology, Department of Pediatrics, University Hospital Center of Liège, Liège, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Division of Nephrology, Department of Pediatrics, University Hospital Center of Liège, Liège</wicri:regionArea><wicri:noRegion>Liège</wicri:noRegion></affiliation></author><author><name sortKey="De Waele, Kathleen" sort="De Waele, Kathleen" uniqKey="De Waele K" first="Kathleen" last="De Waele">Kathleen De Waele</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Endocrinology, University Hospital Ghent, Ghent, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Pediatric Endocrinology, University Hospital Ghent, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Verroken, Charlotte" sort="Verroken, Charlotte" uniqKey="Verroken C" first="Charlotte" last="Verroken">Charlotte Verroken</name><affiliation wicri:level="1"><nlm:affiliation>Unit for Osteoporosis and Metabolic Bone Diseases, Department of Endocrinology and Metabolism, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Unit for Osteoporosis and Metabolic Bone Diseases, Department of Endocrinology and Metabolism, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Van Hoeck, Koenraad" sort="Van Hoeck, Koenraad" uniqKey="Van Hoeck K" first="Koenraad" last="Van Hoeck">Koenraad Van Hoeck</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Nephrology, Antwerp University Hospital, Antwerp, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Pediatric Nephrology, Antwerp University Hospital, Antwerp</wicri:regionArea><wicri:noRegion>Antwerp</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:affiliation>Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Antwerp, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Antwerp</wicri:regionArea><orgName type="university">Université d'Anvers</orgName><placeName><settlement type="city">Anvers</settlement><region>Région flamande</region><region type="district" nuts="2">Province d'Anvers</region></placeName></affiliation></author><author><name sortKey="Mortier, Geert R" sort="Mortier, Geert R" uniqKey="Mortier G" first="Geert R" last="Mortier">Geert R. Mortier</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp</wicri:regionArea><wicri:noRegion>Antwerp</wicri:noRegion></affiliation></author><author><name sortKey="Levtchenko, Elena" sort="Levtchenko, Elena" uniqKey="Levtchenko E" first="Elena" last="Levtchenko">Elena Levtchenko</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics/Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Pediatrics/Pediatric Nephrology, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Vande Walle, Johan" sort="Vande Walle, Johan" uniqKey="Vande Walle J" first="Johan" last="Vande Walle">Johan Vande Walle</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Nephrology, University Hospital Ghent, Ghent, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Pediatric Nephrology, University Hospital Ghent, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2021">2021</date><idno type="RBID">pubmed:33815294</idno><idno type="pmid">33815294</idno><idno type="doi">10.3389/fendo.2021.641543</idno><idno type="pmc">PMC8018577</idno><idno type="wicri:Area/Main/Corpus">000008</idno><idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Corpus" wicri:corpus="PubMed">000008</idno><idno type="wicri:Area/Main/Curation">000008</idno><idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Curation">000008</idno><idno type="wicri:Area/Main/Exploration">000008</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.</title><author><name sortKey="Laurent, Michael R" sort="Laurent, Michael R" uniqKey="Laurent M" first="Michaël R" last="Laurent">Michaël R. Laurent</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Metabolic Bone Diseases, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Centre for Metabolic Bone Diseases, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="De Schepper, Jean" sort="De Schepper, Jean" uniqKey="De Schepper J" first="Jean" last="De Schepper">Jean De Schepper</name><affiliation wicri:level="3"><nlm:affiliation>Division of Pediatric Endocrinology, KidZ Health Castle, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Division of Pediatric Endocrinology, KidZ Health Castle, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Endocrinology, University Hospital Ghent, Ghent, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Pediatric Endocrinology, University Hospital Ghent, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Trouet, Dominique" sort="Trouet, Dominique" uniqKey="Trouet D" first="Dominique" last="Trouet">Dominique Trouet</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Nephrology, Antwerp University Hospital, Antwerp, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Pediatric Nephrology, Antwerp University Hospital, Antwerp</wicri:regionArea><wicri:noRegion>Antwerp</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:affiliation>Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Antwerp, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Antwerp</wicri:regionArea><orgName type="university">Université d'Anvers</orgName><placeName><settlement type="city">Anvers</settlement><region>Région flamande</region><region type="district" nuts="2">Province d'Anvers</region></placeName></affiliation></author><author><name sortKey="Godefroid, Nathalie" sort="Godefroid, Nathalie" uniqKey="Godefroid N" first="Nathalie" last="Godefroid">Nathalie Godefroid</name><affiliation wicri:level="3"><nlm:affiliation>Pediatric Nephrology, Cliniques Universitaires St. Luc (UCL), Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Pediatric Nephrology, Cliniques Universitaires St. Luc (UCL), Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Boros, Emese" sort="Boros, Emese" uniqKey="Boros E" first="Emese" last="Boros">Emese Boros</name><affiliation wicri:level="3"><nlm:affiliation>Paediatric Endocrinology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Paediatric Endocrinology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Heinrichs, Claudine" sort="Heinrichs, Claudine" uniqKey="Heinrichs C" first="Claudine" last="Heinrichs">Claudine Heinrichs</name><affiliation wicri:level="3"><nlm:affiliation>Paediatric Endocrinology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Paediatric Endocrinology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Bravenboer, Bert" sort="Bravenboer, Bert" uniqKey="Bravenboer B" first="Bert" last="Bravenboer">Bert Bravenboer</name><affiliation wicri:level="3"><nlm:affiliation>Department of Endocrinology, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Endocrinology, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Velkeniers, Brigitte" sort="Velkeniers, Brigitte" uniqKey="Velkeniers B" first="Brigitte" last="Velkeniers">Brigitte Velkeniers</name><affiliation wicri:level="3"><nlm:affiliation>Department of Endocrinology, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Endocrinology, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Lammens, Johan" sort="Lammens, Johan" uniqKey="Lammens J" first="Johan" last="Lammens">Johan Lammens</name><affiliation wicri:level="1"><nlm:affiliation>Department of Orthopaedic Surgery and Department of Development and Regeneration, Prometheus LRD Division of Skeletal Tissue Engineering, KU Leuven - University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Orthopaedic Surgery and Department of Development and Regeneration, Prometheus LRD Division of Skeletal Tissue Engineering, KU Leuven - University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Harvengt, Pol" sort="Harvengt, Pol" uniqKey="Harvengt P" first="Pol" last="Harvengt">Pol Harvengt</name><affiliation wicri:level="1"><nlm:affiliation>XLH Belgium, Belgian X-Linked Hypophosphatemic Rickets (XLH) Patient Association, Waterloo, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>XLH Belgium, Belgian X-Linked Hypophosphatemic Rickets (XLH) Patient Association, Waterloo</wicri:regionArea><wicri:noRegion>Waterloo</wicri:noRegion></affiliation></author><author><name sortKey="Cavalier, Etienne" sort="Cavalier, Etienne" uniqKey="Cavalier E" first="Etienne" last="Cavalier">Etienne Cavalier</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Chemistry, University Hospital Center of Liège, University of Liège, Liège, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Clinical Chemistry, University Hospital Center of Liège, University of Liège, Liège</wicri:regionArea><wicri:noRegion>Liège</wicri:noRegion></affiliation></author><author><name sortKey="Kaux, Jean Francois" sort="Kaux, Jean Francois" uniqKey="Kaux J" first="Jean-François" last="Kaux">Jean-François Kaux</name><affiliation wicri:level="1"><nlm:affiliation>Physical Medicine, Rehabilitation and Sports Traumatology, University and University Hospital of Liège, Liège, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Physical Medicine, Rehabilitation and Sports Traumatology, University and University Hospital of Liège, Liège</wicri:regionArea><wicri:noRegion>Liège</wicri:noRegion></affiliation></author><author><name sortKey="Lombet, Jacques" sort="Lombet, Jacques" uniqKey="Lombet J" first="Jacques" last="Lombet">Jacques Lombet</name><affiliation wicri:level="1"><nlm:affiliation>Division of Nephrology, Department of Pediatrics, University Hospital Center of Liège, Liège, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Division of Nephrology, Department of Pediatrics, University Hospital Center of Liège, Liège</wicri:regionArea><wicri:noRegion>Liège</wicri:noRegion></affiliation></author><author><name sortKey="De Waele, Kathleen" sort="De Waele, Kathleen" uniqKey="De Waele K" first="Kathleen" last="De Waele">Kathleen De Waele</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Endocrinology, University Hospital Ghent, Ghent, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Pediatric Endocrinology, University Hospital Ghent, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Verroken, Charlotte" sort="Verroken, Charlotte" uniqKey="Verroken C" first="Charlotte" last="Verroken">Charlotte Verroken</name><affiliation wicri:level="1"><nlm:affiliation>Unit for Osteoporosis and Metabolic Bone Diseases, Department of Endocrinology and Metabolism, Ghent University Hospital, Ghent, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Unit for Osteoporosis and Metabolic Bone Diseases, Department of Endocrinology and Metabolism, Ghent University Hospital, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Van Hoeck, Koenraad" sort="Van Hoeck, Koenraad" uniqKey="Van Hoeck K" first="Koenraad" last="Van Hoeck">Koenraad Van Hoeck</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Nephrology, Antwerp University Hospital, Antwerp, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Pediatric Nephrology, Antwerp University Hospital, Antwerp</wicri:regionArea><wicri:noRegion>Antwerp</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:affiliation>Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Antwerp, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Antwerp</wicri:regionArea><orgName type="university">Université d'Anvers</orgName><placeName><settlement type="city">Anvers</settlement><region>Région flamande</region><region type="district" nuts="2">Province d'Anvers</region></placeName></affiliation></author><author><name sortKey="Mortier, Geert R" sort="Mortier, Geert R" uniqKey="Mortier G" first="Geert R" last="Mortier">Geert R. Mortier</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp</wicri:regionArea><wicri:noRegion>Antwerp</wicri:noRegion></affiliation></author><author><name sortKey="Levtchenko, Elena" sort="Levtchenko, Elena" uniqKey="Levtchenko E" first="Elena" last="Levtchenko">Elena Levtchenko</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics/Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Pediatrics/Pediatric Nephrology, University Hospitals Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Vande Walle, Johan" sort="Vande Walle, Johan" uniqKey="Vande Walle J" first="Johan" last="Vande Walle">Johan Vande Walle</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatric Nephrology, University Hospital Ghent, Ghent, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Pediatric Nephrology, University Hospital Ghent, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author></analytic><series><title level="j">Frontiers in endocrinology</title><idno type="ISSN">1664-2392</idno><imprint><date when="2021" type="published">2021</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the <i>PHEX</i> gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting and impaired skeletal and dental mineralization. Recently, international guidelines for the diagnosis and treatment of this condition have been published. However, more specific recommendations are needed to provide guidance at the national level, considering resource availability and health economic aspects. A national multidisciplinary group of Belgian experts convened to discuss translation of international best available evidence into locally feasible consensus recommendations. Patients with XLH may present to a wide array of primary, secondary and tertiary care physicians, among whom awareness of the disease should be raised. XLH has a very broad differential-diagnosis for which clinical features, biochemical and genetic testing in centers of expertise are recommended. Optimal care requires a multidisciplinary approach, guided by an expert in metabolic bone diseases and involving (according to the individual patient's needs) pediatric and adult medical specialties and paramedical caregivers, including but not limited to general practitioners, dentists, radiologists and orthopedic surgeons. In children with severe or refractory symptoms, FGF23 inhibition using burosumab may provide superior outcomes compared to conventional medical therapy with phosphate supplements and active vitamin D analogues. Burosumab has also demonstrated promising results in adults on certain clinical outcomes such as pseudofractures. In summary, this work outlines recommendations for clinicians and policymakers, with a vision for improving the diagnostic and therapeutic landscape for XLH patients in Belgium.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">33815294</PMID><DateRevised><Year>2021</Year><Month>08</Month><Day>18</Day></DateRevised><Article PubModel="Electronic-eCollection"><Journal><ISSN IssnType="Print">1664-2392</ISSN><JournalIssue CitedMedium="Print"><Volume>12</Volume><PubDate><Year>2021</Year></PubDate></JournalIssue><Title>Frontiers in endocrinology</Title><ISOAbbreviation>Front Endocrinol (Lausanne)</ISOAbbreviation></Journal><ArticleTitle>Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.</ArticleTitle><Pagination><MedlinePgn>641543</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.3389/fendo.2021.641543</ELocationID><Abstract><AbstractText>X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the <i>PHEX</i> gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting and impaired skeletal and dental mineralization. Recently, international guidelines for the diagnosis and treatment of this condition have been published. However, more specific recommendations are needed to provide guidance at the national level, considering resource availability and health economic aspects. A national multidisciplinary group of Belgian experts convened to discuss translation of international best available evidence into locally feasible consensus recommendations. Patients with XLH may present to a wide array of primary, secondary and tertiary care physicians, among whom awareness of the disease should be raised. XLH has a very broad differential-diagnosis for which clinical features, biochemical and genetic testing in centers of expertise are recommended. Optimal care requires a multidisciplinary approach, guided by an expert in metabolic bone diseases and involving (according to the individual patient's needs) pediatric and adult medical specialties and paramedical caregivers, including but not limited to general practitioners, dentists, radiologists and orthopedic surgeons. In children with severe or refractory symptoms, FGF23 inhibition using burosumab may provide superior outcomes compared to conventional medical therapy with phosphate supplements and active vitamin D analogues. Burosumab has also demonstrated promising results in adults on certain clinical outcomes such as pseudofractures. In summary, this work outlines recommendations for clinicians and policymakers, with a vision for improving the diagnostic and therapeutic landscape for XLH patients in Belgium.</AbstractText><CopyrightInformation>Copyright © 2021 Laurent, De Schepper, Trouet, Godefroid, Boros, Heinrichs, Bravenboer, Velkeniers, Lammens, Harvengt, Cavalier, Kaux, Lombet, De Waele, Verroken, van Hoeck, Mortier, Levtchenko and Vande Walle.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Laurent</LastName><ForeName>Michaël R</ForeName><Initials>MR</Initials><AffiliationInfo><Affiliation>Centre for Metabolic Bone Diseases, University Hospitals Leuven, Leuven, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>De Schepper</LastName><ForeName>Jean</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Division of Pediatric Endocrinology, KidZ Health Castle, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Pediatric Endocrinology, University Hospital Ghent, Ghent, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Trouet</LastName><ForeName>Dominique</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Pediatric Nephrology, Antwerp University Hospital, Antwerp, Belgium.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Antwerp, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Godefroid</LastName><ForeName>Nathalie</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Pediatric Nephrology, Cliniques Universitaires St. Luc (UCL), Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boros</LastName><ForeName>Emese</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Paediatric Endocrinology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Heinrichs</LastName><ForeName>Claudine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Paediatric Endocrinology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bravenboer</LastName><ForeName>Bert</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Department of Endocrinology, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Velkeniers</LastName><ForeName>Brigitte</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Department of Endocrinology, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lammens</LastName><ForeName>Johan</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Orthopaedic Surgery and Department of Development and Regeneration, Prometheus LRD Division of Skeletal Tissue Engineering, KU Leuven - University Hospitals Leuven, Leuven, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Harvengt</LastName><ForeName>Pol</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>XLH Belgium, Belgian X-Linked Hypophosphatemic Rickets (XLH) Patient Association, Waterloo, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cavalier</LastName><ForeName>Etienne</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Clinical Chemistry, University Hospital Center of Liège, University of Liège, Liège, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kaux</LastName><ForeName>Jean-François</ForeName><Initials>JF</Initials><AffiliationInfo><Affiliation>Physical Medicine, Rehabilitation and Sports Traumatology, University and University Hospital of Liège, Liège, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lombet</LastName><ForeName>Jacques</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Division of Nephrology, Department of Pediatrics, University Hospital Center of Liège, Liège, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>De Waele</LastName><ForeName>Kathleen</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Pediatric Endocrinology, University Hospital Ghent, Ghent, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Verroken</LastName><ForeName>Charlotte</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Unit for Osteoporosis and Metabolic Bone Diseases, Department of Endocrinology and Metabolism, Ghent University Hospital, Ghent, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>van Hoeck</LastName><ForeName>Koenraad</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Pediatric Nephrology, Antwerp University Hospital, Antwerp, Belgium.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Antwerp, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mortier</LastName><ForeName>Geert R</ForeName><Initials>GR</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Levtchenko</LastName><ForeName>Elena</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Pediatrics/Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vande Walle</LastName><ForeName>Johan</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Pediatric Nephrology, University Hospital Ghent, Ghent, Belgium.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2021</Year><Month>03</Month><Day>19</Day></ArticleDate></Article><MedlineJournalInfo><Country>Switzerland</Country><MedlineTA>Front Endocrinol (Lausanne)</MedlineTA><NlmUniqueID>101555782</NlmUniqueID><ISSNLinking>1664-2392</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="ErratumIn"><RefSource>Front Endocrinol (Lausanne). 2021 May 25;12:686401</RefSource><PMID Version="1">34113319</PMID></CommentsCorrections></CommentsCorrectionsList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="Y">X-linked hypophosphatemia</Keyword><Keyword MajorTopicYN="Y">burosumab</Keyword><Keyword MajorTopicYN="Y">fibroblast growth factor 23 (FGF23)</Keyword><Keyword MajorTopicYN="Y">osteomalacia</Keyword><Keyword MajorTopicYN="Y">rickets</Keyword><Keyword MajorTopicYN="Y">vitamin D</Keyword></KeywordList><CoiStatement>ML has received lecture and consultancy fees from Alexion, Amgen, Kyowa Kirin, Menarini, Sandoz, Takeda, UCB and Will-Pharma. JS has received lecture, consultancy fees, and conference support from Kyowa Kirin, Alexion, Eli-Lily, Ferring, Ipsen, Menarini, Novo Nordisk, Pfizer, Sandoz, and Siemens Healthcare. DT has received conference support from Novo Nordisk. NG, JLa, and KH have received consultancy fees from Kyowa Kirin. EB has received conference support from Novo Nordisk and Pfizer. CH has received consultancy fees and conference support from Kyowa Kirin, Novo Nordisk, and Ferring. EC has received consultancy fees from bioMérieux, Diasorin, Fujirebio, IDS, and Menarini. PH is an employee of GlaxoSmithKline but participates in his own capacity. J-FK has received consultancy fees and conference support from Heel Belgium, Sanofi, and TRB Chemedica. KW has received conference support from Alexion, Ferring, Kyowa Kirin and Novo Nordisk. CV has received conference support from Boehringer Ingelheim. GM has received consultancy fees from Alexion, Biomarin, Kyowa Kirin, and Pfizer. EL has received consultancy fees and travel support from Kyowa Kirin, Chiesi, and Recordati. JV has received conference support and consultancy fees from Alexion, Bellco, Ferring, Medtronic, and Kyowa Kirin. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.</CoiStatement></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2020</Year><Month>12</Month><Day>14</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2021</Year><Month>02</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2021</Year><Month>4</Month><Day>5</Day><Hour>5</Hour><Minute>57</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2021</Year><Month>4</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2021</Year><Month>4</Month><Day>6</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>epublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">33815294</ArticleId><ArticleId 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