Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

DOI

  • Dieter Haffner, Hannover Medical School
  • ,
  • Francesco Emma, IRCCS Ospedale Pediatrico Bambino Gesù
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  • Deborah M. Eastwood, UCL, Royal National Orthopaedic Hospital NHS Trust
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  • Martin Biosse Duplan, Université Descartes, Sorbonne Paris Cité, Bretonneau Hospital, AP-HP Assistance Publique - Hopitaux de Paris
  • ,
  • Justine Bacchetta, University Children’s Hospital
  • ,
  • Dirk Schnabel, Charite - Universitatsmedizin Berlin
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  • Philippe Wicart, AP-HP Assistance Publique - Hopitaux de Paris, Institut Necker-Enfants Malades, Université Descartes, Sorbonne Paris Cité
  • ,
  • Detlef Bockenhauer, UCL
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  • Fernando Santos, Hospital Universitario Central de Asturias
  • ,
  • Elena Levtchenko, Dentistry, University Hospitals, KU Leuven
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  • Pol Harvengt, RVRH-XLH
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  • Martha Kirchhoff, German Patient Association for XLH
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  • Federico Di Rocco, Université Lyon
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  • Catherine Chaussain, Université Descartes, Sorbonne Paris Cité, Bretonneau Hospital, AP-HP Assistance Publique - Hopitaux de Paris
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  • Maria Louisa Brandi, Università Degli Studi di Firenze
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  • Lars Savendahl, Karolinska University Hospital
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  • Karine Briot, AP-HP Assistance Publique - Hopitaux de Paris, Université Descartes, Sorbonne Paris Cité, University Hospital Cochin, Developmental Origins of Health and disease (ORCHAD) Team
  • ,
  • Peter Kamenicky, AP-HP Assistance Publique - Hopitaux de Paris, Université Paris-Saclay
  • ,
  • Lars Rejnmark
  • Agnès Linglart, AP-HP Assistance Publique - Hopitaux de Paris, Université Paris-Saclay

X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children as well as hyperparathyroidism, osteomalacia, enthesopathies, osteoarthritis and pseudofractures in adults. The characteristics and severity of XLH vary between patients. Because of its rarity, the diagnosis and specific treatment of XLH are frequently delayed, which has a detrimental effect on patient outcomes. In this Evidence-Based Guideline, we recommend that the diagnosis of XLH is based on signs of rickets and/or osteomalacia in association with hypophosphataemia and renal phosphate wasting in the absence of vitamin D or calcium deficiency. Whenever possible, the diagnosis should be confirmed by molecular genetic analysis or measurement of levels of fibroblast growth factor 23 (FGF23) before treatment. Owing to the multisystemic nature of the disease, patients should be seen regularly by multidisciplinary teams organized by a metabolic bone disease expert. In this article, we summarize the current evidence and provide recommendations on features of the disease, including new treatment modalities, to improve knowledge and provide guidance for diagnosis and multidisciplinary care.

OriginalsprogEngelsk
TidsskriftNature Reviews Nephrology
Vol/bind15
Nummer7
Sider (fra-til)435-455
Antal sider21
ISSN1759-5061
DOI
StatusUdgivet - 2019

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