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

Dieter Haffner, Francesco Emma, Deborah M Eastwood, Martin Biosse Duplan, Justine Bacchetta, Dirk Schnabel, Philippe Wicart, Detlef Bockenhauer, Fernando Santos, Elena Levtchenko, Pol Harvengt, Martha Kirchhoff, Federico Di Rocco, Catherine Chaussain, Maria Louisa Brandi, Lars Savendahl, Karine Briot, Peter Kamenicky, Lars Rejnmark, Agnès Linglart

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
JournalNature Reviews Nephrology
Publication statusE-pub ahead of print - May 8 2019


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