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Nat Rev Nephrol. 2019 May 8. doi: 10.1038/s41581-019-0152-5. [Epub ahead of print]

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

Author information

1
Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany. Haffner.Dieter@mh-hannover.de.
2
Center for Congenital Kidney Diseases, Center for Rare Diseases, Hannover Medical School, Hannover, Germany. Haffner.Dieter@mh-hannover.de.
3
Department of Pediatric Subspecialties, Division of Nephrology, Children's Hospital Bambino Gesù - IRCCS, Rome, Italy.
4
Department of Orthopaedics, Great Ormond St Hospital for Children, Orthopaedics, London, UK.
5
The Catterall Unit Royal National Orthopaedic Hospital NHS Trust, Stanmore, UK.
6
Dental School, Université Paris Descartes Sorbonne Paris Cité, Montrouge, France.
7
APHP, Department of Odontology, Bretonneau Hospital, Paris, France.
8
APHP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, Paris, France.
9
Department of Pediatric Nephrology, Rheumatology and Dermatology, University Children's Hospital, Lyon, France.
10
Center for Chronic Sick Children, Pediatric Endocrinology, Charitè, University Medicine, Berlin, Germany.
11
APHP, Department of Pediatric Orthopedic Surgery, Necker - Enfants Malades University Hospital, Paris, France.
12
Paris Descartes University, Paris, France.
13
University College London, Centre for Nephrology and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
14
Hospital Universitario Central de Asturias (HUCA), University of Oviedo, Oviedo, Spain.
15
Department of Pediatric Nephrology and Development and Regeneration, University Hospitals Leuven, University of Leuven, Leuven, Belgium.
16
RVRH-XLH, French Patient Association for XLH, Suresnes, France.
17
Phosphatdiabetes e.V., German Patient Association for XLH, Lippstadt, Germany.
18
Pediatric Neurosurgery, Hôpital Femme Mère Enfant, Centre de Référence Craniosténoses, Université de Lyon, Lyon, France.
19
Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.
20
Pediatric Endocrinology Unit, Karolinska University Hospital, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
21
APHP, Department of Rheumatology, Cochin Hospital, Paris, France.
22
INSERM UMR-1153, Paris, France.
23
APHP, Department of Endocrinology and Reproductive Diseases, Bicêtre Paris-Sud Hospital, Paris, France.
24
INSERM U1185, Bicêtre Paris-Sud, Paris-Sud - Paris Saclay University, Le Kremlin-Bicêtre, France.
25
Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.
26
APHP, Platform of Expertise of Paris-Sud for Rare Diseases and Filière OSCAR, Bicêtre Paris-Sud Hospital (HUPS), Le Kremlin-Bicêtre, France.
27
APHP, Endocrinology and Diabetes for Children, Bicêtre Paris-Sud Hospital, Le Kremlin-Bicêtre, France.

Abstract

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.

PMID:
31068690
DOI:
10.1038/s41581-019-0152-5

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