1. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
- Author
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Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, and Linglart A
- Subjects
- Algorithms, Antibodies, Monoclonal therapeutic use, Antibodies, Monoclonal, Humanized, Arnold-Chiari Malformation etiology, Biomarkers blood, Bone Density Conservation Agents therapeutic use, Bone and Bones diagnostic imaging, Continuity of Patient Care, Craniosynostoses prevention & control, Delphi Technique, Dental Care, Fibroblast Growth Factor-23, Growth Hormone therapeutic use, Hearing Loss etiology, Hearing Loss prevention & control, Humans, Immunologic Factors therapeutic use, Life Style, Mutation, Orthopedic Procedures, PHEX Phosphate Regulating Neutral Endopeptidase genetics, Phosphates therapeutic use, Physical Therapy Modalities, Radiography, Vitamin D therapeutic use, Familial Hypophosphatemic Rickets diagnosis, Familial Hypophosphatemic Rickets therapy
- 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.
- Published
- 2019
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