Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
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
Familial Hypophosphatemic Rickets
/ diagnosis
Fibroblast Growth Factor-23
Growth Hormone
/ therapeutic use
Hearing Loss
/ etiology
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
Journal
Nature reviews. Nephrology
ISSN: 1759-507X
Titre abrégé: Nat Rev Nephrol
Pays: England
ID NLM: 101500081
Informations de publication
Date de publication:
07 2019
07 2019
Historique:
pubmed:
10
5
2019
medline:
11
2
2020
entrez:
10
5
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31068690
doi: 10.1038/s41581-019-0152-5
pii: 10.1038/s41581-019-0152-5
pmc: PMC7136170
doi:
Substances chimiques
Antibodies, Monoclonal
0
Antibodies, Monoclonal, Humanized
0
Biomarkers
0
Bone Density Conservation Agents
0
FGF23 protein, human
0
Immunologic Factors
0
Phosphates
0
Vitamin D
1406-16-2
Fibroblast Growth Factor-23
7Q7P4S7RRE
Growth Hormone
9002-72-6
PHEX Phosphate Regulating Neutral Endopeptidase
EC 3.4.24.-
PHEX protein, human
EC 3.4.24.-
burosumab
G9WJT6RD29
Types de publication
Consensus Development Conference
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
435-455Références
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