ESPEYB16 5. Bone, Growth Plate and Mineral Metabolism Clinical Guidance (3 abstracts)
5.12. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia
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 & Linglart A
Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany
Nat Rev Nephrol. 2019 May 8. doi: 10.1038/s41581-019-0152-5. [PMID: 31068690].
Abstract: www.ncbi.nlm.nih.gov/pubmed/?termZ31068690
In brief: In this Evidence-Based Guideline on X-linked hypophosphataemia, the authors identify the criteria for diagnosis of this disease, provide guidance for medical and surgical treatment and explain the challenges of follow-up.
Comment: 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, authors 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. The authors suggest that, 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. Here, the authors 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.
Volume 16
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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