Hypophosphataemic Rickets: Similar Phenotype of Different Diseases

Hypophosphataemic rickets (HR) is a group of rare disorders caused by excessive renal phosphate wasting in which the participation of fibroblast growth factor 23 (FGF23) can be prominent. These diseases pose therapeutic challenges with important consequences for growth and bone development in childh...

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Bibliographic Details
Published in:Advances in therapy 2020-05, Vol.37 (Suppl 2), p.80-88
Main Authors: de la Cerda-Ojeda, Francisco, González-Rodríguez, Juan D., Madariaga, Leire, Martínez-Díaz-Guerra, Guillermo, Matoses-Ruipérez, María L.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Aged, 80 and over
Biomarkers - blood
Cardiology
Child
Child, Preschool
Diagnosis, Differential
Endocrinology
Female
Fibroblast Growth Factors - blood
Fibroblast Growth Factors - genetics
Genetic Variation
Health technology assessment
Humans
Infant
Infant, Newborn
Internal Medicine
Male
Medicine
Medicine & Public Health
Middle Aged
Oncology
Pharmacology/Toxicology
Phenotype
Review
Rheumatology
Rickets, Hypophosphatemic - diagnosis
Rickets, Hypophosphatemic - genetics
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Summary:Hypophosphataemic rickets (HR) is a group of rare disorders caused by excessive renal phosphate wasting in which the participation of fibroblast growth factor 23 (FGF23) can be prominent. These diseases pose therapeutic challenges with important consequences for growth and bone development in childhood, with higher risk of fractures and poorer bone healing, dental problems, and nephrolithiasis or nephrocalcinosis. In some cases, the diagnostic delay can be very long; laboratory findings and an exhaustive anamnesis could help distinguish between various pathologies, and FGF23 values—although currently not routinely measured—have implications for the differential diagnosis. Genetic testing is encouraged, especially in sporadic or insidious cases. In this review we discuss the clinical features of HR, with a particular emphasis on the differential diagnosis and the therapeutic implications.
ISSN:0741-238X
1865-8652
DOI:10.1007/s12325-019-01182-3