Joint Bone Spine 2021 Jun 5:105208. Epub 2021 Jun 5.
APHP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, Paris, France; APHP, Endocrinology and Diabetes for Children, Bicêtre Paris-Sud Hospital, Le Kremlin-Bicêtre, France. Electronic address:
Hereditary hypophosphatemia with increased FGF23 levels are rare inherited metabolic diseases characterized by low serum phosphate because of impaired renal tubular phosphate reabsorption. The most common form is X-linked hypophosphatemia (XLH), secondary to a mutation in the PHEX gene. In children, XLH is often manifested by rickets, delayed development of gait, lower limb deformities, growth retardation, craniosynostosis, and spontaneous dental abscesses. Read More