hrp0092p2-60 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Clinical and Genetic Characterization of Tunisian Children with Hereditary Hypophosphatemic rickets (HHR).

Wannes Selmen , Silve Caroline , Rassas Ahmed , Werdani Amina , BOUSOFFARA Raoudha , Mahjoub Bahri

Background: Hypophosphatemic rickets (HHR) is a vitamin D-resistant rickets and results in children in variable degrees of delayed walking, waddling gait, leg bowing, enlarged cartilages, bone pain, craniostenosis and growth failure. There are both inherited and acquired forms, where FGF23-dependent forms with X-linked dominant hypophosphatemic rickets (XLH) head of the list is the most prevalent genetic form; molecular defects of the sodium-phosphate co-trans...