Meeting abstract
https://doi.org/10.26800/LV-144-supl6-PS34
Familial Hypophosphatemic Rickets: Genetic Basis, case study and novel therapy
Lea Jukić
Dina Gržan
Danijela Petković Ramadža
Ivo Barić
Tamara Žigman
Mislav Čavka
Abstract
Familial hypophosphatemic rickets (X-linked hypophosphatemic rickets) is a metabolic bone disease characterized by an increase in systemic circulating fibroblast growth factor-23 due to an inactivating mutation in the PHEX gene and consequential phosphate wasting leading to rickets.
Keywords
Alkaline Phosphatase; Calcitriol; Familial Hypophosphatemic Rickets; Fibroblast Growth Factor-23; Phosphates
Hrčak ID:
291112
URI
Publication date:
8.12.2022.
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