Abstract

Genetic and clinical characteristics of the patients with Vitamin D Dependent Rickets Type 1A

Highlights

  • IntroductionThe first is ergocalciferol (vitamin D2), derived from ergosterol after ultraviolet (UV) light exposure and the second is cholecalciferol (vitamin D3), derived from animal tissues and 7-dehydrocholesterol, formed in human skin by the action of UV rays in sunlight [1]

  • Vitamin D comprises two biologically inactive, fatsoluble pro-hormones

  • The first step occurs in the liver, where vitamin D is hydroxylated to 25-hydroxyvitamin D (25-OHD) by hepatic 25-hydroxylase

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Summary

Introduction

The first is ergocalciferol (vitamin D2), derived from ergosterol after ultraviolet (UV) light exposure and the second is cholecalciferol (vitamin D3), derived from animal tissues and 7-dehydrocholesterol, formed in human skin by the action of UV rays in sunlight [1]. Both forms need a two-step hydroxylation at the 25th and 1st carbons for activation. The first step occurs in the liver, where vitamin D is hydroxylated to 25-hydroxyvitamin D (25-OHD) by hepatic 25-hydroxylase. The renal synthesis of 1,25-OH2D from its precursor 25-OHD is a rate-limiting step and is tightly regulated by exisiting serum concentrations of 1,25-OH2D, parathyroid hormone (PTH), fibroblast growth factor-23 (FGF-23), calcium and phosphate concentrations, with renal 1α-hydroxylase being stimulated by PTH, hypophosphatemia, or hypocalcaemia and inhibited by FGF-23 [4]

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