Vitamin-D-dependent rickets type 2

Abstract

Vitamin-D-dependent rickets type 2 results from autosomal recessive mutations of the vitamin D receptor gene. With congenital total body alopecia and onset of rickets during the second half of the first year of life, patients display rapidly progressing rachitic bone changes, hypocalcemia and secondary hyperparathyroidism. This article describes extensive personal experience with about one third of the world's reported cases, their clinical course, the physiological consequences, diagnostic steps, molecular findings and therapeutic approach, as they developed over the course of the last 25 years.