ESPE Abstracts

Background & Aim: Vitamin D-dependent rickets type 1 A (VDDR1A) is an autosomal recessive condition caused by mutation in CYP27B1, which encodes 1 α-hydroxylase enzyme that catalyzes the conversion of 25-hydroxyvitamin D (25OHD) to 1,25-dihydroxyvitamin D (1,25 (OH)2D). We are reporting 4 cases of VDDR1A due to CYP27B1 mutation initially misdiagnosed as vitamin D deficient and hypophosphatemic rickets.<p class="abstext...

Background: Vitamin D dependent rickets Type 2A (VDDR2A) is a rare autosomal recessive disorder due to mutation in vitamin D receptor (VDR) leading to hypocalcemia, secondary hyperparathyroidism and signs of rickets. It usually presents with bony deformities along with complete or partial alopecia and is challenging to manage.Objective: We are reporting case series of two siblings with VDDR2A who were managed in a non-co...