Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature
Rachita Singh Dhull, Reena Jain, Bobbity Deepthi, Hae II Cheong, Abhijeet Saha, Mohit Mehndiratta, Srikanta Basu
Abstract
Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent rickets (VDDR) type 1 due to a rare mutation in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. Both siblings improved with calcitriol supplementation. The initial presentation of VDDR is often confusing and algorithmic evaluation helps in diagnosis. We also present a brief review of the literature, including genetics.
Topics & Concepts
RicketsCalcitriolVitamin D and neurologyPresentation (obstetrics)MedicinePediatricsHypophosphatemic RicketsMutationEndocrinologyInternal medicineGeneBiologyGeneticsSurgeryVitamin D Research StudiesBone health and osteoporosis researchParathyroid Disorders and Treatments