Open AccessVitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature
Author(s) -
Rachita Singh Dhull,
Reena Jain,
Bobbity Deepthi,
Hae Ii Cheong,
Abhijeet Saha,
Mohit Mehndiratta,
Srikanta Basu
Publication year - 2020
Publication title -
brazilian journal of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.356
H-Index - 22
eISSN - 2175-8239
pISSN - 0101-2800
DOI - 10.1590/2175-8239-jbn-2020-0001
Subject(s) - rickets , calcitriol , vitamin d and neurology , presentation (obstetrics) , medicine , pediatrics , hypophosphatemic rickets , mutation , endocrinology , gene , biology , genetics , surgery
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.