Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p68 | (1) | ICCBH2019

Clinical case of a child with a hereditary vitamin D dependent rickets type 1a, complicated by rachitic lung and oxygen dependence

Polyakova Nina , Kakaulina Victoria , Zarubina Vera , Nagornova Tatiana , Petraykina Elena , Pechatnikova Natalia

Background: Hereditary pseudovitamin D-deficiency rickets, also known as vitamin D-dependent rickets type I, with an autosomal recessive inheritance, is caused by mutations in CYP27B1. It is characterized clinically by hypotonia, weakness, growth failure, and hypocalcemic seizures in early infancy. The patients also have hypocalcemia, radiologic findings typical of rickets, elevated serum parathyroid hormone concentrations, and generalized aminoaciduria. We present follow-up o...