hrp0089p3-p051 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018
, Kolodkina Anna
, Vasiliev Eugeny
, Petrov Vasily
, Tiulpakov Anatoly
Vitamin D dependent rickets type 1A (VDDR-IA) is inherited in an autosomal recessive pattern and caused by mutations in CYP27B1 gene encoding enzyme 1α-hydroxylase. Deficiency of 1α-hydroxylase leads to decrease of 1,25(OH)2 vitamin D production. VDDR-IA usually manifests clinically during the 1st year of life. Clinical features of VDDR- IA include progressive growth retardation, hypotonia, rachitic skeletal deformities, hypocalcemic seizures in early infancy. Serum ...