Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.

ABSTRACT:

Context

Idiopathic infantile hypercalcemia (IIH), an uncommon disorder characterized by elevated serum concentrations of 1,25 dihydroxyvitamin D (1,25(OH)2D) and low parathyroid hormone (PTH) levels, may present with mild to severe hypercalcemia during the first months of life. Biallelic variants in the CYP24A1 or SLC34A1 genes are associated with severe IIH. Little is known about milder forms.

Objective

This work aims to characterize the genetic associations and biochemical profile of mild IIH.

Methods

This is a cross-sectional study including children between age 6 months and 17 years with IIH who were followed in the Calcium Clinic at the Hospital for Sick Children (SickKids), Toronto, Canada. Twenty children with mild IIH on calcium-restricted diets were evaluated

SUBMITTER: Lenherr-Taube N 

PROVIDER: S-EPMC8475208 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature