why choose us

300×250 Ad Slot

Research Article: Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1

Date Published: 2023-10-17

Abstract:
Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by CYP24A1 genetic variants and IIH type 2 associated with SLC34A1 mutations. The affected individuals express a variety of symptoms: hypercalcemia, hypercalciuria, suppressed intact parathormone levels (PTH), nephrocalcinosis, elevated levels of serum 1,25 (OH)2-vitamin D3 or inappropriately normal levels, and kidney phosphate wasting. The present paper describes three cases of IIH with heterozygous mutations in SLC34A1 and CYP24A1 genes, respectively. The genetic diagnosis is of paramount importance for proper treatment and the prediction of long-term outcomes.

Introduction:
Idiopathic infantile hypercalcemia (IIH) is a rare condition that can cause severe health effects if not promptly identified. The first description of IHH was in the 1950s in the United Kingdom in infants who had a clinical presentation of severe hypercalcemia [1,2]. The pathophysiology of IIH remained unknown until 2011. In this year, Schlingmann discovered the loss-of-function mutation in the vitamin D catabolizing enzyme 25-OH-vitamin D3-24 hydroxylase (CYP24A1) [3]. In the vitamin D activation cascade, the…

Read more

300×250 Ad Slot