Case Report of Idiopathic Infantile Hypercalcemia due to homozygous mutation in SLC34A1 gene

ABSTRACT

Idiopathic infantile hypercalcemia (IHH) is a rare cause of hypercalcemia. It is a disease characterized by dehydration, vomiting and failure to thrive, most commonly caused by mutations in 24-hydroxylase (CYP24A1). Recently, mutations in the sodium phosphate cotransporter (SLC34A1) expressed in the kidney were discovered as an additional cause of idiopathic infantile hypercalcemia. In this article, a case of idiopathic infantile hypercalcemia with bilateral nephrocalcinosis with homozygous mutation in the SLC34A1 gene is presented. Due to the increased risk of nephrocalcinosis and kidney failure, it should be kept in mind especially in patients with a family history of nephrolithiasis and consanguineous marriages.

Key words: Hypercalcemia, nephrolithiasis, infant