Autosomal-recessive mutations in SLC34A1 encoding sodium-phosphate cotransporter 2A cause idiopathic infantile hypercalcemia
KP Schlingmann, J Ruminska… - Journal of the …, 2016 - journals.lww.com
Idiopathic infantile hypercalcemia (IIH) is characterized by severe hypercalcemia with failure
to thrive, vomiting, dehydration, and nephrocalcinosis. Recently, mutations in the vitamin D
catabolizing enzyme 25-hydroxyvitamin D 3-24-hydroxylase (CYP24A1) were described that
lead to increased sensitivity to vitamin D due to accumulation of the active metabolite 1, 25-
(OH) 2 D 3. In a subgroup of patients who presented in early infancy with renal phosphate
wasting and symptomatic hypercalcemia, mutations in CYP24A1 were excluded. Four …
to thrive, vomiting, dehydration, and nephrocalcinosis. Recently, mutations in the vitamin D
catabolizing enzyme 25-hydroxyvitamin D 3-24-hydroxylase (CYP24A1) were described that
lead to increased sensitivity to vitamin D due to accumulation of the active metabolite 1, 25-
(OH) 2 D 3. In a subgroup of patients who presented in early infancy with renal phosphate
wasting and symptomatic hypercalcemia, mutations in CYP24A1 were excluded. Four …