Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.

doi:10.1681/ASN.2014101025

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Article

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.

Journal of the American Society of Nephrology : JASN - 1 Feb 2016

Schlingmann Karl P, Ruminska Justyna, Kaufmann Martin, Dursun Ismail, Patti Monica, Kranz Birgitta, Pronicka Ewa, Ciara Elzbieta, Akcay Teoman, Bulus Derya, Cornelissen Elisabeth A M, Gawlik Aneta, Sikora Przemysław, Patzer Ludwig, Galiano Matthias, Boyadzhiev Veselin, Dumic Miroslav, Vivante Asaf, Kleta Robert, Dekel Benjamin, Levtchenko Elena, Bindels René J, Rust Stephan, Forster Ian C, Hernando Nati, Jones Glenville, Wagner Carsten A, Konrad Martin

Abstract excerpt

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 D3-24-hydroxylase (CYP24A1) were described that lead to increased sensitivity to vitamin D due to accumulation of the active metabolite 1,25-(OH)2D3. In a subgroup of patients who presented...

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PMID: 26047794
DOI: 10.1681/ASN.2014101025
PMCID: PMC4731111

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