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Article

Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake.

Pediatric nephrology (Berlin, Germany) - 1 Jan 2015

Dinour Dganit, Davidovits Miriam, Aviner Shraga, Ganon Liat, Michael Leonid, Modan-Moses Dalit, Vered Iris, Bibi Haim, Frishberg Yaacov, Holtzman Eli J

Abstract excerpt

BACKGROUND: Hypercalcemia is caused by many different conditions and may lead to severe complications. Loss-of-function mutations of CYP24A1, encoding vitamin D-24-hydroxylase, have recently been identified in idiopathic infantile hypercalcemia and in adult kidney stone disease. The aim of this study was to investigate the genetics and clinical features of both infantile and maternal hypercalcemia. METHODS: We...

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PMID: 25194629
DOI: 10.1007/s00467-014-2889-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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