Making (mis) sense of asymptomatic marked hypercalcemia in pregnancy

Giuseppe Maltese; Louise Izatt; Barbara M. McGowan; Kashif Hafeez; Johnathan G. Hubbard; Paul V. Carroll

doi:10.1002/ccr3.1074

Making (mis) sense of asymptomatic marked hypercalcemia in pregnancy

Giuseppe Maltese, Louise Izatt, Barbara M. McGowan, Kashif Hafeez, Johnathan G. Hubbard, Paul V. Carroll

Medical & Molecular Genetics

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Abstract

We describe a rare case of homozygous inactivating calcium-sensing receptor mutation detected during pregnancy and mimicking primary hyperparathyroidism. In pregnancy, the differential diagnosis of hypercalcaemia requires a cautious approach as physiological changes in calcium homeostasis may mask rare genetic conditions.

Original language	English
Pages (from-to)	1587-1590
Number of pages	4
Journal	Clinical Case Reports
Volume	5
Issue number	10
Early online date	17 Aug 2017
DOIs	https://doi.org/10.1002/ccr3.1074
Publication status	Published - Oct 2017

Keywords

Familial hypocalciuric hypercalcemia, homozygous mutation, hypercalcemia, pregnancy

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10.1002/ccr3.1074Licence: CC BY-NC-ND

Making (mis) sense of asymptomatic_MALTESE_Firstonline17August2017_GOLD VoR (CC BY-NC-ND)Final published version, 124 KBLicence: CC BY-NC-ND

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title = "Making (mis) sense of asymptomatic marked hypercalcemia in pregnancy",

abstract = "We describe a rare case of homozygous inactivating calcium-sensing receptor mutation detected during pregnancy and mimicking primary hyperparathyroidism. In pregnancy, the differential diagnosis of hypercalcaemia requires a cautious approach as physiological changes in calcium homeostasis may mask rare genetic conditions.",

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AU - Carroll, Paul V.

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Making (mis) sense of asymptomatic marked hypercalcemia in pregnancy

Abstract

Keywords

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