Making (mis) sense of asymptomatic marked hypercalcemia in pregnancy.

Giuseppe MalteseLouise IzattBarbara M McGowanKashif HafeezJohnathan G HubbardPaul V Carroll

Published in: Clinical case reports (2017)

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.

Keyphrases

rare case
preterm birth
pregnancy outcomes
genome wide
pregnant women
gene expression