Successful pregnancy outcome in a woman with a gain-of-function mutation of the calcium-sensing receptor. A case report.
BACKGROUND
Gain-of-function mutations of the calcium-sensing receptor gene have recently been identified as a cause of familial hypercalciuric hypocalcemia. There have been no earlier reported cases of pregnancy among patients with this disorder.


METHODS
A 26-year-old woman, gravida 1, para 0, was diagnosed at age 18 as being a heterozygous carrier of a mutation in the calcium-sensing receptor gene. Stable maternal hypocalcemia was achieved during pregnancy with high-dose calcium and 1,25-dihydroxyvitamin D3 therapy. Prenatal diagnosis was accomplished via amniocentesis at 16 weeks' gestation. The patient underwent cesarean delivery at 35 5/7 weeks' gestation after developing the HELLP syndrome.


CONCLUSIONS
Patients with mutations of the calcium-sensing receptor may have a successful pregnancy outcome. This abnormality may be transmitted to the fetus via an autosomal dominant pattern.
Gherman
R B
RB
Department of Obstetrics and Gynecology, Naval Medical Center, Portsmouth, Virginia, USA. ghermtoo@aol.com
Bowen
E
E
Eggleston
M K
MK
Teague
K E
KE
Sayles
T
T
Brown
E M
EM
Pollak
M R
MR
D000328:Adult; D002118:Calcium / Q000008:administration & dosage / Q000378:metabolism*; D002128:Calcium Metabolism Disorders / Q000235:genetics*; D002762:Cholecalciferol / Q000008:administration & dosage; D005260:Female; D006801:Humans; D006996:Hypocalcemia / Q000209:etiology / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications; D011256:Pregnancy Outcome; D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface / Q000235:genetics*
D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface; D002762:Cholecalciferol; D002118:Calcium