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 hypoca lcemia. There have been no earlier reported cases of pregnancy among patien ts with this disorder. CASE: A 26-year-old woman, gravida 1, para 0, was diagnosed at age being a heterozygous carrier of a mutation in the calcium-sensing receptor gene. St able maternal hypocalcemia was achieved during pregnancy with high-dose cal cium and 1,25-dihydroxyvitamin D-3 therapy. Prenatal diagnosis was accompli shed via amniocentesis at 16 weeks' gestation. The patient underwent cesare an delivery at 35 5/7 weeks' gestation after developing the HELLP syndrome. CONCLUSION: Patients with mutations Of the calcium-sensing receptor may hav e a successful pregnancy outcome. This abnormality may be transmitted to th e fetus via an autosomal dominant pattern.