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  • Title: Successful pregnancy outcome in a woman with a gain-of-function mutation of the calcium-sensing receptor. A case report.
    Author: Gherman RB, Bowen E, Eggleston MK, Teague KE, Sayles T, Brown EM, Pollak MR.
    Journal: J Reprod Med; 1999 Aug; 44(8):745-7. PubMed ID: 10483549.
    Abstract:
    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. CASE: 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. CONCLUSION: 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.
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