Gitelman syndrom is a rare congenital tubulopathy characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. We report a case of a 32-year-old patient admitted for asymptomatic hypokalemia and hypomagnesemia in the 30th week of gestation. A diagnosis of Gitelman syndrom was made and intravenous administration of potassium chloride in high doses combined with spironolactone was started. Despite intensive potassium supplementation (8 g/day), the serum potassium levels remained at the lower limit of normality throughout the pregnancy. The patient delivered a healthy female 2670 g/48 cm after labor induction in the 39th week of gestation. A summary of 22 so far published cases of Gitelman syndrome in pregnancy is presented. The analysis of published case studies suggests a need for ion supplementation, reduction of urinary potassium wasting, monitoring of fetal well-being and amniotic fluid levels. Pregnancy has a very favorable perinatal prognosis despite critical serum levels of potassium and magnesium throughout the pregnancy.
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Am J Med Genet A
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