Two cases of successful pregnancy in patients with Gitelman’s syndrome

Abstract

Gitelman’s syndrome (GS) is a distal convoluted tubule (DCT) defect clinically characterized by hypokalemic metabolic alkalosis. Pregnancy in women with GS often results in severe hypomagnesemia and hypokalemia. We report two cases of successful pregnancies, after previous fetal loss, in patients with GS managed with aggressive oral and intravenous electrolyte repletion. These cases illustrate increased potassium and magnesium requirements over the course of the pregnancies and are notable due to the high doses of electrolytes required. They also demonstrate the possibility of successful pregnancy outcomes with frequent laboratory monitoring and aggressive titration of electrolyte replacement either orally or intravenously to maintain appropriate serum levels necessary to provide a suitable environment for fetal development.

Clinical and laboratory features of female Gitelman syndrome and the pregnancy outcomes in a Chinese cohort

“…In addition to the 12 women and their 13 neonates included in our cohort, there were 43 reported pregnancies in 31 GS women with 36 neonates (case report or case series), 7,9‐29 for a total of 43 patients and 49 neonates.…”

“…At the same time, nausea and vomiting are common, accompanied by the gradually increased foetal demands. Although oestrogen hormones would keep rising during pregnancy and upregulate NCC expression, 12 GS patients still fail to reabsorb enough sodium because of the dysfunction of NCC. Thus, intensive monitoring and more supplementation of potassium are necessary for pregnant GS patients.…”

“…The pregnancy outcome in GS is generally favourable. However, there are still some cases with gestational complications, including oligohydramnios, gestational diabetes, foetal demise, spontaneous abortion, gestational hypertension, premature delivery, maternal death, intrauterine growth retardation, HELLP syndrome and placental abruption 7,9‐29 . Among these complications, third‐trimester oligohydramnios was found to be the most common.…”

Gitelman Syndrome in Pregnancy: A Clinical Challenge

“…The need for potassium during pregnancy increases 1.5 times. Based on the literature, the aim is to keep serum K levels above > 3 mEq / L and serum Mg + levels at a lower laboratory limit or near-normal levels [15,16]. A potassium level of 2.8 mmol/L was considered sufficient because severe side effects such as heart beat changes can be seen with high doses of potassium intake.…”

“…A mutation causes the syndrome in the SLC12A3 gene on chromosome 16, which leads to decreased function in the sodium-chlo-ride cotransporter systems in the distal tubules [6,7]. Hypomagnesaemia and hypokalemia occur because of the increased exchange of magnesium (Mg + ) and sodium (Na + ) in the kidneys.…”