A16407 Gender differences of phenotype in Gitelman syndrome, and the management of pregnancy in this disease: a large cohort of 105 patients

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Abstract

Objectives:

A critical role for thiazide-sensitive sodium-chloride co-transporter (NCC) in the regulation of renal sodium homeostasis and blood pressure has been proposed. Mutations of SLC12A3 gene encoding NCC cause Gitelman syndrome (GS), an inherited salt-losing tubulopathy. As a good model to understand the pathophysiological mechanism of salt-sensitive hypertension, GS has attracted more attentions. In this study, we explored the phenotypic features in different genders, and the pregnant issue for it.

Methods:

GS cases at our institution within the last 10 years were collected, and detailed data were analyzed. Articles on pregnancy in GS were also systemically reviewed and analyzed.

Results:

A total of 105 GS patients were included, among them 42.9% were female. Male patients had a lower onset age than female patients (P = 0.042). Polyuria were more frequently reported by male patients (P = 0.007), and the other symptoms were comparable between males and females. Both the lowest (P < 0.001) and baseline (P = 0.025) serum potassium were lower in male. No difference was observed in the results of the HCT test. Nine of the 45 female GS patients delivered after disease onset and the outcomes were generally favorable. There was an obvious decrease of serum potassium level when patients become pregnant, accompanied by the increased need for potassium supplementation. Together with the 38 reported pregnancies with live births in references, oligohydramnios was the most common gestational complication (n = 8), and ventricular tachycardia was the most severe (n = 2). No specific complications were noticed both with cesarean section and vaginal delivery.

Conclusion:

Male GS patients have a more severe phenotype. Women affected with this disease can become pregnant and have a generally favorable neonatal outcome.

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