Introduction: Gitelman syndrome is a rare hereditary renal tubulopathy, responsable of hypokalemia and hypomagnesaemia-related ionic disorders, which management is poorly codified during pregnancy. We report 12 cases of pregnancies with Gitelman syndrome and we compare our data with those of literature.
Material And Methods: It is a report of 12 pregnancies in 5 patients with Gitelman syndrome between 2002 and 2016. Follow up and outcome of pregnancy, delivery modalities and maternal-fetal prognosis have been collected.
Results: In our serie, maximum kaliemie observed was 3.4mmol/L, with an average potassium, over all pregnancies of 2.3mmol/L. Oral potassium and magnesium supplementation at the end of pregnancy were 8900mg/day and 460mg/day, respectively. There were no serious maternal complications. Two pregnancies were complicated by intrauterine growth retardation in a context of preeclampsia. There is a large disparity in the methods of anesthetic management of these patients. Materno-fetal prognosis at 1 month post-partum is good.
Conclusion: Gitelman syndrome is a rare pathology where there is a lack of homogeneity in management of pregnancy. Monitoring of monthly ionogram is necessary. The goal is to obtain stable, non-symptomatic kaliemias, which will never be standardized even in increasing treatment. The most important is to inform and detect situations at risk of decompensation, including vomiting or the use of certain anesthetics. In agreement with literature data, monitoring of fetal growth and the amount of amniotic fluid in the third trimester is still warranted. These pregnancies require the development of a common care in multidisciplinary consultation meeting.
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http://dx.doi.org/10.1016/j.nephro.2018.06.003 | DOI Listing |
Medicine (Baltimore)
January 2025
The Department of Clinical Laboratory, Zhejiang Hospital, Hangzhou, China.
Rationale: Gitelman syndrome (GS) is a rare hereditary electrolyte disorder caused by mutations in the SLC12A3 gene. There is limited literature on the role of hydrochlorothiazide (HCT) testing and the SLC12A3 single heterozygous mutation in the diagnosis and management of patients with GS. In addition, cases of GS with concomitant kidney stones are rare.
View Article and Find Full Text PDFJ Am Soc Nephrol
January 2025
Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université Paris Cité, F-75006 Paris, France.
The renal tubule and collecting duct express a large number of proteins, all having putative immunoreactive motives. Therefore, all can be the target of pathogenic autoantibodies. However, autoimmune tubulopathies seem to be rare and we hypothesize that they are underdiagnosed.
View Article and Find Full Text PDFAm J Physiol Renal Physiol
February 2025
Molecular Physiology Unit, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Mexico City, Mexico.
The field of the with-no-lysine kinases (WNKs) regulation of the thiazide-sensitive NaCl cotransporter (NCC) began at the start of the century with the discovery that mutations in two members of the family, WNK1 and WNK4, resulted in a condition known as familial hyperkalemic hypertension (FHHt). Since FHHt is the mirror image of Gitelman's syndrome that is caused by inactivating mutations of the SLC12A3 gene encoding NCC, it was expected that WNKs modulated NCC activity and that the increased function of the cotransporter is the pathophysiological mechanism of FFHt. This turned out to be the case.
View Article and Find Full Text PDFBMC Nephrol
November 2024
Nephrology Division, Department of Internal Medicine, University of Utah Health, Salt Lake City, USA.
Am J Case Rep
November 2024
Department of Endocrinology, Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.
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