Gitelman syndrome (GS) is a rare renal disorder, and little is known about its impact on pregnancy. We report the successful outcome of pregnancy in a patient with GS that was managed with aggressive oral and intravenous potassium supplementation.
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Gitelman syndrome with diabetes and kidney stones: A case report.
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 PDFAutoimmune Tubulopathies.
J 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 PDFThe evolving concepts of KS-WNK1 effect on NCC activity.
Am J Physiol Renal Physiol
December 2024
Molecular Physiology Unit, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, and Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Mexico City, 14080 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 Familiar 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 PDFGitelman syndrome patient managed with amiloride during pregnancy and lactation.
BMC Nephrol
November 2024
Nephrology Division, Department of Internal Medicine, University of Utah Health, Salt Lake City, USA.
Article Synopsis
- Gitelman Syndrome (GS) is a rare genetic disorder that leads to low potassium and magnesium levels, alongside other metabolic issues, and presents unique challenges in managing these conditions during pregnancy.
- A case study of a 20-year-old woman with GS highlights the use of amiloride, a medication typically used for GS, to successfully manage her persistent low potassium levels during pregnancy and lactation.
- The treatment with amiloride effectively controlled her symptoms without causing any harmful effects on her newborn, suggesting potential safety for the mother and child under careful management.
Finerenone as a Novel Treatment for Gitelman Syndrome: A Case Study of a 35-Year-Old Male with Adrenal Mass and Hypokalemia.
Am J Case Rep
November 2024
Department of Endocrinology, Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.
Article Synopsis
- - Gitelman syndrome (GS) is a rare genetic disorder leading to electrolyte imbalances, notably low potassium levels, due to a mutation in the SLC12A3 gene, affecting kidney function.
- - A 35-year-old man with GS and severe hypokalemia was treated with finerenone, a new medication that helps increase potassium levels without the adverse effects commonly seen with other treatments like spironolactone.
- - This case is significant as it represents the first reported use of finerenone for Gitelman syndrome, providing an alternative treatment option for patients unable to tolerate traditional therapies.
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