In rare cases, patients with Gitelman syndrome may present with hypokalemic paralysis mimicking Guillain-Barré syndrome. The severity of resultant symptoms may be life-threatening. Controversial drugs such as aldactone, amiloride, and eplerenone should be used in this situation despite the lack of safety data.
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| http://dx.doi.org/10.1002/ccr3.1122 | DOI Listing |
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The evolving concepts of KS-WNK1 effect on NCC activity.
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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.
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- 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.
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- - 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.
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Cardiovascular and arrhythmic manifestations of Bartter's and Gitelman's syndromes: do not forget the heart. A narrative literature review.
J Hypertens
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Nephrology, Dialysis and Transplantation Unit, Department of Medicine, University of Padova, Padova, Italy.
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- Bartter's and Gitelman's syndromes are genetic kidney disorders that disrupt electrolyte balance and can lead to serious cardiovascular issues, despite being seen as benign.
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