Objective: Hypokalemia and renal potassium (K) wasting are hallmarks of the group of disorders called Bartter's syndrome. The presence of hypomagnesemia and a low rate of excretion of calcium are currently used to characterize a subgroup of these patients as having Gitelman's syndrome (GS) in which the molecular lesion is a defect in the thiazide-sensitive NaCl cotransporter in the distal convoluted tubule. This study was undertaken to examine whether bicarbonaturia or hypomagnesemia exacerbates the kaliuresis in patients with GS.
Methods: Six patients with most of the diagnostic features of GS were examined. To examine the role of bicarbonaturia, the transtubular K concentration gradient (TTKG) was assessed before and after an oral load of NH4Cl which caused the urine pH to be < 6. To evaluate the role of hypomagnesemia, the TTKG was examined after an infusion of enough magnesium (Mg) to achieve normal levels of Mg in plasma for close to 24 h.
Results: The TTKG remained very high even when the pH of the urine was < 6.0. An infusion of Mg caused the TTKG to approach expected values for hypokalemia in 4 of 6 patients. The infusion of Mg was extended in 1 patient who had a sustained high TTKG for 24 h; the TTKG remained elevated for 96 h despite normal plasma Mg levels.
Conclusions: Bicarbonaturia does not play a critical role in maintaining the very high TTKG in these patients. The K wasting in 4 of 6 of these patients could largely be attributed to hypomagnesemia and/or Mg depletion. The plasma aldosterone level tended to be higher in patients who did not respond to the infusion of Mg. Therefore, these patients may not represent a homogeneous group with regard to the pathophysiology of their renal K wasting.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1159/000013303 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The 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.
Cardiovascular and arrhythmic manifestations of Bartter's and Gitelman's syndromes: do not forget the heart. A narrative literature review.
J Hypertens
February 2025
Nephrology, Dialysis and Transplantation Unit, Department of Medicine, University of Padova, Padova, Italy.
Article Synopsis
- 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.
- Major heart-related problems can arise, such as arrhythmias, palpitations, and even sudden cardiac death, influenced by chronic electrolyte imbalances and neurohormonal changes.
- The review emphasizes the need for collaboration between nephrologists and cardiologists in managing these patients due to the complex cardiovascular risks associated with these syndromes.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!