AI 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.

Article Abstract

BACKGROUND Gitelman syndrome (GS) is an autosomal recessive salt-losing tubulopathy characterized by renal potassium loss, hypokalemia, metabolic alkalosis, hypocalciuria, hypomagnesemia, and hyper-reninemic hyperaldosteronism. Finerenone is a non-steroidal mineralocorticoid receptor antagonist that inhibits receptor-mediated sodium reabsorption and decreases receptor overactivation. This report describes a 35-year-old man with hypokalemia, a mass in the right adrenal gland, and a diagnosis of Gitelman syndrome with a c.1456>A heterozygous variant of the SLC12A3 gene, treated with finerenone. CASE REPORT A 35-year-old man was admitted to the affiliated Hospital of Qingdao University because of a mass in the right adrenal gland. He was in generally good condition upon admission. He was a non-smoker and non-drinker. The examination at admission led to diagnosis of severe hypokalemia. Genetic tests showed that he carried a homozygous pathogenic variant c.1456>A in SLC12A3, which can confirm the diagnosis of Gitelman syndrome. Spironolactone was used to increase the blood potassium level, but after adverse effects were noted, finerenone was used, which greatly improved his blood potassium levels. CONCLUSIONS For patients with Gitelman syndrome who cannot tolerate adverse effects such as sex hormone-related adverse reactions from using non-selective mineralocorticoid receptor antagonists, especially male patients, finerenone may be considered as an adjunct therapy for potassium retention and magnesium supplementation. To the best of our knowledge, this is the first report in the world of using finerenone to treat Gitelman syndrome. This provides more options for treatment of patients in the future.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11542730PMC
http://dx.doi.org/10.12659/AJCR.944492DOI Listing

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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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Mutations in the CLCNKB gene (1p36), encoding the basolateral chloride channel ClC-Kb, cause type 3 Bartter syndrome. We identified a family with a mixed Bartter/Gitelman phenotype and early-onset kidney failure and by employing a candidate gene approach, identified what we believe is a novel homozygous mutation (CLCNKB c.499G>T [p.

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