A case of advanced breast cancer with Gitelman syndrome.

Int Cancer Conf J

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe, 650-0017 Japan.

Published: April 2023

Gitelman syndrome (GS) is a rare, mostly autosomal recessive disease this is a salt-losing tubulopathy caused by mutation of genes encoding sodium chloride (NCCT) and magnesium transporters in the thiazide-sensitive segments of the distal nephron. We encountered a 45-year-old female who has suffered from whole-body weakness because of hypokalemia for 8 years and diagnosed with Gitelman syndrome clinically. She visited the hospital with a complaint of an unrelieved hard mass of the left breast. The tumor was diagnosed as human epidermal growth factor receptor 2 (HER2)-positive breast cancer. We herein report this first case of a breast cancer patient with Gitelman syndrome who developed other neoplasms including colon polyp, adrenal adenoma, an ovarian cyst, and multiple uterine fibroids and provide a review of the pertinent literature.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9989089PMC
http://dx.doi.org/10.1007/s13691-022-00593-4DOI 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.

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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.
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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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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.
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