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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.
Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder.
Case Rep Endocrinol
August 2024
Department of Reproductive Biology Dr. Carlos Gual Castro Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City 14080, Mexico.
Case: We present the case of a woman who, during the neonatal period, presented salt-losing adrenal insufficiency associated with 46 XY gonadal dysgenesis. The genetic study found a steroidogenic acute regulatory protein (StAR) mutation.
Conclusion: Mutations in StAR result in a nonfunctional protein, which clinically translates into congenital adrenal hyperplasia and, in the case of patients with 46 XY karyotype, is accompanied by gonadal dysgenesis characterized by androgen deficiency, without alterations in anti-Müllerian hormone.
Gitelman syndrome with primary hyperparathyroidism: A case report.
Medicine (Baltimore)
August 2024
Division of Nephrology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China.
Article Synopsis
- Gitelman syndrome (GS) is a rare genetic disorder causing salt loss in the kidneys, but a patient with GS was newly diagnosed with hypercalcemia and primary hyperparathyroidism (PHPT).
- The patient had a long history of low potassium and magnesium levels, and lab tests confirmed GS alongside PHPT, highlighted by parathyroid hyperplasia.
- Treatment improved her potassium levels and joint pain, but managing her magnesium levels remained difficult due to increased urinary excretion caused by PHPT.
Salt-losing nephropathy associated with supraventricular arrhythmia.
BMJ Case Rep
July 2024
Internal Medicine, Wayne State University School of Medicine, Detroit, Michigan, USA.
We present a case of a young man with a new-onset supraventricular arrhythmia accompanied by polyuria and natriuresis with subsequent renal salt-wasting causing hypovolemic hyponatremia. Resolution of the electrolyte imbalance occurred only after successful atrial flutter ablation.
View Article and Find Full Text PDFHELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases.
Genes (Basel)
May 2024
Pediatric Research, Murcian Institute for Biosanitary Research (IMIB) Pascual Parrilla, 30120 Murcia, Spain.
Article Synopsis
- HELIX syndrome, caused by mutations in the claudin 10 b protein, presents with symptoms like hypohidrosis, xerophthalmia, and skin issues, and was detailed in a 2017 study involving only ten families.
- In this study, two adult brothers from a consanguineous Spanish family exhibited various symptoms, including skin anomalies and salt-losing nephropathy due to a novel genetic deletion.
- The findings suggest that early recognition of symptoms associated with HELIX syndrome can prevent misdiagnosis, emphasizing the need for specific genetic testing to ensure timely diagnosis and management.
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