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Challenges in diagnosing and treating Liddle syndrome in resource-limited settings: A case report from Indonesia.
Narra J
December 2024
Department of Internal Medicine, Faculty of Medicine, Universitas Sebelas Maret, Surakarta, Indonesia.
Liddle syndrome, a rare form of monogenic hypertension, poses significant diagnostic and therapeutic challenges due to its phenotypic variability and the need for genetic testing. The rarity of the condition, coupled with the limited availability of first-line treatments such as epithelial sodium channel (ENaC) blockers, makes this case report particularly urgent and novel, highlighting alternative management strategies in resource-limited settings. The aim of this case report was to present the diagnostic challenges, therapeutic strategies, and clinical outcomes of a patient with Liddle syndrome who did not have access to ENaC blockers, emphasizing the importance of early recognition and personalized treatment.
View Article and Find Full Text PDFA Case of Primary Aldosteronism Masquerading as Bartter and Gitelman Syndromes.
Cureus
December 2024
Department of Medicine, Jawaharlal Nehru Medical College and Hospital, Aligarh Muslim University, Aligarh, IND.
Primary aldosteronism (PA) is a common cause of secondary hypertension, with familial hyperaldosteronism (FH) contributing to a lesser number of cases. FH type IV, a rare subtype, has hardly been reported as a subtype of PA cases. We present a case of a 27-year-old female who presented to the emergency department with circumoral tingling and numbness.
View Article and Find Full Text PDFComparing integrative ventilatory and renal acid-base acclimatization in lowlanders and Tibetan highlanders during ascent to 4,300 m.
Proc Natl Acad Sci U S A
January 2025
Department of Biology, Faculty of Science and Technology, Mount Royal University, Calgary, AB T3E 6K6, Canada.
With over 14 million people living above 3,500 m, the study of acclimatization and adaptation to high altitude in human populations is of increasing importance, where exposure to high altitude (HA) imposes a blood oxygenation and acid-base challenge. A sustained and augmented hypoxic ventilatory response protects oxygenation through ventilatory acclimatization, but elicits hypocapnia and respiratory alkalosis. A subsequent renally mediated compensatory metabolic acidosis corrects pH toward baseline values, with a high degree of interindividual variability.
View Article and Find Full Text PDFComplexities, Benefits, Risks, and Clinical Implications of Sodium Bicarbonate Administration in Critically Ill Patients: A State-of-the-Art Review.
J Clin Med
December 2024
Emergency Medicine, Freeman Health System, Joplin, MO 64804, USA.
Sodium bicarbonate has been used in the treatment of different pathologies, such as hyperkalemia, cardiac arrest, tricyclic antidepressant toxicity, aspirin toxicity, acute acidosis, lactic acidosis, diabetic ketoacidosis, rhabdomyolysis, and adrenergic receptors' resistance to catecholamine in patients with shock. An ongoing debate about bicarbonate's efficacy and potential harm has been raised for decades because of the lack of evidence supporting its potential efficacy. Despite the guidelines' restrictions, sodium bicarbonate has been overused in clinical practice.
View Article and Find Full Text PDFA 21st-century update of Claude Bernard's Theory about the Constancy of the Internal Environment.
Neuropsychopharmacol Hung
December 2024
Municipal Clinic of Szentendre, Internal Medicine, Szentendre, Hungary.
Article Synopsis
- The understanding of ion compartments and cell membrane functions leads to insights into intracellular ions and their roles in health, especially concerning the regulation of carbon dioxide levels as a vital signaling molecule.
- Chronic stress alters ion patterns, influencing conditions like Metabolic Syndrome and mental disorders, highlighting the connection between ion balance and overall health.
- To maintain well-being and potentially extend lifespan, it's crucial to preserve the original ion pattern through proper ventilation and possibly the administration of specific ion salts.
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