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| http://dx.doi.org/10.1042/bj0260954 | DOI Listing |
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First Diagnosis of Gitelman Syndrome During Pregnancy in an Adolescent Female: A Case Report.
Cureus
May 2024
Department of Obstetrics and Gynaecology, General Hospital of Lamia, Lamia, GRC.
Article Synopsis
- Gitelman syndrome (GS) is a rare inherited disorder that causes low potassium levels, metabolic alkalosis, low calcium in urine, and high magnesium in urine, often leading to symptoms like muscle weakness and convulsions, typically appearing in late childhood or young adulthood.
- A case study of a 16-year-old pregnant woman revealed that she experienced severe abdominal pain, weakness, and vomiting during her first trimester, and tests showed low potassium and magnesium levels, leading to a diagnosis of GS.
- Throughout her pregnancy, she required potassium supplementation due to consistently low levels, highlighting the need for better management protocols for pregnant women with GS, as these cases are uncommon.
Recurrent tetany in a male patient with short bowel syndrome and Crohn's disease.
Prz Gastroenterol
November 2023
Department of Internal, Autoimmune, and Metabolic Diseases, School of Medicine, Medical University of Silesia, Katowice, Poland.
A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.
CEN Case Rep
October 2024
Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Kocamustafapasa Street No:53 Fatih, 34098, Istanbul, Turkey.
Gitelman syndrome is a rare, autosomal recessively inherited tubulopathy manifesting with hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. Common symptoms include fatigue, myalgia, reduced performance capacity, tetany, paresthesia, and delayed growth. However, as reported in the literature, diagnosis in some patients is prompted by an incidental finding of hypokalemia.
View Article and Find Full Text PDFRegulation of tricarboxylate transport and metabolism in ADP1.
Appl Environ Microbiol
February 2024
Department of Microbiology, University of Georgia, Athens, Georgia, USA.
Despite the significant presence of plant-derived tricarboxylic acids in some environments, few studies detail the bacterial metabolism of -aconitic acid (Taa) and tricarballylic acid (Tcb). In a soil bacterium, ADP1, we discovered interrelated pathways for the consumption of Taa and Tcb. An intricate regulatory scheme tightly controls the transport and catabolism of both compounds and may reflect that they can be toxic inhibitors of the tricarboxylic acid cycle.
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