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Refractory hypercalcemic crisis: A case of primary hyperparathyroidism with Gitelman syndrome [PDF]

Journal of International Medical Research
Primary hyperparathyroidism is characterized by hypercalcemia and hypophosphatemia caused by excessive parathyroid hormone secretion. Gitelman syndrome, a rare autosomal recessive salt-losing tubulopathy, presents with hypokalemia, hypomagnesemia ...
Menghua Yuan, Baoping Wang, Yaxin Liu, Chonggui Zhu, Tong Liu, Qing He, Ming Liu   +6 more
doaj   +2 more sources

Recurrent infection-associated hypokalemia leading to the diagnosis of Gitelman syndrome: a case report [PDF]

BMC Nephrology
Background Gitelman syndrome (GS) is an inherited renal tubulopathy characterized by chronic hypokalemia, hypomagnesemia, and metabolic alkalosis. Case presentation We report a case of a 36-year-old GS woman, who experienced recurrent respiratory tract ...
Xiu Yan, Wuriliga Gong, Zhengliang Wei, Hongwei Jin, Heyuan Wang, Guang Wang   +5 more
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Adult-Onset Gitelman Syndrome: Case Analysis and Literature Review [PDF]

Case Reports in Medicine
Conclusion: The clinical and biochemical findings in these patients are strongly indicative of Gitelman syndrome, even in the absence of genetic confirmation.
Intissar Haddiya, Sara Ramdani, Aymane Kadi, Imane Machmachi, Mohammed Benabdelhak, Yassamine Bentata   +5 more
doaj   +2 more sources

Gitelman syndrome presenting with lower limb paralysis: a case report [PDF]

Journal of Medical Case Reports
Background Gitelman syndrome is a rare autosomal recessive disorder that affects the distal convoluted tubules of the kidneys. It often manifests through various symptoms, including muscle weakness, paresthesia, fatigue, or paralysis.
Hajar Jamal Teir, Nour AlQaderi, Khadiga Yasser Abdelmonem, Ahmed Elbagir Ibrahim, Abdallah Alzoubi   +4 more
doaj   +2 more sources

Potential Factors of Diabetes in Gitelman Syndrome and the Choices of the Appropriate Hypoglycemic Drugs: A Literature Narrative Review [PDF]

Current Issues in Molecular Biology
Gitelman syndrome (GS) is a rare, autosomal recessive salt-losing tubulopathy caused by mutations in the SLC12A3 gene. It involves dysfunction of the sodium-chloride cotransporter positioned on the apical membranes of the distal convoluted tubule cells ...
Izabela Szubert, Aleksandra Cader-Ptak, Ewa Kwiatkowska   +2 more
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Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report

Frontiers in Genetics, 2023
Background: The Gitelman syndrome (GS) is an autosomal recessive disorder of renal tubular salt handling. Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and renin-angiotensin-aldosterone system ...
Wenqing Chen, Wenqing Chen, Wenqing Chen, Wenqing Chen, Qin Zhou, Qin Zhou, Qin Zhou, Qin Zhou, Hongjun Chen, Hongjun Chen, Hongjun Chen, Hongjun Chen, Heng Li, Heng Li, Heng Li, Heng Li, Jianghua Chen, Jianghua Chen, Jianghua Chen, Jianghua Chen   +19 more
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Hypokalaemic paralysis and metabolic alkalosis in a patient with Sjögren syndrome: a case report and literature review

BMC Nephrology, 2021
Background Acquired Gitelman syndrome is a very rare disorder reported in association with autoimmune disorders, mostly Sjögren syndrome. It is characterized by the presence of hypokalaemic metabolic alkalosis, hypocalciuria, hypomagnesaemia and hyper ...
Rasika Ranaweerage, Shehan Perera, Aruna Gunapala   +2 more
doaj   +1 more source

The concomitance of Gitelman syndrome with nephrocalcinosis in a case followed-up for primary biliary cirrhosis

Український Журнал Нефрології та Діалізу, 2023
Gitelman syndrome is a rare autosomal recessive renal tubular disease characterized by hypokalemia, metabolic alkalosis, and hypocalciuria. The syndrome develops as a result of various mutations in the SLC12A3 gene. This manuscript aims to highlight the
Melya Pelin Kırık, Can Hüzmeli
doaj   +1 more source

Gitelman Syndrome in a Case of Diabetic Kidney Disease: A Diagnostic and Therapeutic Dilemma [PDF]

Journal of Clinical and Diagnostic Research, 2018
Gitelman syndrome is an autosomal recessive disorder that usually presents with hypokalemia, hypomagnesemia, hypocalciuria and normal blood pressure. In contrast to Bartter syndrome it presents in late adulthood.
Vaibhav Seth, Niladri Sarkar, Somnath Mandal, Subhasis Neogi, Shambaditya Das   +4 more
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A Case of Gitelman Syndrome with Hypercalcemia Secondary to Primary Hyperparathyroidism

Case Reports in Endocrinology, 2022
Gitelman syndrome is a rare autosomal recessive salt-losing tubulopathy characterized by hypokalemia, hypomagnesemia, hypocalciuria, and secondary hyperaldosteronism. However, hypercalcemia secondary to hypocalciuria is extremely rare during the disease.
Zeinab Alnahas, Marko Markov, Mohamad H. Horani   +2 more
doaj   +1 more source