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Gitelman Syndrome Presenting With Syncope and Treatment-Refractory Hypokalemia in A Young Woman: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Gitelman syndrome (GS) is a rare autosomal recessive tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. A 27‐year‐old woman presented with a witnessed syncopal episode, progressive weakness, and nausea.
Melkie IS, Wolde AA, Mengesha LY, Kinfe RA, Mengistie CT, Gubai ZY.   +5 more
europepmc   +2 more sources

Gitelman syndrome [PDF]

Orphanet Journal of Rare Diseases, 2008
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion.
Levtchenko Elena N, Knoers Nine VAM
doaj   +6 more sources

The miRNA Expression of Urinary Extracellular Vesicles in Patients With Gitelman Syndrome: The Role of hsa-let-7d-3p. [PDF]

FASEB J
This study identifies differentially expressed miRNAs in urinary extracellular vesicles and kidney biopsies from Gitelman syndrome patients. In particular, hsa‐let‐7d‐3p is the only upregulated miRNA that negatively regulates NEDD4L, a key modulator of sodium transport.
Chen CT, Lin SH, Chen MH, Chang HY, Tseng MH, Lo YJ, Peng KC, Huang CC, Sung CC.   +8 more
europepmc   +2 more sources

Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report. [PDF]

Nephrology (Carlton)
ABSTRACT Gitelman syndrome (GS) is considered one of the most common hereditary renal tubular disorders, characterised by hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. The primary cause of this disorder resides in the SLC12A3 gene, which encodes the NaCl cotransporter in the distal convoluted tubule, and for which more than 500 ...
Tomás-Simó P, Sierra-Rivera A, Checa-Ros A, Rodríguez-López R, Galán-Serrano A, D'Marco L.   +5 more
europepmc   +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

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

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

Diabetic ketoacidosis in a patient known with Gitelman syndrome [PDF]

JRSM Open, 2023
Summary Gitelman syndrome is a rare hereditary nephropathy, which causes chronic metabolic alkalosis with low potassium and magnesium levels. There is no known coherence between Gitelman syndrome and Type-1 diabetes but patients with both diseases that ...
Ida Ringsing Nielsen, Patricia Almine Skat-Rørdam, Ivan Werner Jensen   +2 more
doaj   +2 more sources

Gitelman Syndrome: A Case Report. [PDF]

Cureus, 2023
Gitelman syndrome is a rare hereditary tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. In this case report, we describe a 21-year-old male who presented with myalgias, asthenia, general muscle weakness, and hypokalemia after receiving oral potassium supplementation for six months.
Rocha J, Pacheco M, Matos M, Ferreira S, Almeida JS.   +4 more
europepmc   +3 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
doaj   +2 more sources