Hyponatremia: A Rare Complication of Gitelmans's Syndrome - Literature Review and Clinical Case

1 Matsunoshita N, Nozu K, Shono A, et al. Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics. Genet Med 2016; 18:180. Search in Google Scholar

2 Ring T, Knoers N, Oh MS, Halperin ML. Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome. Pediatr Nephrol 2002; 17:612. Search in Google Scholar

3 Bianchetti MG, Edefonti A, Bettinelli A. The biochemical diagnosis of Gitelman disease and the definition of "hypocalciuria". Pediatr Nephrol 2003; 18:409. Search in Google Scholar

4 Blanchard A, Bockenhauer D, Bolignano D, et al. Gitelman syndrome: consensus and guidance from a kidney disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int 2017; 91:24. Search in Google Scholar

5 Nozu K, Iijima K, Kanda K, et al. The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies. J Clin Endocrinol Metab 2010; 95: E511. Search in Google Scholar

6 Colussi G, Rombolà G, Brunati C, De Ferrari ME. Abnormal reabsorption of Na+/CI- by the thiazideinhibitable transporter of the distal convoluted tubule in Gitelman's syndrome. Am J Nephrol 1997; 17:103. Search in Google Scholar

7 Colussi G, Bettinelli A, Tedeschi S, et al. A thiazide test for the diagnosis of renal tubular hypokalemic disorders. Clin J Am Soc Nephrol 2007; 2:454. Search in Google Scholar

8 Peng X, Zhao B, Zhang L, et al. Hydrochlorothiazide Test as a Tool in the Diagnosis of Gitelman Syndrome in Chinese Patients. Front Endocrinol (Lausanne) 2018; 9:559. Search in Google Scholar

9 Corbetta S, Raimondo F, Tedeschi S, et al. Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes. Nephrol Dial Transplant 2015; 30:621. Search in Google Scholar

10 Konrad M, Nijenhuis T, Ariceta G, et al. Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders. Kidney Int 2021; 99:324. Search in Google Scholar

11 Gladziwa U, Schwarz R, Gitter AH, et al. Chronic hypokalaemia of adults: Gitelman's syndrome is frequent but classical Bartter's syndrome is rare. Nephrol Dial Transplant 1995; 10:1607. Search in Google Scholar

12 Ji W, Foo JN, O'Roak BJ, et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 2008; 40:592. Search in Google Scholar

13 Hsu YJ, Yang SS, Chu NF, et al. Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure. Nephrol Dial Transplant 2009; 24:1170. Search in Google Scholar

14 Blanchard A, Vallet M, Dubourg L, et al. Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study. J Am Soc Nephrol 2019; 30:1534. Search in Google Scholar

15 Wan X, Perry J, Zhang H, et al. Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Associated with Lower Serum Potassium. J Am Soc Nephrol 2021; 32:756. Search in Google Scholar

16 Vargas-Poussou R, Dahan K, Kahila D, et al. Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrol 2011; 22:693. Search in Google Scholar

17 Viering DHHM, Hureaux M, Neveling K, et al. Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome. J Am Soc Nephrol 2023; 34:333. Search in Google Scholar

18 Viering D, Schlingmann KP, Hureaux M, et al. Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA. J Am Soc Nephrol 2022; 33:305. Search in Google Scholar

19 Simon DB, Nelson‐Williams C, Bia M et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide‐sensitive Na‐Cl cotransporter. Nature Genetics 1996; 12:24–30 Search in Google Scholar

20 Bettinelli A, Bianchetti MG, Giardin E et al. Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 1992; 120: 38–43 Search in Google Scholar

21 Sonnenblick M, Friedlander Y, Rosin AJ. Diuretic‐induced severe hyponatremia: Review and analysis of 129 reported patients. Chest 1993; 103: 601–606 Search in Google Scholar

22 Magaldi AJ. New insights into the paradoxical effect of thiazides in diabetes insipidus therapy. Nephrol Dial Transplant 2000; 15: 1903–1905. Search in Google Scholar

23 Luthy C, Bettinelli A, Iselin S et al. Normal prostaglandinuria E2 in Gitelman's syndrome, the hypocalciuric variant of Bartter's syndrome. Am J Kidney Dis 1995; 25: 824–828. Search in Google Scholar

24 Fichmann MP, Vorherr H, Kleeman CR, Telfer N. Diuretic‐induced hyponatremia. Ann Intern Med 1971;75: 853–863 Search in Google Scholar

25 Sonnenblick M, Rosin AJ. Significance of the measurements of uric acid fractional clearance in diuretic induced hyponatraemia. Postgrad Med J 1986; 62: 449–452 Search in Google Scholar

26 Hanihara T, Amagai I, Hagimoto H, Makimoto Y. Hypouricemia in chronic schizofrenic patients with polydipsia and hyponatremia. J Clin Psychiatry 1997; 58:256–260 Search in Google Scholar

27 Muller RJ, Lann HD. Thiazide diuretics and polydipsia in schizofrenic patients. Am J Psychiatry1991;148–190. Search in Google Scholar

28 Maesaka JK, Batuman V, Ydd M, Salem M, Sved AF, Venkatesan J. Hyponatremia and hypouricemia: differentiation from SIADH. Clin Nephrol1990; 33: 174–178 Search in Google Scholar

29 Tinsatul U, Sitprija V. Hyponatremia, and hypokalemia in obstructive jaundice: a case study. J Med Assoc Thailand 1970; 53: 437–442 Search in Google Scholar

30 Arranz‐Caso JA, Fernandez de Paz FJ, Barrio V, Cuadrada-Gomez LM, Albarran-Fernandez F, Alvarez de Mon M. Severe renal hypouricemia secondary to hyperbilirubinemia. Nephron 1995; 71: 354–356 Search in Google Scholar