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

Keywords: Gitelman syndrome, primary biliary cirrhosis, nephrocalcinosis, hypokalemia.

Abstract

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 association of Gitelman Syndrome with nephrocalcinosis in a 48-year-old female patient who presented with pain and cramps in the lower limbs.

Downloads

Download data is not yet available.

References

Kurtz I. Molecular pathogenesis of Bartter's and Gitelman's syndromes. Kidney Int. 1998;54: 1396-410.  doi:10.1046/j.1523-1755.1998.00124.x.

Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F, et al. Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. [Інтернет]. American journal of human genetics. 1996;59(5):1019-26.Available from: https://pubmed.ncbi.nlm.nih.gov/8900229/. (Last accessed: 15.06.2023).

Balavoine AS, Bataille P, Vanhille P, Azar R, Noël C, Asseman P, et al. Phenotype–genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome. European journal of endocrinology. 2011;165(4):665-673.doi: 10.1530/EJE-11-0224.

Nuñez-Gonzalez L, Carrera N, Garcia-Gonzalez MA. Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians. International Journal of Molecular Sciences. 2021;22(21):11414.doi: 10.3390/ijms222111414.

Iqbal Z, Sayer JA. Chondrocalsinosis and Gitelman syndrome. QJM. 2016;109: 563–564.  doi: 10.1093/qjmed/hcw045.

Ham Y, Mack H, Colville D, Harraka P, Savige J. Gitelman syndrome and ectopic calcification in the retina and joints. Clinical Kidney Journal. 2021;14(9): 2023-2028.doi:10.1093/ckj/sfab034.

Riehl J, Schneider B, Bongartz D, Sieberth HG. Medullary nephrocalcinosis: sonografic findings in adult patient.[Інтернет]. Bilgeung. 1995;62:18-22. Available from:https://pubmed.ncbi.nlm.nih.gov/7756819/. (Last accessed: 15.06.2023).

Alon US. Nephrocalcinosis.[Інтернет]. Curr Opin Pediatr. 1997;9:60-5.Available from:https://pubmed.ncbi.nlm.nih.gov/9204244/. (Last accessed: 15.06.2023).

Garel L, Filiatrault D, Robitaille P. Nephrocalcinosis in Bartter's syndrome. Pediatr Nephrol.1988;2:316-317. doi:10.1007/BF00858685.

KOŞAN CA. Bartter syndrome case with nephrocalcinosis.  Atatürk Üniversitesi Tıp Dergisi. 2001;033(2):57-59.

Chen Q, Wang X, Min J, Wang L, Mou L. Kidney stones and moderate proteinuria as the rare manifestations of Gitelman syndrome. BMC nephrology. 2021;22(1):1-6.doi: 10.1186/s12882-020-02211-y.

Mount D, Sayegh MH, Singh AK. Core concepts in the disorders of fluid,electrolytes, and acid-base balance. New York (NY): Springer, 2013.377s.

Kim YK, Song HC, Kim YS, Choi EJ. Acquired Gitelman Syndrome. Electrolyte Blood Press. 2009;7:5-8.  doi:10.5049/EBP.2009.7.1.5.


Abstract views: 360
PDF Downloads: 392
Published
2023-07-14
How to Cite
Kırık, M. P., & Hüzmeli, C. (2023). The concomitance of Gitelman syndrome with nephrocalcinosis in a case followed-up for primary biliary cirrhosis. Ukrainian Journal of Nephrology and Dialysis, (3(79), 3-6. https://doi.org/10.31450/ukrjnd.3(79).2023.01