A 21-Year-Old Woman with Suspecting Gitelman Syndrome

Berty Denny, Nurhasan Agung Prabowo, Desy Puspa Putri, Risalina Myrtha, Hendrastutik Apriningsih

Abstract

Introduction: Gitelman syndrome (GS), is a hereditary condition marked by a specific kidney function impairment. GS symptoms do not normally manifest until beyond the age of six years. We present a rare case of a 21-year-old woman with a background in generalized weakness muscle cramps with tetany, fever, and dyspnea.  The goal of this study is to give a case report of Gitelman syndrome suspicion.

Result: Gitelman syndrome is identified through clinical indicators and lab testing, such as low potassium and magnesium levels in the blood, metabolic alkalosis, and low calcium levels in the urine. We do a variety of physical and laboratory tests to determine the disease and rule out other possibilities. Molecular proof is difficult to get due to a lack of resources and the high expense of genetic testing, which has become one of our case report's flaws. This patient was diagnosed as suspecting Gitelman syndrome and treated for electrolyte imbalances. The patients were given replacement therapy, which comprised intravenous potassium, sodium, and chloride therapy, as well as calcium therapy. In addition, we also provided some symptomatic therapy. She was discharged five days later in fine condition.

Conclusion : This is one of the few reports of a 21-year-old lady being suspected of having Gitelman syndrome (GS). We conduct a battery of physical and laboratory tests to diagnose the disease and rule out other possibilities. We provide the appropriate therapies in accordance with the guidelines, and the outcomes are favorable.

Keywords

Gitelman syndrome; hereditary tubulopathy; hypokalemia; metabolic alkalosis; hypocalsiuria

Full Text:

PDF

References

Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O, Ellison DH, Karet Frankl FE, Knoers NV, Konrad M, Lin SH, Vargas-Poussou R. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2017 Jan;91(1):24-33. doi: 10.1016/j.kint.2016.09.046. PMID: 28003083. 2. 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;24:1170–1175. 3. Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008;3:22. 4. Graziani G, Fedeli C, Moroni L, Cosmai L, Badalamenti S, Ponticelli C. Gitelman syndrome: Pathophysiological and clinical aspects. QJM, 2010; 103(10): 741-8. 5.Takeuchi Y, Mishima E, Shima H, et al. Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome. J Am Soc Nephrol. 2015;26:271–279. 6. Vargas-Poussou R, Dahan K, Kahila D, et al. Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrol. 2011;22:693–703. 7. Riveira-Munoz E, Chang Q, Godefroid N, et al., for the Belgian Network for Study of Gitelman Syndrome. Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. J Am Soc Nephrol. 2007;18:1271–1283. 8.Graziani G, Fedeli C, Moroni L, Cosmai L, Badalamenti S, Ponticelli C. Gitelman syndrome: Pathophysiological and clinical aspects. QJM, 2010; 103(10): 741-8 9. Skalova S, Neuman D, Lnenicka P, Stekrova J. Gitelman syndrome as a cause of psychomotor retardation in a toddler. Arab J Nephrol Transplant, 2013; 6(1): 37-9. 10. De Jong JC, Van Der Vliet WA, Van Den Heuvel LP, Willems PH, Knoers NV, Bindels RJ. et al. Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman’s syndrome. J Am Soc Nephrol 2002 Jun;13(6):1442–8. 11. Peters M, Jeck N, Reinalter S, et al. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med. 2002;112:183–190. 12. Tammaro F, Bettinelli A, Cattarelli D, et al. Early appearance of hypokalemia in Gitelman syndrome. Pediatr Nephrol. 2010;25:2179–2182. 13. Devuyst O, Belge H, Konrad M, et al. Renal tubular disorders of electrolyte regulation in children. In: Avner ED, Harmon WE, Niaudet P, et al., eds. Pediatric Nephrology. 7th ed. New York, NY: Springer; 2016: 1201–1271. 14. M. Saeed, J. S. Bhandohal, P. Nepal, and S. Chaudhari, “Gitelman syndrome with a normal magnesium level,” Consultant, vol. 58, no. 6, p. 188, 2018. 15. Alwi I, Salim S, Hidayat R, Kurniawan J, Tahapary D. Panduan Praktis Klinis. Jakarta: Interna Publishing; 2019. 16. Torres VE, Young WF Jr., Offord KP, Hattery RR. Association of hypokalemia, aldosteronism, and renal cysts. N Engl J Med. 1990;322:345–351. 17. Urbanová M, Reiterová J, Stěkrová J, Lněnička P, Ryšavá R. DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening. Folia Biol (Praha) 2011; 57: 65-73 18. Al Shibli A, Narchi H. Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations. World J Methodol 2015; 5(2): 55-61 19. Brochard K, Boyer O, Blanchard A, Loirat C, Niaudet P, Macher MA, Deschenes G, Bensman A, Decramer S, Cochat P, Morin D, Broux F, Caillez M, Guyot C, Novo R, Jeunemaître X, Vargas- Poussou R. Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. Nephrol Dial Transplant 2009; 24: 1455-1464. 20. Shahzad, M. A., Mukhtar, M., Ahmed, A., Ullah, W., Saeed, R., & Hamid, M. (2019). Gitelman Syndrome: A Rare Cause of Seizure Disorder and a Systematic Review. Case reports in medicine, 2019, 4204907. https://doi.org/10.1155/2019/4204907 21.F. P. McCarthy, C. N. Magee, W. D. Plant, and L. C. Kenny, “Gitelman’s syndrome in pregnancy: case report and review of the literature,” Nephrology Dialysis Transplantation, vol. 25, no. 4, pp. 1338–1340, 2010. 22. Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D. Bartter’s and Gitelman’s syndromes: from gene to clinic. Nephron Physiol 2004; 96: p65-p78

DOI: https://doi.org/10.13057/smj.v5i2.61735

Refbacks

  • There are currently no refbacks.