Case Report

Rare presentation of Gitelman syndrome: a case report and literature review

Rare presentation of Gitelman syndrome


Gitelman Syndrome (GS), also known as familial hypokalemia-hypomagnesemia, is a rare genetic disorder. GS presents with a specific defect in kidney function, that leads to hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Here, we present a 30-year-old woman without a medical history. She experienced an episode of tonic-clonic seizure, generalized muscle weakness, and severe hyponatremia as the first presentation of GS. The interesting point of this case was her late-onset presentation and the long period of her disease diagnosis; thus, it highlights the importance of considering this diagnosis.

[1] Cruz DN, Shaer AJ, Bia MJ, Lifon RP, Simon DB, Yale Gitelman's and Barter's Syndrome Collaboratve Study Group. Gitelman's syndrome revisited: An evaluaton of symptoms and healthrelated quality of life. Kidney Internatonal. 2001; 59(2):710-7. [DOI:10.1046/j.1523-1755.2001.059002710.x] [PMID]
[2] Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet Journal of Rare Diseases. 2008; 3:22. [DOI:10.1186/1750 1172-3-22] [PMID] [PMCID]
[3] Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O, et al. Gitelman syndrome: Ionsensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Internatonal. 2017; 91(1):24-33. [DOI:10.1016/j.kint.2016.09.046.] [PMID]
[4] Matsunoshita N, Nozu K, Shono A, Nozu Y, Fu XJ, Morisada N, et al. Differental diagnosis of Barter syndrome, Gitelman syndrome, and pseudo-Barter/Gitelman syndrome based on clinical characteristcs. Genetcs in Medicine. 2015; 18(2):180-8. [DOI:10.1038/ gim.2015.56] [PMID]
[5] Fujimura J, Nozu K, Yamamura T, Minamikawa S, Nakanishi K, Horinouchi T, et al. Clinical and genetc characteristcs in patents with Gitelman Syndrome. Kidney Internatonal Reports. 2018; 4(1):119-25. [DOI:10.1016/j.ekir.2018.09.015] [PMID] [PMCID]
[6] Cornejo K, Patel P, Bal S, Valenza P. Gitelman syndrome: A case report of hypokalemic seizures in an adolescent male. Internatonal Journal of Academic Medicine. 2017; 3(2):291-4. [DOI:10.4103/ IJAM.IJAM_39_17]
[7] Oba T, Kobayashi S, Nakamura Y, Nagao M, Nozu K, Fukuda I, et al. A case of Gitelman’s Syndrome that was difcult to distnguish from hypokalemic periodic paralysis due to Graves’ Disease. Journal of Nippon Medical School. 2019; 86(5):301-6. [DOI:10.1272/jnms. JNMS.2019_86-505] [PMID]
[8] Elkoundi A, Kartte N, Bensghir M, Doghmi N, Lalaoui SJ. Gitelman Syndrome: A rare life-threatening case of hypokalemic paralysis mimicking Guillain-Barre syndrome during pregnancy and review of the literature. Clinical Case Reports. 2017; 5(10):1597-603. [DOI:10.1002/ccr3.1122] [PMID] [PMCID]
[9] Wang L, Dong C, Xi YG, Su X. Thiazide-sensitve Na+-Cl- cotransporter: Genetc polymorphisms and human diseases. Acta Biochimica et Biophysica Sinica. 2015; 47(5):325-34. [DOI:10.1093/ abbs/gmv020] [PMID]
[10] Koulouridis E, Koulouridis I. Molecular pathophysiology of Barter’s and Gitelman’s Syndromes. World Journal of Pediatrics. 2015; 11(2):113-25. [DOI:10.1007/s12519-015-0016-4] [PMID]
[11] Cruz DN, Shaer AJ, Bia MJ, Lifon RP, Simon DB. Gitelman’s Syndrome revisited: An evaluaton of symptoms and healthrelated quality of life. Kidney Internatonal. 2001; 59(2):710-7. [DOI:10.1046/j.1523-1755.2001.059002710.x] [PMID]
[12] Kumagai H, Matsumoto S, Nozu K. Hypokalemic rhabdomyolysis in a child with Gitelman’s syndrome. Pediatric Nephrology. 2010; 25(5):953-5. [DOI:10.1007/s00467-009-1412-6] [PMID]
[13] Shahzad MA, Mukhtar M, Ahmed A, Ullah W, Saeed R, Hamid M. Gitelman Syndrome: A rare cause of seizure disorder and a systematc review. Case Reports in Medicine. 2019; 2019:4204907. [DOI:10.1155/2019/4204907] [PMID] [PMCID]
[14] Türkyılmaz HN, Berksoy EA, Gürbüz G, Deveci R, Serdaroğlu E, Ünalp A. A rare cause of seizure: Gitelman Syndrome. Journal of Neuroscience and Neuropsychology. 2017; 1:105. [DOI:10.18875/2577-7890.1.105]
[15] von Vigier RO, Ortsi MT, La Manna A, Bianchet MG, Betnelli A. Hypokalemic rhabdomyolysis in congenital tubular disorders: A case series and a systematc review. Pediatric Nephrology. 2010; 25(5):861-6. [DOI:10.1007/s00467-009-1388-2] [PMID]
[16] Ng HY, Lin SH, Hsu CY, Tsai YZ, Chen HC, Lee CT. Hypokalemic paralysis due to Gitelman syndrome: A family study. Neurology. 2006; 67(6):1080-2. [DOI:10.1212/01.wnl.0000237527.27595.87] [PMID]
[17] Seow CJ, Young WF Jr. An overlooked cause of Hypokalemia. American Journal of Medicine. 2017; 130(10):e433-e5. [DOI:10.1016/j. amjmed.2017.06.005] [PMID]
[18] Blanchard A, Vargas-Poussou R, Vallet M, Caumont-Prim A, Allard J, Desport E, et al. Indomethacin, amiloride, or eplerenone for treating hypokalemia in Gitelman syndrome. Journal of the American Society of Nephrology: JASN. 2015; 26(2):468-75. [DOI:10.1681/ ASN.2014030293] [PMID] [PMCID]
IssueVol 6 No 1 (2021) QRcode
SectionCase Report(s)
Gitelman syndrome Hyponatremia

Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
Khajavirad N, Shakiba S, Abbaszadeh M, Karimpour Reyhan S. Rare presentation of Gitelman syndrome: a case report and literature review. CRCP. 2021;6(1):20-24.