Proximal Weakness and Hypokalemia in a Pregnant Woman: The First Presentation of Gitelman Syndrome
Abstract
Gitelman syndrome is an inherited disorder of kidney function characterized by hypokalemia, hypomagnesemia, and hypocalciuria. Its first presentation during pregnancy might be a challenging diagnostic and management issue, as there is little data available in the medical literature. Here we report a 26-year-old pregnant woman who was diagnosed with Gitelman syndrome for the first time during her second trimester of pregnancy. Refractory hypokalemia in the 18th week of pregnancy was treated with eplerenone. The pregnancy outcome was favorable both for the mother and neonate.
[1] Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, 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(1):24-30. [DOI:10.1038/ng0196-24] [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] Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB, Yale Gitelman’s and Bartter’s Syndrome Collaborative Study Group. Gitelman’s syndrome revisited: An evaluation of symptoms and healthrelated quality of life. Kidney International. 2001; 59(2):710-7. [DOI:10.1046/j.1523-1755.2001.059002710.x] [PMID]
[4] 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. 2015; 26(2):468-75. [DOI:10.1681/ ASN.2014030293] [PMID] [PMCID]
[5] Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O, et al. Gitelman syndrome: Consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International. 2017; 91(1):24-33. [DOI:10.1016/j.kint.2016.09.046] [PMID]
[6] U. S. Food and Drug Administration. Center for Drug Evaluation and Research. (2016). Retriezad from https://www.accessdata.fda.gov/ drugsatfda_docs/label/2016/021437s013lbl.pd
[7] Young WF Jr. Adrenal causes of hypertension: Pheochromocytoma and primary aldosteronism. Reviews in Endocrine & Metabolic Disorders. 2007; 8(4):309-20. [DOI:10.1007/s11154-007-9055-z] [PMID]
[8] Lin SH, Lin YF, Chen DT, Chu P, Hsu CW, Halperin ML. Laboratory tests to determine the cause of hypokalemia and paralysis. Archives of Internal Medicine. 2004; 164(14):1561-6. [DOI:10.1001/ archinte.164.14.1561] [PMID]
[9] Unwin RJ, Luft FC, Shirley DG. Pathophysiology and management of hypokalemia: A clinical perspective. Nature Reviews Nephrology. 2011; 7(2):75-84. [DOI:10.1038/nrneph.2010.175] [PMID]
[10] Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D. Bartter’s and Gitelman’s syndromes: From gene to clinic. Nephron Physiology. 2004; 96(3):p65-78. [DOI:10.1159/000076752] [PMID]
[11] Koulouridis E, Koulouridis I. Molecular pathophysiology of Bartter’s and Gitelman’s syndromes. World Journal of Pediatrics. 2015; 11(2):113-25. [DOI:10.1007/s12519-015-0016-4] [PMID]
[12] Talaulikar GS, Falk MC. Outcome of pregnancy in a patient with Gitelman syndrome: A case report. Nephron Physiology. 2005; 101(2):p35-8. [DOI:10.1159/000086418] [PMID]
[13] Cheung KL, Lafayette RA. Renal physiology of pregnancy. Advances in Chronic Kidney Disease. 2013; 20(3):209-14. [DOI:10.1053/j. ackd.2013.01.012] [PMID] [PMCID]
[14] Basu A, Dillon RD, Taylor R, Davison JM, Marshall SM. Is normalisation of serum potassium and magnesium always necessary in Gitelman Syndrome for a successful obstetric outcome? BJOG. 2004; 111(6):630-4. [DOI:10.1111/j.1471-0528.2004.00148.x] [PMID]
[15] Calò LA, Caielli P. Gitelman’s syndrome and pregnancy: New potential pathophysiological influencing factors, therapeutic approach and materno-fetal outcome. The Journal of Maternal-Fetal & Neonatal Medicine. 2012; 25(8):1511-3. [DOI:10.3109/14767058.2011 .629254] [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] Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB, Yale Gitelman’s and Bartter’s Syndrome Collaborative Study Group. Gitelman’s syndrome revisited: An evaluation of symptoms and healthrelated quality of life. Kidney International. 2001; 59(2):710-7. [DOI:10.1046/j.1523-1755.2001.059002710.x] [PMID]
[4] 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. 2015; 26(2):468-75. [DOI:10.1681/ ASN.2014030293] [PMID] [PMCID]
[5] Blanchard A, Bockenhauer D, Bolignano D, Calò LA, Cosyns E, Devuyst O, et al. Gitelman syndrome: Consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International. 2017; 91(1):24-33. [DOI:10.1016/j.kint.2016.09.046] [PMID]
[6] U. S. Food and Drug Administration. Center for Drug Evaluation and Research. (2016). Retriezad from https://www.accessdata.fda.gov/ drugsatfda_docs/label/2016/021437s013lbl.pd
[7] Young WF Jr. Adrenal causes of hypertension: Pheochromocytoma and primary aldosteronism. Reviews in Endocrine & Metabolic Disorders. 2007; 8(4):309-20. [DOI:10.1007/s11154-007-9055-z] [PMID]
[8] Lin SH, Lin YF, Chen DT, Chu P, Hsu CW, Halperin ML. Laboratory tests to determine the cause of hypokalemia and paralysis. Archives of Internal Medicine. 2004; 164(14):1561-6. [DOI:10.1001/ archinte.164.14.1561] [PMID]
[9] Unwin RJ, Luft FC, Shirley DG. Pathophysiology and management of hypokalemia: A clinical perspective. Nature Reviews Nephrology. 2011; 7(2):75-84. [DOI:10.1038/nrneph.2010.175] [PMID]
[10] Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D. Bartter’s and Gitelman’s syndromes: From gene to clinic. Nephron Physiology. 2004; 96(3):p65-78. [DOI:10.1159/000076752] [PMID]
[11] Koulouridis E, Koulouridis I. Molecular pathophysiology of Bartter’s and Gitelman’s syndromes. World Journal of Pediatrics. 2015; 11(2):113-25. [DOI:10.1007/s12519-015-0016-4] [PMID]
[12] Talaulikar GS, Falk MC. Outcome of pregnancy in a patient with Gitelman syndrome: A case report. Nephron Physiology. 2005; 101(2):p35-8. [DOI:10.1159/000086418] [PMID]
[13] Cheung KL, Lafayette RA. Renal physiology of pregnancy. Advances in Chronic Kidney Disease. 2013; 20(3):209-14. [DOI:10.1053/j. ackd.2013.01.012] [PMID] [PMCID]
[14] Basu A, Dillon RD, Taylor R, Davison JM, Marshall SM. Is normalisation of serum potassium and magnesium always necessary in Gitelman Syndrome for a successful obstetric outcome? BJOG. 2004; 111(6):630-4. [DOI:10.1111/j.1471-0528.2004.00148.x] [PMID]
[15] Calò LA, Caielli P. Gitelman’s syndrome and pregnancy: New potential pathophysiological influencing factors, therapeutic approach and materno-fetal outcome. The Journal of Maternal-Fetal & Neonatal Medicine. 2012; 25(8):1511-3. [DOI:10.3109/14767058.2011 .629254] [PMID]
| Files | ||
| Issue | Vol 5 No 1 (2020): Winter | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/crcp.v5i1.3612 | |
| Keywords | ||
| Gitelman syndrome Proximal weakness Hypokalemia | ||
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How to Cite
1.
Najafi MT, Mahdavi Sharif P, Alamdari A, Naderi N. Proximal Weakness and Hypokalemia in a Pregnant Woman: The First Presentation of Gitelman Syndrome. CRCP. 2020;5(1):30-34.
