DOI QR코드

DOI QR Code

Rheumatoid arthritis accompanied by Gitelman syndrome

류마티스관절염 환자에 동반된 Gitelman 증후군

  • Park, Min Gi (Division of Rheumatology, Department of Internal Medicine, Maryknoll Medical Center) ;
  • Lee, Ji Hyun (Division of Rheumatology, Department of Internal Medicine, Maryknoll Medical Center) ;
  • Kim, Sung Jun (Division of Rheumatology, Department of Internal Medicine, Maryknoll Medical Center) ;
  • Park, Su Ho (Division of Rheumatology, Department of Internal Medicine, Maryknoll Medical Center) ;
  • Park, Suk Ki (Division of Rheumatology, Department of Internal Medicine, Maryknoll Medical Center) ;
  • Choi, Joon Sul (Division of Rheumatology, Department of Internal Medicine, Maryknoll Medical Center) ;
  • Hwang, Ji Yeon (Division of Rheumatology, Department of Internal Medicine, Maryknoll Medical Center)
  • 박민기 (메리놀병원 류마티스 내과) ;
  • 이지현 (메리놀병원 류마티스 내과) ;
  • 김성준 (메리놀병원 류마티스 내과) ;
  • 박수호 (메리놀병원 류마티스 내과) ;
  • 박석기 (메리놀병원 류마티스 내과) ;
  • 최준설 (메리놀병원 류마티스 내과) ;
  • 황지연 (메리놀병원 류마티스 내과)
  • Received : 2016.03.04
  • Accepted : 2016.06.02
  • Published : 2017.06.30

Abstract

Gitelman syndrome is a condition caused by a mutation of the thiazide sensitive Na-Cl cotransporter gene on the distal convoluted tubule. It results in a variety of clinical features, including hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. It is often diagnosed in asymptomatic adults presented with unexplained hypokalemia; however, it is sometimes associated with muscular cramps, numbness, fatigue, weakness, or paralysis. We experienced a case of rheumatoid arthritis accompanied by Gitelman syndrome, presented with hand tremor. We diagnosed her using renal clearance study and genetic analysis. Here, we report our experiences regarding this case along with a literature review.

Keywords

References

  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. Nat Genet 1996; 12:24-30. https://doi.org/10.1038/ng0196-24
  2. Al Shibli A, Narchi H. Bartter and Gitelman syndromes: spectrum of clinical manifestations caused by different mutations. World J Methodol 2015;5:55-61. https://doi.org/10.5662/wjm.v5.i2.55
  3. Riancho JA, Saro G, Sanudo C, Izquierdo MJ, Zarrabeitia MT. Gitelman syndrome: genetic and expression analysis of the thiazide-sensitive sodium-chloride transporter in blood cells. Nephrol Dial Transplant 2006;21:217-20. https://doi.org/10.1093/ndt/gfi093
  4. Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira- Munoz E, Debaix H, et al. Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrol 2011;22:693-703. https://doi.org/10.1681/ASN.2010090907
  5. Gupta R, Hu V, Reynolds T, Harrison R. Sclerochoroidal calcification associated with Gitelman syndrome and calcium pyrophosphate dihydrate deposition. J Clin Pathol 2005;58:1334-5. https://doi.org/10.1136/jcp.2005.027300
  6. Kurtz I. Molecular pathogenesis of Bartter’s and Gitelman’s syndromes. Kidney Int 1998;54:1396-410. https://doi.org/10.1046/j.1523-1755.1998.00124.x
  7. Bettinelli A, Consonni D, Bianchetti MG, Colussi G, Casari G. Aldosterone influences serum magnesium in Gitelman syndrome. Nephron 2000;86:236. https://doi.org/10.1159/000045767
  8. Yeum CH, Kim SW, Ma SK, Ko JH, Nah MY, Kim NH, et al. Attenuated renal excretion in response to thiazide diuretics in Gitelman’s syndrome: a case report. J Korean Med Sci 2002;17:567-70. https://doi.org/10.3346/jkms.2002.17.4.567
  9. Zelikovic I, Szargel R, Hawash A, Labay V, Hatib I, Cohen N, et al. A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Kidney Int 2003;63:24-32. https://doi.org/10.1046/j.1523-1755.2003.00730.x
  10. Kim YK, Song HC, Kim YS, Choi EJ. Acquired gitelman syndrome. Electrolyte Blood Press 2009;7:5-8. https://doi.org/10.5049/EBP.2009.7.1.5
  11. Icardi A, Araghi P, Ciabattoni M, Romano U, Lazzarini P, Bianchi G. Kidney involvement in rheumatoid arthritis. Reumatismo 2003;55:76-85.