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NEUROLOGY 2006;67:1080-1082
© 2006 American Academy of Neurology
Brief Communications

Hypokalemic paralysis due to Gitelman syndrome: A family study

H. -Y. Ng, MD, S. -H. Lin, MD, C. -Y. Hsu, MD, PhD, Y. -Z. Tsai, MD, H. -C. Chen, MD, PhD and C. -T. Lee, MD

From Division of Nephrology (H.-Y.N., Y.-Z.T., C.-T.L.), Department of Medicine, Chang-Gung Memorial Hospital, Kaohsiung, Taiwan; Division of Nephrology (S.-H.L.), Department of Medicine, Tri-Service General Hospital, Taipei, Taiwan; Department of Neurology (C.-Y.H.), Graduate Institute of Medicine (H.-C.C., C.-T.L.), Kaohsiung Medical University, Kaohsiung, Taiwan.

Address correspondence and reprint requests to Dr. Chien-Te Lee, Division of Nephrology, Department of Internal Medicine, Chang-Gung Memorial Hospital, Kaohsiung, 123, Ta-Pei Road, Niao-Sung Hsiang, Kaohsiung Hsien 833, Taiwan; e-mail: ctlee33{at}adm.cgmh.org.tw.

Hypokalemic paralysis is rarely seen as the presenting feature in patients with Gitelman syndrome. We report a Chinese man who presented with periodic paralysis, in whom molecular analysis revealed compound heterozygous inheritance of three mutations of the thiazide-sensitive sodium chloride cotransporter. Family history revealed intrafamilial variation in phenotypes. Gitelman syndrome should be considered as a cause of hypokalemic paralysis, and molecular analysis may help establish the diagnosis.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the September 26 issue to find the title link for this article.

Disclosure: The authors report no conflicts of interest.

Received October 18, 2005. Accepted in final form May 10, 2006.




This article has been cited by other articles:


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 Nephrol Dial TransplantHome page
Y.-J. Hsu, S.-S. Yang, N.-F. Chu, H.-K. Sytwu, C.-J. Cheng, and S.-H. Lin
Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure
Nephrol. Dial. Transplant., April 1, 2009; 24(4): 1170 - 1175.
[Abstract] [Full Text] [PDF]


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