Hypokalemic paralysis due to Gitelman syndrome: a family study.
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.
Ng
H-Y
HY
Division of Nephrology, Department of Medicine, Chang-Gung Memorial Hospital, Kaohsiung, Taiwan.
Lin
S-H
SH
Hsu
C-Y
CY
Tsai
Y-Z
YZ
Chen
H-C
HC
Lee
C-T
CT
D000328:Adult; D005091:Exons; D005192:Family Health; D005260:Female; D006801:Humans; D007008:Hypokalemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D020514:Hypokalemic Periodic Paralysis / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D007674:Kidney Diseases / Q000150:complications* / Q000235:genetics; D008297:Male; D009154:Mutation; D028021:Sodium-Potassium-Chloride Symporters / Q000235:genetics; D064466:Solute Carrier Family 12, Member 1; D013577:Syndrome
C578714:SLC12A1 protein, human; D028021:Sodium-Potassium-Chloride Symporters; D064466:Solute Carrier Family 12, Member 1