Clinical Nephrology – Epidemiology – Clinical Trials
Kidney International (2001) 59, 710–717; doi:10.1046/j.1523-1755.2001.059002710.x
Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life
Dinna N Cruz, Andrea J Shaer, Margaret J Bia, Richard P Lifton and David B Simon for the Yale Gitelman's and Bartter's Syndrome Collaborative Study Group
Yale University School of Medicine, New Haven, Connecticut, and the Medical University of South Carolina, Charleston, South Carolina, USA
Correspondence: Dinna N. Cruz, M.D., Section of Nephrology, Department of Medicine, Yale University School of Medicine, 333 Cedar Street 2071 LMP, New Haven, Connecticut 06520-8029, USA. E-mail: dinna.cruz@yale.edu
Received 22 December 1999; Revised 31 August 2000; Accepted 5 September 2000.
Abstract
Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life.
Background
Gitelman's syndrome (GS), also called Gitelman's variant of Bartter's syndrome, is an autosomal recessive renal disorder characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. GS is caused by inactivating mutations in the thiazide-sensitive sodium chloride cotransporter gene (NCCT). It is also known as the "milder" form of Bartter's syndrome, as patients with GS are usually diagnosed in adulthood during routine investigation. Symptoms reported in the literature range from asymptomatic, to mild symptoms of cramps and fatigue, to severe manifestations such as tetany, paralysis, and rhabdomyolysis. This is the first systematic evaluation of a large group of patients with genetically defined GS.
Methods
We evaluated the symptoms and quality of life (QOL) in 50 adult GS patients with confirmed mutations in NCCT, using a standardized questionnaire. This cohort was compared with 25 age- and sex-matched controls.
Results
GS patients were significantly more symptomatic than controls. The most common symptoms were salt craving, with musculoskeletal symptoms such as cramps, muscle weakness, and aches and constitutional symptoms such as fatigue, generalized weakness and dizziness, and nocturia and polydipsia. Forty-five percent of GS patients consider their symptoms a moderate to big problem. Measures of health-related QOL were significantly lower in GS patients compared with controls, particularly in terms of role limitations caused by physical health, emotion, level of energy, and general health perception.
Conclusions
This descriptive study indicates that GS is not an asymptomatic disease and adversely affects QOL in these patients. Further studies are needed to assess the impact of therapy on symptoms and QOL.
Keywords:
Bartter's syndrome, hypokalemia, potassium, magnesium, sodium-chloride cotransporter, genetically confirmed Gitelman's syndrome
