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 Bar tter'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 asymp tomatic, to mild symptoms of cramps and fatigue, to severe manifestations s uch 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 questionna ire. 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. F orty-five percent of GS patients consider their symptoms a moderate to big problem. Measures of health-related QOL were significantly lower in GS pati ents compared with controls, particularly in terms of role limitations caus ed by physical health. emotion. level of energy, and general health percept ion. Conclusions. This descriptive study indicates that GS is not an asymptomati c disease and adversely affects QOL in these patients. Further studies are needed to assess the impact of therapy on symptoms and QOL.