Understanding Bartter syndrome and Gitelman syndrome
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Understanding Bartter syndrome and Gitelman syndrome Oliver T. Fremont, James C.M. Chan Portland, Maine, USA
Data sources: Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. Results: The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Conclusions: Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with sypmtoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become lifethreatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients. World J Pediatr 2012;8(1):25-30 Key words: Bartter syndrome; blood pressure control; Gitelman syndrome; NCCT; NKCC2; potassium; sodium
Author Affiliations: Tufts University School of Medicine; The Barbara Bush Children's Hospital, Maine Medical Center, Portland, Maine, USA (Fremont OT, Chan JCM) Corresponding Author: James C. M. Chan, M.D., Professor of Pediatrics, Tufts University School of Medicine; Director of Research, The Barbara Bush Children's Hospital, Maine Medical Center, 22 Bramhall Street, Portland, Maine 04102-3175, USA (Tel: 207-662-2439; Fax: 207-662-6272; Email: [email protected]) doi: 10.1007/s12519-012-0333-9 ©Children's Hospital, Zhejiang University School of Medicine, China and Springer-Verlag Berlin Heidelberg 2012. All rights reserved.
Introduction
B
artter syndrome[1,2] and Gitelman syndrome,[3] both result from congenital defects in renal tubular handling of sodium, potassium and chloride.[4,5] We shall highlight the clinical characteristics of each condition[5,6] and comment on the molecular defects [7-10] before discussing diagnostic tests. [11-13] Finally we shall review the impact and limitations of treatment.[14,15] Key references concerning Bartter syndrome and Gitelman syndrome were evaluated in concert with a PubMed literature search from 2001 to 2011. The most current and relevant information from the literature pertaining to these two syndromes were reviewed.
Clinical characteristics common to both syndromes
Patients with Bartter syndrome and Gitelman syndrome present with complaints of constipation, muscle cramps and weakness, secondary to chronic hypokalemia.[16,17] Patients with either syndrome may also present with non-specific dizziness and fatigue. The biochemical features of both syndromes include hypokalemic, hypochloremic metabolic alkalosis associated with high plasma renin activity and high aldosterone concentration.[16-18] Alt
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