Understanding Bartter syndrome and Gitelman syndrome.

Document Type

Article

Publication Date

2-1-2012

Institution/Department

Pediatrics; Nephrology & Transplantation

Journal Title

World J Pediatr

MeSH Headings

Alkalosis, Bartter Syndrome, Constipation, Diagnosis, Differential, Dizziness, Fatigue, Gitelman Syndrome, Humans, Hypokalemia, Muscle Cramp, Mutation, Potassium, Sodium

Abstract

BACKGROUND: We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome.

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 symptoms, 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 life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

ISSN

1867-0687

First Page

25

Last Page

30

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