Fol. Biol. 2011, 57, 65-73
DNA Analysis of Renal Electrolyte Transporter Genes Among Patients Suffering from Bartter and Gitelman Syndromes – Summary of Mutation Screening
Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic screening for possible mutation capture in two different genes: SLC12A3 and CLCNKB. Clinical symptoms of these two diseases may overlap. Patients with clinical symptoms of antenatal form of Bartter syndrome were screened for mutations in two different genes: KCNJ1 and SLC12A1. The aim was to establish genetic mutation screening of Bartter/Gitelman syndrome and to confirm the proposed diagnosis. We have identified seven different causative mutations in the SLC12A3 gene, four in the CLCNKB gene, two in the SLC12A1 gene, and none in the KCNJ1 gene. Nine of these mutations are novel. In one case, genetic analysis led to re-evaluation of diagnosis between the Gitelman and classic form of Bartter syndrome.
Keywords
SLC12A1, ClCNKB, KCNJ1, SLC12A3, hypokalaemic metabolic alkalosis, Bartter syndrome, Gitelman syndrome.
Funding
Supported by project of the Ministry of Education, Youth and Sports of the Czech Republic MSM 0021620806.
References
Copyright
This is an open-access article distributed under the terms of the Creative Commons Attribution License.
