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Pure Gitelman-like syndrome secondary to SLC26A4 (pendrin) mutation.
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Biogem Institute of Molecular Biology and Genetics, Ariano Irpino, Italy; Department of Translational Medical Sciences, University of Campania "L. Vanvitelli," Naples, Italy.
Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.
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Department of Pediatrics and Adolescent Medicine, Philipps University, Marburg, Germany.
Salt-losing tubulopathies with secondary hyperaldosteronism (SLT) comprise a set of well-defined inherited tubular disorders. Two segments along the distal nephron are primarily involved in the pathogenesis of SLTs: the thick ascending limb of Henle's loop, and the distal convoluted tubule (DCT). The functions of these pre- and postmacula densa segments are quite distinct, and this has a major impact on the clinical presentation of loop and DCT disorders - the Bartter- and Gitelman-like syndromes.
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