Threading through the mizmaze of Bartter syndrome.
The story, described here in detail, started in 1962 with the publication of a seminal paper by Frederic Bartter et al. in the December issue of the American Journal of Medicine. The authors reported two pediatric patients with hitherto undescribed features, namely growth and developmental delay associated with hypokalemic alkalosis and normal blood pressure despite high aldosterone production. It soon became clear that this condition was not so exceptional. The syndrome named after Bartter was actually identified in children as well as in adults, females as well as males and in all five continents. It took almost four decades to clarify the exact nature of the disease. Bartter disease is an autosomal recessive disorder with four genotypes and mainly two phenotypes. Moreover, there are acquired secondary forms of Bartter syndrome as well as pseudo-Bartter syndromes. The history demonstrates the power of genetics but also illustrates the fundamental and irreplaceable contributions from nephrologists and renal physiologists.
Proesmans
Willem
W
Pediatric Nephrology, University of Leuven, 3000, Leuven, Belgium. Willem.Proesmans@med.kuleuven.ac.be
D001477:Bartter Syndrome / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D049992:Sodium Chloride Symporters / Q000235:genetics
D049992:Sodium Chloride Symporters