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Bartter syndrome: an overview.

I Amirlak·K P Dawson
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Abstract

The term Bartter syndrome denotes a group of renal diseases which share a common denominator of hypokalaemia and metabolic alkalosis. The patch-clamp technique has made possible the analysis of single ion channels, improving our understanding of the molecular physiopathology of all the 'Bartter-like' syndromes. Genetic mapping of each defect has further clarified the mutations involved and the possible modes of inheritance. This improved understanding has opened new avenues for therapy, improving mortality and morbidity in these patients. Another group of illnesses, the 'pseudo-Bartter syndrome', may produce a hypokalaemic metabolic alkalosis without primary renal disease. The underlying illness needs to be identified and treated.

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Bartter SyndromeChloridesChromosomes, Human, Pair 15Cyclooxygenase InhibitorsFemaleGenes, RecessiveHumansKidney Tubules, DistalLoop of HenleMagnesiumMagnesium ChlorideMutationPhenotypePotassium ChannelsPotassium ChlorideRenin-Angiotensin SystemSodium-Potassium-Exchanging ATPaseJournal ArticleReview

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I Amirlak, K P Dawson. 2000. Bartter syndrome: an overview.. https://doi.org/10.1093/qjmed%2F93.4.207

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Bartter Syndrome↗
PubMed2006

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.

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