Bartter syndrome: an overview.
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.
Amirlak
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Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates. iradj.amirlak@uaeu.ac.ae
Dawson
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KP
D001477:Bartter Syndrome / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D002712:Chlorides / Q000502:physiology; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D016861:Cyclooxygenase Inhibitors / Q000627:therapeutic use; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007686:Kidney Tubules, Distal / Q000503:physiopathology; D008138:Loop of Henle / Q000503:physiopathology; D008274:Magnesium / Q000502:physiology; D015636:Magnesium Chloride / Q000627:therapeutic use; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D015221:Potassium Channels / Q000502:physiology; D011189:Potassium Chloride / Q000627:therapeutic use; D012084:Renin-Angiotensin System / Q000502:physiology; D000254:Sodium-Potassium-Exchanging ATPase / Q000502:physiology
D002712:Chlorides; D016861:Cyclooxygenase Inhibitors; D015221:Potassium Channels; D015636:Magnesium Chloride; D011189:Potassium Chloride; D000254:Sodium-Potassium-Exchanging ATPase; D008274:Magnesium