Various pathophysiological explanations for Bartter's syndrome have been put forward since the condition was first described in 19621. It is currently thought that reduced reabsorbtion of sodium chloride in the distal tubule of the loop of Henle and the collecting ducts leads to secondary hyperkaluria and hypokalaemic metabolic alkalosis2. We describe a 9½-year-old boy with Bartter's syndrome and severe retinopathy whose features may be those of a previously unrecognized disorder.
BartterFCPronorePGillJRMacDordlRC. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: A new syndrome. Am J Med;33: 811–28
2.
GarrickRZiyadehFMJoraskyDGoldfarbS.A unifying hypothesis. Am J Nephrol1985; 5: 379
3.
GotoYItamiNKaijiNTochimaruHEndoMHraiS.Renal tubular involvement mimicking Bartter's syndrome in a patient with Kerans-Sayre syndrome. J Pediatr1990; 116: 903–10
4.
SteinJH. The pathogenic spectrum of Bartter's syndrome. Kidney Int1985; 28: 85–93
5.
UchiyamaWShahVWillemsC DamanDillonMJ. Erythocyte sodium transport in Bartter's syndrome. Acta Paediatr Scand1988; 77: 873–78
6.
WhiteCPWaldronMJanJECarterJE. Occulocerebral hypopigmentation syndrome associated with Bartter's syndrome. Am J Med Genet1993; 64: 592–96
