A REPORT OF FOUR CASES, INCLUDING THREE IN ONE SIBSHIP, WITH COMPARATIVE HISTOLOGIC EVALUATION OF THE JUXTAGLOMERULAR APPARATUSES AND GLOMERULI

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Abstract
Summary and Conclusions: An electrolyte‐losing syndrome is described in three siblings, including one set of twins, and in an unrelated infant who was the product of incest. In most respects the clinical and laboratory findings in these patients were compatible with the condition which has come to be known as Bartter's syndrome. In all four of our patients, however, symptoms were manifested early in life, the disease ran a malignant course and death occurred early. Electron microscopic examination of the kidneys from two of our patients showed characteristic structural changes in the glomeruli including immaturity of the podocytes and extensive loss or fusion of their foot processes. Light microscopy of the kidneys from all four cases showed an unusually large proportion of immature glomeruli that seemed to diminish slowly with age. Some ninety per cent of these small glomeruli were located peripherally. The incidence and size of hypertrophied JGA, also the degree and extent of hyperplastic arterial thickening, appeared to increase with age. These findings are discussed in relation to the hypothesis that the basic abnormality in Bartter's syndrome may involve a defect of sodium reabsorption in the proximal tubule, and that this leads to hypertrophy of the JGAs of functioning nephrons with excessive production and release of renin, which causes vasoconstrictive dormancy of the more peripheral glomeruli.