CASE STUDIES OF SIBLINGS WITH JUXTAGLOMERULAR HYPERPLASIA AND SECONDARY ALDOSTERONISM ASSOCIATED WITH SEVERE AZOTEMIA AND RENAL RICKETS—BARTTER'S SYNDROME OR DISEASE?

Abstract

In 1962 two cases of juxtaglomerular (J-G) hyperplasia and secondary aldosteronism without hypertension with otherwise near normal renal function were presented. We have followed, since birth, two male siblings (F.T., age 6; J.T., age 3), with many features of "Bartter's syndrome," but who progressed to severe renal failure (F.T. and J.T.) and in one child (F.T.) overt renal rickets. Metabolic alkalosis, high levels of plasma renin activity (PRA) not suppressed by Na loading were found, but renal biopsy (J.T.) and autopsy (F.T.) revealed a severe glomerular and interstitial nephritis with mild J-G hyperplasia (not the typical "invasive" J-G cell hyperplasia seen in Bartter's cases). Balance studies demonstrated renal sodium wasting in both J.T. and F.T. PRA and aldosterone excretion rates were inappropriately high for sodium intake. Severe bone disease present in F.T. was associated with an increase in the total hydroxyproline (HP): Cr ratio to 1.77 (N = .13). Free HP excretion was increased in J.T. in whom bones appeared normal. It is suggested that either the typical cases with "invasive" J-G hyperplasia and near normal renal function represent a distinct entity (?Bartter's disease) or that "Bartter's syndrome" must be extended to include uremia and renal osteodystrophy.