Abstract
Bartter's Syndrome (BS) was diagnosed in two female infants presenting with failure to thrive, hypokalemic, hypochloremic alkalosis, hyper-renism and secondary hyperaldosteronism without associated edema or hypertension. A lack of response to angiotensin II infusion was demonstrated in one infant. Similarity of facial characteristics in the two infants was recognized: large head relative to the body, triangular facies with protruding pinnae, large eyes, a “pouting” expression with drooping mouth possibly related to potassium depletion. Reference to the literature showed a resemblence to the other infants with BS.
The association in these infants of normotension, increased plasma renin and hyperaldosteronism has been explained on hypovolemia secondary to a renal tubular defect in sodium reabsorption. Plasma volume was measured in the two infants with BS and in two control infants by the dilution method using radioiodinated human serum albumin. Plasma volume in both BS infants was normal or even increased compared to predicted values relative to weight. Control infants had plasma volumes equal to or less than the predicted volume. These measurements suggest that hypovolemia may not be present in all cases of BS and that an alternate mechanism such as impaired vascular responsiveness to angiotensin may be operant.
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James, T., Holland, N. & Preston, D. TYPICAL FACIES AND NORMOVOLEMIA IN BARTTER'S SYNDROME. Pediatr Res 8, 370 (1974). https://doi.org/10.1203/00006450-197404000-00178
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DOI: https://doi.org/10.1203/00006450-197404000-00178