Bartter syndrome. Typical facies and normal plasma volume
T. James, N. H. Holland and D. Preston
Two girls with hypokalemic and hypochloremic metabolic alkalosis and
failure to thrive were found to have Bartter syndrome at ages 9 and 6
months. Both had normal blood pressures despite substantial elevation of
plasma renin activity and evidence of secondary hyperaldosteronism. A
similarity in facial features, including prominent forhead, a large head,
triangular facies with drooping mouth, and large eyes and pinnae, was noted
in these two infants and in published pictures of other infants with the
syndrome. Although the normotension associated with substanital elevation
of plasma renin activity and hyperaldosteronism in Bartter syndrome has
been considered the effect of hypovolemia, a normal or slightly elevated
plasma volume was found in these infants, suggesting that in certain cases
an alternate mechanism for the depressed response to renin may be present.
