Absence of amiloride-sensitive sodium absorption in the airway of an infant with pseudohypoaldosteronism.
We report the measurement of transepithelial voltage across the nasal epithelium in a neonate with pseudohypoaldosteronism (PHA) type 1. A 5-day-old infant was seen with hyponatremia, hyperkalemia, and elevated plasma renin and aldosterone levels. Sweat Cl(-) concentration was also increased. Measurements of voltage showed a basal value of zero and the absence of an amiloride-sensitive voltage. However, voltage changed as expected for normal cyclic adenosine monophosphate-stimulated Cl(-) transport. These data demonstrate the absence of amiloride-sensitive Na(+) transport across airway epithelia in a neonate with PHA. The findings suggest that measurements of voltage could be of value in the diagnosis of PHA.
Prince
L S
LS
Department of Pediatrics, Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA.
Launspach
J L
JL
Geller
D S
DS
Lifton
R P
RP
Pratt
J H
JH
Zabner
J
J
Welsh
M J
MJ
D000042:Absorption; D000584:Amiloride; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008564:Membrane Potentials / Q000502:physiology; D009297:Nasal Mucosa / Q000503:physiopathology*; D011546:Pseudohypoaldosteronism / Q000378:metabolism*; D012083:Renin / Q000097:blood; D015222:Sodium Channels / Q000378:metabolism*
D015222:Sodium Channels; D000584:Amiloride; D012083:Renin