title: Absence of amiloride-sensitive sodium absorption in the airway of an infant with pseudohypoaldosteronism.
abstract: 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.
authors.affiliation: Department of Pediatrics, Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA.
authors.forename: L S
authors.initials: LS
authors.lastname: Prince
authors.forename: J L
authors.initials: JL
authors.lastname: Launspach
authors.forename: D S
authors.initials: DS
authors.lastname: Geller
authors.forename: R P
authors.initials: RP
authors.lastname: Lifton
authors.forename: J H
authors.initials: JH
authors.lastname: Pratt
authors.forename: J
authors.initials: J
authors.lastname: Zabner
authors.forename: M J
authors.initials: MJ
authors.lastname: Welsh
mesh_terms: 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*
chemical_list: D015222:Sodium Channels; D000584:Amiloride; D012083:Renin