Absence of amiloride-sensitive sodium absorption in the airway of an infant with pseudohypoaldosteronism

J Pediatr. 1999 Dec;135(6):786-9. doi: 10.1016/s0022-3476(99)70105-8.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Absorption
  • Amiloride
  • Humans
  • Infant, Newborn
  • Male
  • Membrane Potentials / physiology
  • Nasal Mucosa / physiopathology*
  • Pseudohypoaldosteronism / metabolism*
  • Renin / blood
  • Sodium Channels / metabolism*


  • Sodium Channels
  • Amiloride
  • Renin