Reduced Na+, K(+)-ATPase activity in patients with pseudohypoaldosteronism

Pediatr Res. 1994 Mar;35(3):372-5. doi: 10.1203/00006450-199403000-00021.

Abstract

Pseudohypoaldosteronism is a hereditary salt-wasting syndrome usually seen in infancy with weight loss, dehydration, and failure to thrive. The pathophysiologic origin of pseudohypoaldosteronism is unknown. The defect could be related to the unresponsiveness of target organs to mineralocorticoids resulting in hyponatremia, hyperkalemia, and markedly elevated plasma aldosterone and renin levels. Red blood cell Na+, K(+)-ATPase activity was measured in a pair of twins with pseudohypoaldosteronism, in an unrelated child with hypoaldosteronism, and in an age-matched group of 50 healthy infants and young children. The enzyme was assayed by a method that couples ATP hydrolysis with NADH oxidation. Plasma renin and aldosterone levels were measured by RIA. Red blood cell Na+, K(+)-ATPase activity in the twins with pseudohypoaldosteronism was very low at the time of diagnosis (3 wk). In both twins a time-related gradual increase in enzyme activity was observed during the 1st mo of life, reaching control values between 6 and 8 mo of age. This increase was associated with both a reduction in salt requirement and clinical improvement. Plasma renin activity and aldosterone levels were very high at the time of diagnosis. Plasma renin activity reverted gradually to normal values, whereas aldosterone levels remained high throughout the follow-up period. The child with hypoaldosteronism had normal Na+, K(+)-ATPase activity at diagnosis and during follow-up.

Publication types

  • Case Reports

MeSH terms

  • Aldosterone / blood
  • Diseases in Twins
  • Erythrocytes / enzymology
  • Female
  • Humans
  • Hypoaldosteronism / enzymology
  • Infant
  • Infant, Newborn
  • Male
  • Pseudohypoaldosteronism / blood
  • Pseudohypoaldosteronism / diet therapy
  • Pseudohypoaldosteronism / enzymology*
  • Renin / blood
  • Sodium, Dietary / administration & dosage
  • Sodium-Potassium-Exchanging ATPase / blood
  • Sodium-Potassium-Exchanging ATPase / deficiency*
  • Twins, Dizygotic

Substances

  • Sodium, Dietary
  • Aldosterone
  • Renin
  • Sodium-Potassium-Exchanging ATPase