THE ENIGMA OF PSEUDOHYPOALDOSTERONISM

The syndrome of primary pseudohypoaldosteronism (PHA) is a hereditary disease characterized by increased aldosterone secretion associated wi th clinical signs of hypoaldosteronism. These include salt wasting and failure to thrice in the newborn, high urinary sodium, hyponatremia, hyperkalemia, and metabolic acidosis. Plasma renin activity is usually elevated in association with aldosterone. The clinical manifestation of the disease is variable, including severely affected patients who m ay die in infancy and patients who are asymptomatic. The disease seems to result from a cellular resistance to mineralocorticoid action, whi ch could be either generalized, or restricted to the kidney. The condi tion is inherited as an autosomal dominant or an autosomal recessive t rait; however, sporadic cases have been described. In this paper we re port a 20-year follow-up study of a French family affected by PHA and we discuss the pathogenesis of the disease.