[Familial pseudohypoaldosteronism (apropos of 5 cases)]

Abstract

The first clinical and scientifically confirmed description of familial pseudohypoaldosteronism is reported in 5 patients, one of whom is an adult. The rarity of the disorder may be over-estimated. The 5 patients described had anextreme liking for salt which they had consumed in large amounts and tolerated without any side effects, regardless of the quantity and the period of time involved. The results of sodium balance and othr studies carried out several months are reported. Several investigations are normal (effect of spironolactone, DOCA) supporting the evidence to data against a decreased sensitivity of the distal renal tubule to aldosterone and presenting new evidence in favour of impaired proximal tubular resbsorption of sodium; persistent hypercalcuria occurred and histological changes were maximal in the proximal tubule. The 5 patients described despite apparent clinical well-being all had biological hypoaldosteronism, and some of them a chronic salt losing state without detectable renal impairment. These findings suggest that the long-term evolution of the disease has to be reconsidered.