[Pseudohypoaldosteronism: familial forms. Eight case-reports, with a review of the literature (author's transl)].
Pseudohypoaldosteronism (PHA) is an uncommon cause of the renal salt loosing syndrome in infancy. The authors describe eight cases in two different families. Hyperaldosteronism persists long after clinical recovery has occurred. Plasma hormone assay allows retrospective recognition of cases overlooked during infancy. This underlines the variability of disease expression among different members of the same family. The high family occurrence rate (over 50%), which is often underestimated, is demonstrated by the study of both families and by a review of published cases. Clinical and biochemical features of familial PHA are discussed. Inheritance is usually on an autosomal dominant basis. However, the small number of reported cases cannot allow any attempt to individualize subgroups of the disorder upon genetic grounds.
D000328:Adult; D000450:Aldosterone / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006929:Hyperaldosteronism / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009318:Natriuresis; D010375:Pedigree
D000450:Aldosterone
Pseudo-hypoaldostéronisme: formes familiales. A propos de huit cas et revue de la littérature.