TITLE:
Isolated aldosterone deficiency in two infants: Mistakes and dilemmas in the diagnosis and treatment of a rare disease
AUTHORS:
Ivana Pela, Laura Capirchio, Camilla Menchini, Giulia Anzilotti, Salvatore Seminara
KEYWORDS:
Hyponatremia; Salt-Wasting Syndrome; Metabolic Acidosis; Aldosterone; Renin
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.3 No.4,
December
12,
2013
ABSTRACT:
In this article, we
describe the clinical picture and follow-up of two children diagnosed as suffering from pseudohypoaldosteronism when they were
infants, and it was later recognized as isolated aldosterone deficiency in both. We illustrate the clinical
differences between the two patients in terms of hydroelectrolytic balance,
laboratory data and growth. In fact, while the growth and hematological
parameters of the electrolytes and acid-base balance were normal in the first
patient, and also without treatment with fludrocortisone thanks to very high
renin activity, in the second patient, this treatment was vitally necessary to maintain normal growth and biochemical data.
Despite the absence of a molecular analysis which could have confirmed this
diagnosis, we believe that the description of the clinical evolution of these
two cases from the moment of the incorrect diagnosis until the correct
diagnosis and action taken, could be useful to highlight the extreme clinical
variability of this rare disease.