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.
Highlights
Aldosterone is a key hormone which, through its effects on the Na-K ATPase pump of the distal convolute tubules, regulates electrolyte excretion and intravascular volume
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
It can result from a genetic disorder involving the entire gland or genetic disorders affecting converting enzymes that play a key role in aldosterone biosynthesis, such as the 21hydroxylase deficiency and the 3β-hydroxysteroid dehydrogenase deficiency
Summary
Aldosterone is a key hormone which, through its effects on the Na-K ATPase pump of the distal convolute tubules, regulates electrolyte excretion and intravascular volume. Aldosterone synthesis deficiency may result from chronic primary adrenal insufficiency (Addison’s disease) due to adrenal cortex injury after an infection, an autoimmune process, adrenal hemorrhage or infarction It can result from a genetic disorder involving the entire gland (such as congenital adrenal hypoplasia or X-linked adrenoleukodystrophy) or genetic disorders affecting converting enzymes that play a key role in aldosterone biosynthesis, such as the 21hydroxylase deficiency and the 3β-hydroxysteroid dehydrogenase deficiency. Very few patients have aldosterone deficiency associated with entirely normal cortisol and sex steroid synthesis: this is a clinical condition called “isolated hypoaldosteronism”, an inherited autosomal recessive disorder of terminal aldosterone synthesis, which leads to selective aldosterone deficiency The prevalence of this rare disease is unknown, as well as its mortality, and ACE: angiotensin-converting enzyme SD: standrad deviations PHA: pseudohypoaldosteronism MR: renal mineral corticoid receptors ENaC: epithelial sodium channel AS: aldosterone synthase CMO I: corticosterone methyloxidase deficiency type 1 CMO II: corticosterone methyloxidase deficiency type 2 FHHA2: familial hyperreninemic hypoaldosteronism type 2. We present 2 observations of the neonatal-wasting syndrome, the clinical history and follow-up of which are compatible with a diagnosis of isolated hypoaldosteronism
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