Endocrine and Metabolic Science · Published 2025-10-15 · DOI 10.1016/j.endmts.2025.100276
There is reported a case of a 5-month-old boy diagnosed with Type I pseudohypoaldosteronism which is a rare salt-losing disease caused by resistance of the target organs to aldosterone.Diagnosis was based on clinical presentation with frequent admissions from a young age due recurrent episodes of vomiting and wheezing as well as relevant electrolyte disturbances. It is interesting that during hospitalizations, the baby showed recurrent episodes of wheezing not responding to b-agonists and corticosteroids and depended on daily oxygen supplementation. Molecular investigation of the ENac gene was normal.The systemic form of type I pseudoaldosteronism involves pulmonary dysfunction in addition to increased levels of aldosterone.
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