A case of primary pseudohypoaldosteronism accompanied by respiratory distress syndrome

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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Publication Details

Journal
Endocrine and Metabolic Science
Published
2025-10-15
DOI
https://doi.org/10.1016/j.endmts.2025.100276
Primary Topic
Ion Transport and Channel Regulation
Type
article
Field-Weighted Citation Impact
0.00
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article

A case of primary pseudohypoaldosteronism accompanied by respiratory distress syndrome

Salavoura Katerina, Kanaka Christina, Lykopoulou Evaggelia, Lazopoulou Despina
Endocrine and Metabolic Science
Ion Transport and Channel Regulation
article

A case of primary pseudohypoaldosteronism accompanied by respiratory distress syndrome

Salavoura Katerina, Kanaka Christina, Lykopoulou Evaggelia, Lazopoulou Despina
article en

Abstract

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.

Endocrine and Metabolic ScienceVol. 19
Children's Hospital Agia Sophia (GR)
Openalex Percentile: Top 74%
Ion Transport and Channel Regulation
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