Manuscript for Review Process
A case of primary pseudohypoaldosteronism
Abstract:
Type I pseudohypoaldosteronism is a salt-loosing disease due to resistance of the target organs to aldosterone. We report the case of a 5-month old boy with the systemic form of the disease. On admission the baby was dehydrated with electrolyte disturbances and had a severe pulmonary involvement due to extensive pneumonia. It is interesting that during hospitalization, the baby showed recurrent episodes of wheezing not responding to b-blockers and corticosteroids and dependence from daily oxygen ventilation. Molecular investigation for ECaN gene was normal. This rare disease involves pulmonary function in addition to aldosterone dysfunction. Type I pseudohypoaldosteronism is a salt-loosing disease due to resistance of the target organs to aldosterone. We report the case of a 5-month old boy with the systemic form of the disease with electrolyte disturbances and severe pulmonary involvement.
Keywords:
Pseudohypoaldosteronism, resistance