Pulmonary manifestations of Pseudohypoaldosteronism type 1b: A systematic review of the literature.

INTRODUCTION

Pseudohypoaldosteronism type 1b (PHA1B) is a rare autosomal recessive disease caused by dysfunction of amiloride-sensitive epithelial sodium channels (ENaC), that might present with a wide variety of pulmonary symptoms.

METHODS

We provide a systematic review of published cases with PHA1B and respiratory symptoms, adding a relevant case from our clinic.

RESULTS

Thirty-seven publications presenting 61 cases were identified apart from our case. Parental consanguinity was reported in 24/62 patients. In 39 patients the onset of pulmonary manifestations was early in infancy. Lower respiratory tract infections caused by Pseudomonas aeruginosa and Staphylococcus aureus were reported in 3 cases each, while 2 patients developed bronchiectasis. Pathological sweat test results were recorded in all 34 patients with available data. In 36/47 patients the underlying pathogenic variant was identified in SCNN1A gene.

CONCLUSION

High clinical suspicion is required when treating patients with PHA1B for the potential need for early treatment of respiratory symptoms to avert any permanent pulmonary damage.