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

The reader will be able to appreciate that:•Patients with Pseudohypoaldosteronism type 1b (PHA1B) may develop pulmonary manifestations requiring specialized respiratory care.•Respiratory symptoms in PHA1B typically begin early in life and vary from mild to severe respiratory infections, occasionally caused by uncommon pathogens.•PHA1B patients may develop cystic fibrosis-like respiratory phenotype and bronchiectasis later in life.•PHA1B patients typically have pathological sweat test values, which necessitates the exclusion of cystic fibrosis via genetic testing. 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. We provide a systematic review of published cases with PHA1B and respiratory symptoms, adding a relevant case from our clinic. 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. 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.