Paediatric respiratory reviews · 2024
Pulmonary manifestations of Pseudohypoaldosteronism type 1b: A systematic review of the literature.
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Chantzaras Anastasios-Panagiotis, Panagiotou Panagiota, Koltsida Georgia, Moudaki Angeliki, Kanaka-Gantenbein Christina, Kaditis Athanasios G
Аннотация
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.
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.