ABCA3 deficiency from birth to adulthood presenting as paediatric interstitial lung disease

We describe the clinical progress of siblings who initially presented with an undifferentiated paediatric interstitial lung disease at birth which was eventually diagnosed in adulthood as pulmonary surfactant dysfunction due to ATP ‐binding cassette subfamily A member 3 (ABCA3) mutations. Clinical deterioration was due to progressive pulmonary hypertension and a moderate decline in forced expiratory volume in 1 sec (FEV1), rather than progression of the interstitial lung disease. AbstractPaediatric disorders of pulmonary surfactant may occur due to mutations involving surfactant proteins B and C, and ATP ‐binding cassette subfamily A member 3 (ABCA3) genes. Recessive frameshift or nonsenseABCA3 mutations are associated with respiratory failure and neonatal death but milder phenotypes ofABCA3 deficiency due to missense, splice site, and insertion/deletions may result in survival beyond infancy. To date, only one case report describes the clinical course from birth to age 21  years and there are less than 10 adult cases. No guidelines exist for medical therapy due to the rarity of this condition. We describe the clinical course of a patient over 39 years and her younger brother who were both diagnosed at birth with an unspecified paediatric interstitial lung disease (ILD) and were eventually diagnosed withABCA3 mutation in their adulthood. Our report highlights the minimal progression of theABCA3‐related ILD without long‐term medications, but the development of dysp...
Source: Respirology Case Reports - Category: Respiratory Medicine Authors: Tags: Case Report Source Type: research