Different course of lung disease in two siblings with

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Deleterious variants in genes encoding surfactant protein. (SP)-B, SP-C and ... ABCA3 deficiency occurs approximately in 1:3,100 among this population [8].
Eur J Pediatr DOI 10.1007/s00431-013-2087-3

CASE REPORT

Different course of lung disease in two siblings with novel ABCA3 mutations Maarja Hallik & Tarmo Annilo & Mari-Liis Ilmoja

Received: 19 May 2013 / Accepted: 24 June 2013 # Springer-Verlag Berlin Heidelberg 2013

Abstract Mutations in the gene for adenosine triphosphatebinding cassette transporter subfamily A member 3 (ABCA3) have been reported in infants and children with surfactant deficiency and interstitial lung disease. We report a case of siblings found to be compound heterozygotes for two novel ABCA3 gene mutations but developing very different course of lung disease. The index case is a baby girl with severe interstitial lung disease that manifested on the first days of life. Her 4-year-old brother carrying the same mutations has no signs of lung disease so far. Our findings suggest the contribution of other genetic, epigenetic and environmental factors to discordant phenotype observed in patients carrying the same mutations in the ABCA3 gene. The clinical course of the index case suggests benefit of combined medical therapy in treating infants with ABCA3 deficiency. Keywords ABCA3 . Surfactant . Paediatric interstitial lung disease . Newborn respiratory distress Abbreviations ABCA3 Adenosine triphosphate-binding cassette transporter subfamily A member 3 CPAP Continuous-positive airway pressure CT Computed tomography ILD Interstitial lung disease M. Hallik (*) : M.