ABCA3 deficiency: An unusual cause of respiratory distress in the newborn

Ulster Medical Journal

Volumn 78, Issue 1, 2009, Pages 51-52

  Anandarajan, Mujilan ^a   Paulraj, Sunil ^a   Tubman, Richard ^a  

^a ROYAL MATERNITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A3; ANTIBIOTIC AGENT; ARGININE; GLYCINE; LUNG SURFACTANT; SURFACTANT PROTEIN B; SURFACTANT PROTEIN C; UNCLASSIFIED DRUG;

ABC TRANSPORTER A3 DEFICIENCY; AMINO ACID SUBSTITUTION; ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; DNA DETERMINATION; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; LEUKOCYTE COUNT; LUNG LAVAGE; NEWBORN; PREMATURE LABOR; PROTEIN DEFICIENCY; RESPIRATORY DISTRESS SYNDROME; THORAX RADIOGRAPHY;

ATP-BINDING CASSETTE TRANSPORTERS; FEMALE; HUMANS; HYALINE MEMBRANE DISEASE; INFANT, NEWBORN; PROTEIN C; PROTEIN PRECURSORS; PROTEOLIPIDS;

EID: 59249103468     PISSN: 00416193     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Roberton's Textbook of Neonatology, 4th edition (Ed: J Rennie). London, Churchill Livingstone, 2005.
2. Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med 2004;350(13):1296-303.
3. Whitsett, J A, Wert SE, Trapnell BC. Genetic disorders influencing lung formation and function at birth. Hum Mol Genet 2004;13 (Spec No 2): R207-15.
4. Garmany TH, Moxley MA, White FV, Dean M, Hull WM, Whitsett JA, et al. Surfactant composition and function in patients with ABCA3 mutations. Pediatr Res 2006;59(6):801-5.
5. Saugstad OD, Hansen TW, Rønnestad A, Nakstad B, Tølløfsrud PA, et al. Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease. Acta Paediatr 2007; 96(2):185-90.
6. Garmany TH, Wambach JA, Heins HB, Watkins-Torry JM, Wegner DJ, Bennet K, et al. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res 2008;63(6):645-9.