Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate

BMJ Case Reports

Volumn , Issue , 2011, Pages

  Parappil, Hussain ^a,b   Al Baridi, Ahmad ^a   Ur Rahman, Sajjad ^a,b   Kitchi, Mahmood H ^c   Ruef, P ^d   Griese, M ^e   Lohse, P ^f   Aslanidis, C ^g   Schmitz, G ^g   Koch, L ^d   Poeschl, J ^d  

^a HAMAD MEDICAL CORPORATION   (Qatar)

^b WEILL CORNELL MEDICAL COLLEGE   (Qatar)

^c HAMAD MEDICAL CORPORATION   (Qatar)

^d UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^f UNIVERSITY OF MUNICH   (Germany)

^g UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ATP BINDING CASSETTE TRANSPORTER 3; DEXAMETHASONE; HYDROXYCHLOROQUINE; LUNG SURFACTANT; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CHRONIC RESPIRATORY FAILURE; COAGULASE NEGATIVE STAPHYLOCOCCUS; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINITY; CSF2RA GENE; DISEASE SEVERITY; DOPPLER ECHOGRAPHY; ENTEROBACTER CLOACAE; EXON; FEMALE; GENE; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; INFANT; KLEBSIELLA PNEUMONIAE INFECTION; LOSS OF FUNCTION MUTATION; LUNG BIOPSY; LUNG INFLATION; LUNG LAVAGE; LUNG SURFACTANT PROTEIN DEFICIENCY; LUNG TRANSPLANTATION; LUNG VENTILATION; MULTIPLE DRUG DOSE; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; NEWBORN INTENSIVE CARE; NOSE FEEDING; OLIGOHYDRAMNIOS; PARENT; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PSEUDOMONAS AERUGINOSA; SEPSIS; SEQUENCE ANALYSIS; SFTPB GENE; SFTPC GENE; SHORT COURSE THERAPY; STAPHYLOCOCCUS AUREUS; STENOTROPHOMONAS MALTOPHILIA; TACHYPNEA; THORAX RADIOGRAPHY; TRACHEOTOMY; VENTILATOR ASSOCIATED PNEUMONIA;

EID: 79955413547     PISSN: None     EISSN: 1757790X     Source Type: Journal    
DOI: 10.1136/bcr.10.2010.3427     Document Type: Article

References (19)

1. Rennie J. Roberton's Textbook of Neonatology. Fourth edition. London: Churchill Livingstone, 2005.
2. Wert SE, Whitsett JA, Nogee LM. Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol 2009;12:253-74.
3. Whitsett JA, Weaver TE. Hydrophobic surfactant proteins in lung function and disease. N Engl J Med 2002;347:2141-8.
4. Mulugeta S, Gray JM, Notarfrancesco KL, et al. Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3. J Biol Chem 2002;277:22147-55.
5. Nagata K, Yamamoto A, Ban N, et al. Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles. Biochem Biophys Res Commun 2004;324:262-8.
6. Nogee LM. Surfactant protein-B deficiency. Chest 1997;111 (6 Suppl):129-35S.
7. Tredano M, Griese M, de Blic J, et al. Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB. Am J Med Genet A 2003;119A:324-39.
8. Shulenin S, Nogee LM, Annilo T, et al. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med 2004;350:1296-303.
9. Cole FS, Nogee LM, Hamvas A. Defects in surfactant synthesis: clinical implications. Pediatr Clin North Am 2006;53:911-27, ix.
10. Anandarajan M, Paulraj S, Tubman R. ABCA3 deficiency: an unusual cause of respiratory distress in the newborn. Ulster Med J 2009;78:51-2.
11. Poterjoy BS, Vibert Y, Sola-Visner M, et al. Neonatal respiratory failure due to a novel mutation in the surfactant protein C gene. J Perinatol 2010;30:151-3.
12. Garmany TH, Wambach JA, Heins HB, et al. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res 2008;63:645-9.
13. Bener A, Hussain R. Consanguineous unions and child health in the State of Qatar. Paediatr Perinat Epidemiol 2006;20:372-8.
14. Abdulrazzaq YM, Bener A, al-Gazali LI, et al. A study of possible deleterious effects of consanguinity. Clin Genet 1997;51:167-73.
15. Hamvas A. Evaluation and management of inherited disorders of surfactant metabolism. Chin Med J 2010;123:2943-7.
16. Bullard JE, Wert SE, Nogee LM. ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease. Semin Perinatol 2006;30:327-34.
17. Dinwiddie R. Treatment of interstitial lung disease in children. Paediatr Respir Rev 2004;5:108-15.
18. Rosen DM, Waltz DA. Hydroxychloroquine and surfactant C deficiency. N Engl J Med 2005;352:207-8.
19. Faro A, Hamvas A. Lung transplantation for inherited disorders of surfactant metabolism. Neoreviews 2008;9:e468-76.