Characteristics of disorders associated with genetic mutations of surfactant protein C

Archives of Disease in Childhood

Volumn 95, Issue 6, 2010, Pages 449-454

  Thouvenin, Guillaume ^a,b,c   Taam, Rola Abou ^d,e   Flamein, Florence ^a,b   Guillot, Loïc ^a,b   Bourgeois, Muriel Le ^d,e   Reix, Philippe ^f   Fayon, Mickael ^g   Counil, François ^h   Depontbriand, Ulrika ⁱ   Feldmann, Delphine ^c   Pointe, Hubert Ducou Le ^c   De Blic, Jacques ^d,e   Clement, Annick ^a,b,c   Epaud, Ralph ^a,b,c  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f Pediatric Pneumology Allergology Department   (France)

^g HÔPITAL PELLEGRIN   (France)

^h HÔPITAL ARNAUD DE VILLENEUVE   (France)

ⁱ Hopital Mere Enfant CHU de Nantes   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AZITHROMYCIN; CORTICOSTEROID; COTRIMOXAZOLE; HYDROXYCHLOROQUINE; METHYLPREDNISOLONE; PREDNISOLONE; PROTON PUMP; SURFACTANT PROTEIN C;

ARTICLE; BRONCHIOLITIS; CHILD; CLINICAL ARTICLE; COUGHING; ENTERIC FEEDING; FEMALE; GENE MUTATION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; INTERSTITIAL LUNG DISEASE; LUNG LAVAGE; MALE; OXYGEN SATURATION; PRESCHOOL CHILD; PRIORITY JOURNAL; TACHYPNEA;

AGE OF ONSET; BRONCHOALVEOLAR LAVAGE FLUID; BRONCHOSCOPY; FEMALE; GLUCOCORTICOIDS; HUMANS; INFANT; INFANT, NEWBORN; LUNG DISEASES, INTERSTITIAL; MALE; MUTATION; OXYGEN INHALATION THERAPY; PULMONARY SURFACTANT-ASSOCIATED PROTEIN C; TOMOGRAPHY, X-RAY COMPUTED; TREATMENT OUTCOME;

EID: 77953698896     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.2009.171553     Document Type: Article

References (39)

1. Hawgood S. Surfactant protein B: structure and function. Biol Neonate 2004;85:285-9.
2. Weaver TE, Conkright JJ. Function of surfactant proteins B and C. Annu Rev Physiol 2001;63:555-78.
3. Nogee LM, Garnier G, Dietz HC, et al. A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. J Clin Invest 1994;93:1860-3. (Pubitemid 24116431)
4. Nogee LM, Dunbar AE 3rd, Wert SE, et al. A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N Engl J Med 2001;344:573-9.
5. Whitsett JA, Wert SE, Xu Y. Genetic disorders of surfactant homeostasis. Biol Neonate 2005;87:283-7.
6. Hartl D, Griese M. Interstitial lung disease in children - genetic background and associated phenotypes. Respir Res 2005;6:32. (Pubitemid 41358038)
7. Amin RS, Wert SE, Baughman RP, et al. Surfactant protein deficiency in familial interstitial lung disease. J Pediatr 2001;139:85-92.
8. Bullard JE, Wert SE, Whitsett JA, et al. ABCA3 mutations associated with pediatric interstitial lung disease. Am J Respir Crit Care Med 2005;172:1026-31.
9. Nogee LM. Alterations in SP-B and SP-C expression in neonatal lung disease. Annu Rev Physiol 2004;66:601-23.
10. Lawson WE, Grant SW, Ambrosini V, et al. Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF. Thorax 2004;59:977-80. (Pubitemid 39490784)
11. Sánchez-Pulido L, Martín-Belmonte F, Valencia A, et al. MARVEL: a conserved domain involved in membrane apposition events. Trends Biochem Sci 2002;27:599-601. (Pubitemid 35435304)
12. Mulugeta S, Maguire JA, Newitt JL, et al. Misfolded BRICHOS SP-C mutant proteins induce apoptosis via caspase-4- and cytochrome c-related mechanisms. Am J Physiol Lung Cell Mol Physiol 2007;293:L720-9. (Pubitemid 47358835)
13. Mulugeta S, Nguyen V, Russo SJ, et al. A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation. Am J Respir Cell Mol Biol 2005;32:521-30. (Pubitemid 40770130)
14. Nerelius C, Martin E, Peng S, et al. Mutations linked to interstitial lung disease can abrogate anti-amyloid function of prosurfactant protein C. Biochem J 2008;416:201-9.
15. Markart P, Ruppert C, Wygrecka M, et al. Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias. Eur Respir J 2007;29:134-7. (Pubitemid 46092009)
16. Guillot L, Epaud R, Thouvenin G, et al. New surfactant protein C gene mutations associated with diffuse lung disease. J Med Genet 2009;46:490-4.
17. Abou Taam R, Jaubert F, Emond S, et al. Familial interstitial disease with I73T mutation: a mid- and long-term study. Pediatr Pulmonol 2009;44:167-75.
18. Sempé M. Study of growth from birth to 18 months. Arch Fr Pediatr 1977;34:687-8.
19. Thomas AQ, Lane K, Phillips J 3rd, et al. Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. Am J Respir Crit Care Med 2002;165:1322-8. (Pubitemid 34461748)
20. Glasser SW, Witt TL, Senft AP, et al. Surfactant protein C-deficient mice are susceptible to respiratory syncytial virus infection. Am J Physiol Lung Cell Mol Physiol 2009;297:L64-72.
21. Bridges JP, Xu Y, Na CL, et al. Adaptation and increased susceptibility to infection associated with constitutive expression of misfolded SP-C. J Cell Biol 2006;172:395-407. (Pubitemid 43187936)
22. Hamvas A, Nogee LM, White FV, et al. Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene. Am J Respir Cell Mol Biol 2004;30:771-6. (Pubitemid 38736899)
23. Brasch F, Griese M, Tredano M, et al. Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. Eur Respir J 2004;24:30-9. (Pubitemid 39036124)
24. Cameron HS, Somaschini M, Carrera P, et al. A common mutation in the surfactant protein C gene associated with lung disease. J Pediatr 2005;146:370-5. (Pubitemid 40341748)
25. Nogee LM, Wert SE, Proffit SA, et al. Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency. Am J Respir Crit Care Med 2000;161:973-81.
26. Brasch F, Schimanski S, Mühlfeld C, et al. Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. Am J Respir Crit Care Med 2006;174:571-80. (Pubitemid 44330551)
27. Clark JC, Wert SE, Bachurski CJ, et al. Targeted disruption of the surfactant protein B gene disrupts surfactant homeostasis, causing respiratory failure in newborn mice. Proc Natl Acad Sci USA 1995;92:7794-8.
28. Vorbroker DK, Profitt SA, Nogee LM, et al. Aberrant processing of surfactant protein C in hereditary SP-B deficiency. Am J Physiol 1995;268:L647-56.
29. Li J, Hosia W, Hamvas A, et al. The N-terminal propeptide of lung surfactant protein C is necessary for biosynthesis and prevents unfolding of a metastable alpha-helix. J Mol Biol 2004;338:857-62. (Pubitemid 38542818)
30. Clement A. Task force on chronic interstitial lung disease in immunocompetent children. Eur Respir J 2004;24:686-97. (Pubitemid 38701807)
31. Deutsch GH, Young LR, Deterding RR, et al. Diffuse lung disease in young children: application of a novel classification scheme. Am J Respir Crit Care Med 2007;176:1120-8.
32. Mulugeta S, Beers MF. Surfactant protein C: its unique properties and emerging immunomodulatory role in the lung. Microbes Infect 2006;8:2317-23. (Pubitemid 44311585)
33. Dinwiddie R, Sharief N, Crawford O. Idiopathic interstitial pneumonitis in children: a national survey in the United Kingdom and Ireland. Pediatr Pulmonol 2002;34:23-9. (Pubitemid 34686707)
34. Schultz MJ. Macrolide activities beyond their antimicrobial effects: macrolides in diffuse panbronchiolitis and cystic fibrosis. J Antimicrob Chemother 2004;54:21-8.
35. Clement A, Tamalet A, Leroux E, et al. Long term effects of azithromycin in patients with cystic fibrosis: a double blind, placebo controlled trial. Thorax 2006;61:895-902. (Pubitemid 44570311)
36. Tucker S, Ahl M, Bush A, et al. Pilot study of the reducing effect on amyloidosis in vivo by three FDA pre-approved drugs via the Alzheimer's APP 5′ untranslated region. Curr Alzheimer Res 2005;2:249-54. (Pubitemid 40862888)
37. Johansson J, Weaver TE, Tjernberg LO. Proteolytic generation and aggregation of peptides from transmembrane regions: lung surfactant protein C and amyloid beta-peptide. Cell Mol Life Sci 2004;61:326-35. (Pubitemid 38223407)
38. Rosen DM, Waltz DA. Hydroxychloroquine and surfactant protein C deficiency. N Engl J Med 2005;352:207-8.
39. Beers MF. Inhibition of cellular processing of surfactant protein C by drugs affecting intracellular pH gradients. J Biol Chem 1996;271:14361-70.