Surfactant protein disorders in childhood interstitial lung disease.

ATP-Binding Cassette Transporters / genetics Child Humans Lung Lung Diseases, Interstitial / etiology Mutation Pulmonary Surfactants Surface-Active Agents
ABCA3 SFTPB SFTPC Surfactant TTF1 chILD

Journal

European journal of pediatrics
ISSN: 1432-1076
Titre abrégé: Eur J Pediatr
Pays: Germany
ID NLM: 7603873

Informations de publication

Date de publication:
Sep 2021
Historique:
received: 05 01 2021
accepted: 04 04 2021
revised: 26 03 2021
pubmed: 12 4 2021
medline: 11 8 2021
entrez: 11 4 2021
Statut: ppublish

Résumé

Surfactant, which was first identified in the 1920s, is pivotal to lower the surface tension in alveoli of the lungs and helps to lower the work of breathing and prevents atelectasis. Surfactant proteins, such as surfactant protein B and surfactant protein C, contribute to function and stability of surfactant film. Additionally, adenosine triphosphate binding cassette 3 and thyroid transcription factor-1 are also integral for the normal structure and functioning of pulmonary surfactant. Through the study and improved understanding of surfactant over the decades, there is increasing interest into the study of childhood interstitial lung diseases (chILD) in the context of surfactant protein disorders. Surfactant protein deficiency syndrome (SPDS) is a group of rare diseases within the chILD group that is caused by genetic mutations of SFTPB, SFTPC, ABCA3 and TTF1 genes.Conclusion: This review article seeks to provide an overview of surfactant protein disorders in the context of chILD. What is Known: • Surfactant protein disorders are an extremely rare group of disorders caused by genetic mutations of SFTPB, SPTPC, ABCA3 and TTF1 genes. • Given its rarity, research is only beginning to unmask the pathophysiology, inheritance, spectrum of disease and its manifestations. What is New: • Diagnostic and treatment options continue to be explored and evolve in these conditions. • It is, therefore, imperative that we as paediatricians are abreast with current development in this field.

Identifiants

DOI: 10.1007/s00431-021-04066-3 PMID: 33839914
pubmed: 33839914
doi: 10.1007/s00431-021-04066-3
pii: 10.1007/s00431-021-04066-3
doi:

Substances chimiques

ATP-Binding Cassette Transporters 0
Pulmonary Surfactants 0
Surface-Active Agents 0

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

2711-2721

Informations de copyright

© 2021. Crown.

Références

Halliday HL (2017) The fascinating story of surfactant. J Paediatr Child Health 53:327–332
pubmed: 28271629 doi: 10.1111/jpc.13500
Obladen M (2005) History of surfactant up to 1980. Biol Neonate 87:308–316
pubmed: 15985753 doi: 10.1159/000084878
Gruenwald P (1947) Surface tension as a factor in the resistance of neonatal lungs to aeration. Am J Obstet Gynecol 53:996–1007
pubmed: 20247853 doi: 10.1016/S0002-9378(16)39775-7
Avery M, Mead J (1959) Surface properties in relation to atelectasis and hyaline membrane disease. AMA J Dis Child 97:517–523
pubmed: 13649082
Halliday HL (2008) Surfactants: past, present and future. J Perinatol 28:S47–S56
pubmed: 18446178 pmcid: 7104445 doi: 10.1038/jp.2008.50
Pattle RE (1955) Properties, function and origin of the alveolar lining layer. Nature 175:1125–1126
pubmed: 14394123 doi: 10.1038/1751125b0
Weibel ER, Limacher W, Bachofen H (1982) Electron microscopy of rapidly frozen lungs: evaluation on the basis of standard criteria. J Appl Physiol 53:516–527
pubmed: 7118672 doi: 10.1152/jappl.1982.53.2.516
Perez-Gil J, Weaver TE (2010) Pulmonary surfactant pathophysiology: current models and open questions. Physiology (Bethesda) 25:132–141
Albert RK (2012) The role of ventilation-induced surfactant dysfunction and atelectasis in causing acute respiratory distress syndrome. Am J Respir Crit Care Med 185:702–708
pubmed: 22227381 doi: 10.1164/rccm.201109-1667PP
Hime NJ, Zurynski Y, Fitzgerald D, Selvadurai H, Phu A, Deverell M, Elliott EJ, Jaffe A (2015) Childhood interstitial lung disease: a systematic review. Pediatr Pulmonol 50:1383–1392
pubmed: 25931270 doi: 10.1002/ppul.23183
Gower WA, Nogee LM (2011) Surfactant dysfunction. Paediatr Respir Rev 12:223–229
pubmed: 22018035 pmcid: 3201772 doi: 10.1016/j.prrv.2011.01.005
Ridsdale R, Post M (2004) Surfactant lipid synthesis and lamellar body formation in glycogen-laden type II cells. Am J Physiol Lung Cell Mol Physiol Am J Physiol-Lung C 287:L743–L751
doi: 10.1152/ajplung.00146.2004
Weaver TE, Na C-L, Stahlman M (2002) Biogenesis of lamellar bodies, lysosome-related organelles involved in storage and secretion of pulmonary surfactant. Semin Cell Dev Biol 13:263–270
pubmed: 12243725 doi: 10.1016/S1084952102000551
Matsuzaki Y, Besnard V, Clark JC, Xu Y, Wert SE, Ikegami M, Whitsett JA (2008) STAT3 regulates ABCA3 expression and influences lamellar body formation in alveolar type II cells. Am J Respir Cell Mol Biol 38:551–558
pubmed: 18096869 doi: 10.1165/rcmb.2007-0311OC
Oosterlaken-Dijksterhuis MA, Haagsman HP, Van Golde LMG, Demel RA (1991) Characterization of lipid insertion into monomolecular layers mediated by lung surfactant proteins SP-B and SP-C. Biochemistry 30:10965–10971
pubmed: 1932022 doi: 10.1021/bi00109a022
Hamvas A (2006) Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation. Semin Perinatol 30:316–326
pubmed: 17142157 doi: 10.1053/j.semperi.2005.11.002
King RJ, MacBeth MC (1981) Interaction of the lipid and protein components of pulmonary surfactant Role of phosphatidylglycerol and calcium. Biochimica et Biophysica Acta (BBA)- Biomembranes 647:159–168
doi: 10.1016/0005-2736(81)90242-X
Ingenito EP, Mark L, Morris J, Espinosa FF, Kamm RD, Johnson M (1999) Biophysical characterization and modeling of lung surfactant components. J Appl Physiol 86:1702–1714
pubmed: 10233138 doi: 10.1152/jappl.1999.86.5.1702
Numata M, Chu HW, Dakhama A, Voelker DR (2010) Pulmonary surfactant phosphatidylglycerol inhibits respiratory syncytial virus–induced inflammation and infection. Proc Natl Acad Sci USA 107:320–325
pubmed: 20080799 doi: 10.1073/pnas.0909361107
Veldhuizen EJA, Haagsman HP (2000) Role of pulmonary surfactant components in surface film formation and dynamics. Biochim Biophys Acta Biomembr 1467:255–270
doi: 10.1016/S0005-2736(00)00256-X
Whitsett JA, Weaver TE (2008) Chapter 2 - Hereditary disorders of alveolar homeostasis in the newborn. In: Polin RA, Bancalari E (eds) The newborn lung. W.B. Saunders, Philadelphia, pp 42–49
doi: 10.1016/B978-141603166-6.10002-6
Stahlman MT, Besnard V, Wert SE, Weaver TE, Dingle S, Xu Y, Kv Z, Olson SJ, Whitsett JA (2007) Expression of ABCA3 in developing lung and other tissues. J Histochem Cytochem 55:71–83
pubmed: 16982851 doi: 10.1369/jhc.6A6962.2006
Possmayer F (1988) A proposed nomenclature for pulmonary surfactant-associated proteins. Am Rev Respir Dis 138:990–998
pubmed: 3059887 doi: 10.1164/ajrccm/138.4.990
Sano H, Kuroki Y (2005) The lung collectins, SP-A and SP-D, modulate pulmonary innate immunity. Mol Immunol 42:279–287
pubmed: 15589315 doi: 10.1016/j.molimm.2004.07.014
Wright JR (1997) Immunomodulatory functions of surfactant. Physiol Rev 77:931–962
pubmed: 9354809 doi: 10.1152/physrev.1997.77.4.931
Carreto-Binaghi LE, Aliouat EM, Taylor ML (2016) Surfactant proteins, SP-A and SP-D, in respiratory fungal infections: their role in the inflammatory response. Respir Res 17:66
pubmed: 27250970 pmcid: 4888672 doi: 10.1186/s12931-016-0385-9
Han S, Mallampalli RK (2015) The role of surfactant in lung disease and host defense against pulmonary infections. Ann Am Thorac Soc 12:765–774
pubmed: 25742123 pmcid: 4418337 doi: 10.1513/AnnalsATS.201411-507FR
Matsumura Y, Ban N, Ueda K, Inagaki N (2006) Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. J Biol Chem 281:34503–34514
pubmed: 16959783 doi: 10.1074/jbc.M600071200
Weaver TE (1998) Synthesis, processing and secretion of surfactant proteins B and C. Biochim Biophys Acta Mol Basis Dis 1408:173–179
doi: 10.1016/S0925-4439(98)00066-0
deFelice M, Silberschmidt D, DiLauro R, Xu Y, Wert SE, Weaver TE, Bachurski CJ, Clark JC, Whitsett JA (2003)TTF-1 phosphorylation is required for peripheral lung morphogenesis, perinatal survival, and tissue-specific gene expression. J Biol Chem 278:35574–35583
pubmed: 12829717 doi: 10.1074/jbc.M304885200
Attarian SJ, Leibel SL, Yang P, Alfano DN, Hackett BP, Cole FS, Hamvas A (2018) Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC. Pediatr Res 84:419–425
pubmed: 29538355 pmcid: 6599453 doi: 10.1038/pr.2018.30
Nogee LM (2004) Alterations in SP-B and SP-C expression in neonatal lung disease. Annu Rev Physiol 66:601–623
pubmed: 14977415 doi: 10.1146/annurev.physiol.66.032102.134711
Nogee LM (2002) Abnormal expression of surfactant protein C and lung disease. Am J Respir Cell Mol Biol 26:641–644
pubmed: 12034561 doi: 10.1165/ajrcmb.26.6.f241
Galetskiy D, Woischnik M, Ripper J, Griese M, Przybylski M (2008) Aberrant processing forms of lung surfactant proteins SP–B and SP–C revealed by high-resolution mass spectrometry. Eur J Mass Spectrom 14:379–390
doi: 10.1255/ejms.957
Garmany TH, Wambach JA, Heins HB, Watkins-Torry JM, Wegner DJ, Bennet K, An P, Land G, Saugstad OD, Henderson H (2008) Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res 63:645–649
pubmed: 18317237 pmcid: 2765719 doi: 10.1203/PDR.0b013e31816fdbeb
Silveyra P, Floros J (2012) Genetic variant associations of human SP-A and SP-D with acute and chronic lung injury. Front Biosci 17:407–429
pmcid: 3635489 doi: 10.2741/3935 pubmed: 3635489
Tredano M, van Elburg RM, Kaspers AG, Zimmermann LJ, Houdayer C, Aymard P, Hull WM, Whitsett JA, Elion J, Griese M, Bahuau M (1999) Compound SFTPB 1549C→GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency. Hum Mutat 14:502–509
pubmed: 10571948 doi: 10.1002/(SICI)1098-1004(199912)14:6<502::AID-HUMU9>3.0.CO;2-C
Nogee LM, Dunbar AE 3rd, Wert SE, Askin F, Hamvas A, Whitsett JA (2001) A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N Engl J Med 344:573–579
pubmed: 11207353 doi: 10.1056/NEJM200102223440805
Mulugeta S, Nguyen V, Russo SJ, Muniswamy M, Beers MF (2005) 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 32:521–530
pubmed: 15778495 pmcid: 2715321 doi: 10.1165/rcmb.2005-0009OC
Sánchez-Pulido L, Devos D, Valencia A (2002) BRICHOS: a conserved domain in proteins associated with dementia, respiratory distress and cancer. Trends Biochem Sci 27:329–332
pubmed: 12114016 doi: 10.1016/S0968-0004(02)02134-5
Wang W-J, Mulugeta S, Russo SJ, Beers MF (2003) Deletion of exon 4 from human surfactant protein C results in aggresome formation and generation of a dominant negative. J Cell Sci 116:683–692
pubmed: 12538769 doi: 10.1242/jcs.00267
Hawkins A, Guttentag SH, Deterding R, Funkhouser WK, Goralski JL, Chatterjee S, Mulugeta S, Beers MF (2015) A non-BRICHOS SFTPC mutant (SP-CI73T) linked to interstitial lung disease promotes a late block in macroautophagy disrupting cellular proteostasis and mitophagy. Am J Physiol Lung Cell Mol Physiol Am J Physiol-Lung C 308:L33–L47
doi: 10.1152/ajplung.00217.2014
Beers MF, Mulugeta S (2005) Surfactant protein C biosynthesis and its emerging role in conformational lung disease. Annu Rev Physiol 67:663–696
pubmed: 15709974 doi: 10.1146/annurev.physiol.67.040403.101937
Maguire JA, Mulugeta S, Beers MF (2011) Endoplasmic reticulum stress induced by surfactant protein C BRICHOS mutants promotes proinflammatory signaling by epithelial cells. Am J Respir Cell Mol Biol 44:404–414
pubmed: 20463293 doi: 10.1165/rcmb.2009-0382OC
Li J, Hosia W, Hamvas A, Thyberg J, Jörnvall H, Weaver TE, Johansson J (2004) The N-terminal propeptide of lung surfactant protein C is necessary for biosynthesis and prevents unfolding of a metastable α-helix. J Mol Biol 338:857–862
pubmed: 15111052 doi: 10.1016/j.jmb.2004.03.051
Beers MF, Mulugeta S (2017) The biology of the ABCA3 lipid transporter in lung health and disease. Cell Tissue Res 367:481–493
pubmed: 28025703 doi: 10.1007/s00441-016-2554-z
Bullard JE, Wert SE, Whitsett JA, Dean M, Nogee LM (2005) ABCA3 mutations associated with pediatric interstitial lung disease. Am J Respir Crit Care Med 172:1026–1031
pubmed: 15976379 pmcid: 1403838 doi: 10.1164/rccm.200503-504OC
Brasch F, Schimanski S, Mühlfeld C, Barlage S, Langmann T, Aslanidis C, Boettcher A, Dada A, Schroten H, Mildenberger E (2006) Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. Am J Respir Crit Care Med 174:571–580
pubmed: 16728712 doi: 10.1164/rccm.200509-1535OC
Kröner C, Wittmann T, Reu S, Teusch V, Klemme M, Rauch D, Hengst M, Kappler M, Cobanoglu N, Sismanlar T, Aslan AT, Campo I, Proesmans M, Schaible T, Terheggen-Lagro S, Regamey N, Eber E, Seidenberg J, Schwerk N, Aslanidis C, Lohse P, Brasch F, Zarbock R, Griese M (2017) Lung disease caused by ABCA3 mutations. Thorax 72:213–220
pubmed: 27516224 doi: 10.1136/thoraxjnl-2016-208649
Wambach JA, Casey AM, Fishman MP, Wegner DJ, Wert SE, Cole FS, Hamvas A, Nogee LM (2014)Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am J Respir Crit Care Med 189:1538–1543
pubmed: 24871971 pmcid: 4226019 doi: 10.1164/rccm.201402-0342OC
Galambos C, Levy H, Cannon CL, Vargas SO, Reid LM, Cleveland R, Lindeman R, DeMello DE, Wert SE, Whitsett JA (2010) Pulmonary pathology in thyroid transcription factor-1 deficiency syndrome. Am J Respir Crit Care Med 182:549–554
pubmed: 20203240 pmcid: 2937244 doi: 10.1164/rccm.201002-0167CR
Carré A, Szinnai G, Castanet M, Sura-Trueba S, Tron E, Broutin-L’Hermite I, Barat P, Goizet C, Lacombe D, Moutard M-L, Raybaud C, Raynaud-Ravni C, Romana S, Ythier H, Léger J, Polak M (2009) Five new TTF1/NKX2.1 mutations in brain–lung–thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet 18:2266–2276
pubmed: 19336474 doi: 10.1093/hmg/ddp162
Moorsel CHM, Oosterhout MFM, Barlo NP, Jong PA, Vis JJ, Ruven HJT, Es HW, Bosch JMM, Grutters JC (2010) Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a Dutch cohort. Am J Respir Crit Care Med 182:1419–1425
pubmed: 20656946 doi: 10.1164/rccm.200906-0953OC
Salerno T, Peca D, Menchini L, Schiavino A, Boldrini R, Esposito F, Danhaive O, Cutrera R (2016) Surfactant protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation. Ital J Pediatr 42:23
pubmed: 26925580 pmcid: 4772310 doi: 10.1186/s13052-016-0235-x
Kröner C, Reu S, Teusch V, Schams A, Grimmelt A-C, Barker M, Brand J, Gappa M, Kitz R, Kramer BW, Lange L, Lau S, Pfannenstiel C, Proesmans M, Seidenberg J, Sismanlar T, Aslan AT, Werner C, Zielen S, Zarbock R, Brasch F, Lohse P, Griese M (2015) Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients. Eur Respir J 46:197–206
pubmed: 25657025 doi: 10.1183/09031936.00129414
Cameron HS, Somaschini M, Carrera P, Hamvas A, Whitsett JA, Wert SE, Deutsch G, Nogee LM (2005) A common mutation in the surfactant protein C gene associated with lung disease. J Pediatr 146:370–375
pubmed: 15756222 doi: 10.1016/j.jpeds.2004.10.028
Thouvenin G, Abou Taam R, Flamein F, Guillot L, Le Bourgeois M, Reix P, Fayon M, Counil F, Depontbriand U, Feldmann D (2010) Characteristics of disorders associated with genetic mutations of surfactant protein C. Arch Dis Child 95:449–454
pubmed: 20403820 doi: 10.1136/adc.2009.171553
Glasser SW, Witt TL, Senft AP, Baatz JE, Folger D, Maxfield MD, Akinbi HT, Newton DA, Prows DR, Korfhagen TR (2009) Surfactant protein C-deficient mice are susceptible to respiratory syncytial virus infection. Am J Physiol Lung Cell Mol Physiol Am J Physiol-Lung C 297:L64–L72
doi: 10.1152/ajplung.90640.2008
Bridges JP, Xu Y, Na C-L, Wong HR, Weaver TE (2006) Adaptation and increased susceptibility to infection associated with constitutive expression of misfolded SP-C. J Cell Biol 172:395–407
pubmed: 16449190 pmcid: 2063649 doi: 10.1083/jcb.200508016
Bullard JE, Nogee LM (2007) Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. Pediatr Res 62:176–179
pubmed: 17597647 doi: 10.1203/PDR.0b013e3180a72588
Kleinlein B, Griese M, Liebisch G, Krude H, Lohse P, Aslanidis C, Schmitz G, Peters J, Holzinger A (2011) Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis. Arch Dis Child Fetal Neonatal Ed 96:F453–F456
pubmed: 20584796 doi: 10.1136/adc.2009.180448
Nevel RJ, Garnett ET, Worrell JA, Morton RL, Nogee LM, Blackwell TS, Young LR (2016) Persistent lung disease in adults with NKX2.1 mutation and familial neuroendocrine cell hyperplasia of infancy. Ann Am Thorac Soc 13:1299–1304
pubmed: 27187870 pmcid: 5021081 doi: 10.1513/AnnalsATS.201603-155BC
Doan M, Guillerman R, Dishop M, Nogee L, Langston C, Mallory G, Sockrider M, Fan L (2008) Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax 63:366–373
pubmed: 18024538 doi: 10.1136/thx.2007.083766
Deterding R (2007) Evaluating infants and children with interstitial lung disease. Semin Respir Crit Care Med 28:333–341
pubmed: 17562503 doi: 10.1055/s-2007-981654
Guillerman RP (2010) Imaging of childhood interstitial lung disease. Pediatr Allergy Immunol Pulmonol 23:43–68
pubmed: 22332031 pmcid: 3269227 doi: 10.1089/ped.2010.0010
Griese M, Schumacher S, Tredano M, Steinecker M, Braun A, Guttentag S, Beers MF, Bahuau M (2005) Expression profiles of hydrophobic surfactant proteins in children with diffuse chronic lung disease. Respir Res 6:80
pubmed: 16042774 pmcid: 1224872 doi: 10.1186/1465-9921-6-80
Al-Salmi QA, Walter JN, Colasurdo GN, Sockrider MM, Smith EB, Takahashi H, Fan LL (2005) Serum KL-6 and surfactant proteins A and D in pediatric interstitial lung disease. Chest 127:403–407
pubmed: 15654008 doi: 10.1378/chest.127.1.403
Langston C, Patterson K, Dishop MK, Baker P, Chou P, Cool C, Coventry S, Cutz E, Davis M, Deutsch G (2006) A protocol for the handling of tissue obtained by operative lung biopsy: recommendations of the chILD pathology co-operative group. Pediatr Dev Pathol 9:173–180
pubmed: 16944976 doi: 10.2350/06-03-0065.1
Barbato A, Bush A, Clement AF, Deterding R, Jaffe A, Griese M (2014) A Delphi consensus of clinician approaches to treatment in children with interstitial lung disease (ChILD). Paper presented at American Thoracic Society International Conference. San Diego, California
Kurland G, Deterding RR, Hagood JS, Young LR, Brody AS, Castile RG, Dell S, Fan LL, Hamvas A, Hilman BC (2013) An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy. Am J Respir Crit Care Med 188:376–394
pubmed: 23905526 pmcid: 3778735 doi: 10.1164/rccm.201305-0923ST
Wert SE, Whitsett JA, Nogee LM (2009) Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol 12:253–274
pubmed: 19220077 pmcid: 2987676 doi: 10.2350/09-01-0586.1
Bruder E, Hofmeister J, Aslanidis C, Hammer J, Bubendorf L, Schmitz G, Rufle A, Bührer C (2007) Ultrastructural and molecular analysis in fatal neonatal interstitial pneumonia caused by a novel ABCA3 mutation. Mod Pathol 20:1009–1018
pubmed: 17660803 doi: 10.1038/modpathol.3800928
Wegner DJ, Hertzberg T, Heins HB, Elmberger G, MacCoss MJ, Carlson CS, Nogee LM, Cole FS, Hamvas A (2007) A major deletion in the surfactant protein-B gene causing lethal respiratory distress. Acta Paediatr 96:516–520
pubmed: 17391469 doi: 10.1111/j.1651-2227.2006.00188.x
Turcu S, Ashton E, Jenkins L, Gupta A, Mok Q (2013) Genetic testing in children with surfactant dysfunction. Arch Dis Child 98:490–495
pubmed: 23625987 doi: 10.1136/archdischild-2012-303166
Gupta A, Zheng SL (2017) Genetic disorders of surfactant protein dysfunction: when to consider and how to investigate. Arch Dis Child 102:84–90
pubmed: 27417306 doi: 10.1136/archdischild-2012-303143
Somaschini M, Presi S, Ferrari M, Vergani B, Carrera P (2018) Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome. J Perinatol 38:337–344
pubmed: 29255193 doi: 10.1038/s41372-017-0018-2
Gower WA, Wert SE, Ginsberg JS, Golan A, Whitsett JA, Nogee LM (2010) Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations. J Pediatr 157:62–68
pubmed: 20304423 doi: 10.1016/j.jpeds.2010.01.010
Henderson LB, Melton K, Wert S, Couriel J, Bush A, Ashworth M, Nogee LM (2013) Large ABCA3 and SFTPC deletions resulting in lung disease. Ann Am Thorac Soc 10:602–607
pubmed: 24024739 pmcid: 3960967 doi: 10.1513/AnnalsATS.201306-170OC
Doan ML, Elidemir O, Dishop MK, Zhang H, Smith EO, Black P, Deterding R, Roberts D, Al-Salmi Q, Fan L (2009) Serum KL-6 differentiates neuroendocrine cell hyperplasia of infancy from the inborn errors of surfactant metabolism. Thorax 64:677–681
pubmed: 19237389 doi: 10.1136/thx.2008.107979
Bush A, Cunningham S, de Blic J, Barbato A, Clement A, Epaud R, Hengst M, Kiper N, Nicholson AG, Wetzke M, Snijders D, Schwerk N, Griese M (2015) European protocols for the diagnosis and initial treatment of interstitial lung disease in children. Thorax 70:1078–1084
pubmed: 26135832 doi: 10.1136/thoraxjnl-2015-207349
Rama JA, Fan LL, Faro A, Elidemir O, Morales DL, Heinle JS, Smith EOB, Hazen ML, Moonnumakal SP, Mallory GB, Schecter MG (2013) Lung transplantation for childhood diffuse lung disease. Pediatr Pulmonol 48:490–496
pubmed: 22949409 doi: 10.1002/ppul.22634
Williamson M, Wallis C (2014)Ten-year follow up of hydroxychloroquine treatment for ABCA3 deficiency. Pediatr Pulmonol 49:299–301
pubmed: 24115460 doi: 10.1002/ppul.22811
Witt S, Szentes B, Bush A, Cunningham S, Kiper N, Lange J, Leidl R, Terheggen-Lagro S, Schwerk N, Snijders D, Griese M, Schwarzkopf L (2018) Medication for childhood interstitial lung diseases differs internationally. Eur Respir J 52:PA634
Breuer O, Schultz A (2018) Side effects of medications used to treat childhood interstitial lung disease. Paediatr Respir Rev 28:68–79
pubmed: 29627169
Marmor MF, Kellner U, Lai TY, Melles RB, Mieler WF (2016) Recommendations on screening for chloroquine and hydroxychloroquine retinopathy (2016 Revision). Ophthalmology 123:1386–1394
pubmed: 26992838 doi: 10.1016/j.ophtha.2016.01.058
Cunningham S, Jaffe A, Young LR (2019) Children’s interstitial and diffuse lung disease. Lancet Child Adolesc Health 3:568–577
pubmed: 31227433 doi: 10.1016/S2352-4642(19)30117-8
Walther FJ, Gordon LM, Waring AJ (2019) Advances in synthetic lung surfactant protein technology. Expert Rev Respir Med 13:499–501
pubmed: 30817233 doi: 10.1080/17476348.2019.1589372
Walther FJ, Gordon LM, Waring AJ (2016) Design of surfactant protein b peptide mimics based on the saposin fold for synthetic lung surfactants. Biomedicine hub 1:1–21
pmcid: 5424708 doi: 10.1159/000451076 pubmed: 5424708
Lai NM, Rajadurai SV, Tan K (2006) Increased energy intake for preterm infants with (or developing) bronchopulmonary dysplasia/chronic lung disease. Cochrane Database Syst Rev
Eldridge WB, Zhang Q, Faro A, Sweet SC, Eghtesady P, Hamvas A, Cole FS, Wambach JA (2017) Outcomes of lung transplantation for infants and children with genetic disorders of surfactant metabolism. J Pediatr 184:157–164.e152
pubmed: 28215425 pmcid: 5443678 doi: 10.1016/j.jpeds.2017.01.017
Elizur A, Faro A, Huddleston C, Gandhi S, White D, Kuklinski C, Sweet S (2009) Lung transplantation in infants and toddlers from 1990 to 2004 at St. Louis Children’s Hospital. Am J Transplant 9:719–726
pubmed: 19344463 doi: 10.1111/j.1600-6143.2009.02552.x
Palomar LM, Nogee LM, Sweet SC, Huddleston CB, Cole FS, Hamvas A (2006)Long-term outcomes after infant lung transplantation for surfactant protein B deficiency related to other causes of respiratory failure. J Pediatr 149:548–553
pubmed: 17011330 doi: 10.1016/j.jpeds.2006.06.004
Faro A, Hamvas A (2008) Lung transplantation for inherited disorders of surfactant metabolism. NeoReviews 9:e468–e476
doi: 10.1542/neo.9-10-e468
Kang MH, van Lieshout LP, Xu L, Domm JM, Vadivel A, Renesme L, Mühlfeld C, Hurskainen M, Mižíková I, Pei Y, van Vloten JP, Thomas SP, Milazzo C, Cyr-Depauw C, Whitsett JA, Nogee LM, Wootton SK, Thébaud B (2020) A lung tropic AAV vector improves survival in a mouse model of surfactant B deficiency. Nat Commun 11:3929
pubmed: 32764559 pmcid: 7414154 doi: 10.1038/s41467-020-17577-8
Leibel SL, Winquist A, Tseu I, Wang J, Luo D, Shojaie S, Nathan N, Snyder E, Post M (2019) Reversal of surfactant protein B deficiency in patient specific human induced pluripotent stem cell derived lung organoids by gene therapy. Sci Rep 9:13450
pubmed: 31530844 pmcid: 6748939 doi: 10.1038/s41598-019-49696-8
Casamento K, Laverty A, Wilsher M, Twiss J, Gabbay E, Glaspole I, Jaffe A, On behalf the Pulmonary Interstitial Vascular Organisational Taskforce of the Lung Foundation A (2016) Assessing the feasibility of a web-based registry for multiple orphan lung diseases: the Australasian Registry Network for Orphan Lung Disease (ARNOLD) experience. Orphanet J Rare Dis 11:42
pubmed: 27090393 pmcid: 4835874 doi: 10.1186/s13023-016-0389-z
Laverty A, Jaffe A, Cunningham S (2008) Establishment of a web-based registry for rare (orphan) pediatric lung diseases in the United Kingdom: the BPOLD registry. Pediatr Pulmonol 43:451–456
pubmed: 18383113 doi: 10.1002/ppul.20783
Deutsch GH, Young LR, Deterding RR, Fan LL, Dell SD, Bean JA, Brody AS, Nogee LM, Trapnell BC, Langston C, Albright EA, Askin FB, Baker P, Chou PM, Cool CM, Coventry SC, Cutz E, Davis MM, Dishop MK, Galambos C, Patterson K, Travis WD, Wert SE, White FV (2007) Diffuse lung disease in young children: application of a novel classification scheme. Am J Respir Crit Care Med 176:1120–1128
pubmed: 17885266 pmcid: 2176101 doi: 10.1164/rccm.200703-393OC
Bush A, Cunningham S, De Blic J, Barbato A, Clement A, Epaud R, Hengst M, Kiper N, Nicholson AG, Wetzke M (2015) European protocols for the diagnosis and initial treatment of interstitial lung disease in children. Thorax 70:1078–1084
pubmed: 26135832 doi: 10.1136/thoraxjnl-2015-207349
Cunningham S, Gilbert C, Schwerk N (2018) The European research collaboration for Children’s Interstitial Lung Disease (ChILDEU) ERS clinical research collaboration. Eur Respiratory Soc
Nathan N, Abou Taam R, Epaud R, Delacourt C, Deschildre A, Reix P, Chiron R, De Pontbriand U, Brouard J, Fayon M (2012) A national internet-linked based database for pediatric interstitial lung diseases: the French network. Orphanet J Rare Dis 7:40
pubmed: 22704798 pmcid: 3458912 doi: 10.1186/1750-1172-7-40
Cunningham S, Jaffe A, Young LR ChILD–children’s interstitial and diffuse lung disease: current state and future potential
Deterding RR, DeBoer EM, Cidon MJ, Robinson TE, Warburton D, Deutsch GH, Young LR (2019) Approaching clinical trials in childhood interstitial lung disease and pediatric pulmonary fibrosis. Am J Respir Crit Care Med 200:1219–1227
pubmed: 31322415 pmcid: 6945798 doi: 10.1164/rccm.201903-0544CI

Auteurs

Jagdev Singh (J)

Department of Respiratory Medicine, The Children's Hospital at Westmead, Sydney, NSW, Australia. jagdev.singh@health.nsw.gov.au.
Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia. jagdev.singh@health.nsw.gov.au.
ORCID: 0000-0002-6162-6483

Adam Jaffe (A)

Department of Respiratory Medicine, Sydney Children's Hospital, Randwick, NSW, Australia.
Faculty of Medicine, School of Women's & Children's Health, University of New South Wales, Sydney, NSW, Australia.

André Schultz (A)

Respiratory Department, Princess Margaret Hospital for Children, Perth, Australia.
School of Paediatric and Child Health, University of Western Australia, Perth, Australia.
Telethon Kids Institute, University of Western Australia, Perth, Australia.

Hiran Selvadurai (H)

Department of Respiratory Medicine, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Transporteurs ABC › Surfactant protein disorders in childhood...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Surfactant protein disorders in childhood...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Surfactant protein disorders in childhood...
questionsmedicales.fr › Appareil respiratoire › Poumon › Surfactant protein disorders in childhood...
questionsmedicales.fr › Maladies de l'appareil respiratoire › Maladies pulmonaires › Pneumopathies interstitielles › Surfactant protein disorders in childhood...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Surfactant protein disorders in childhood...
questionsmedicales.fr › Actions chimiques et utilisations › Actions pharmacologiques › Utilisations thérapeutiques › Agents de l'appareil respiratoire › Surfactants pulmonaires › Surfactant protein disorders in childhood...
questionsmedicales.fr › Actions chimiques et utilisations › Utilisations spécialisées de produits chimiques › Tensioactifs › Surfactant protein disorders in childhood...