Congenital Pulmonary Alveolar Proteinosis
This is a list of articles published in the scientific and medical literature. Please note the following: (1) articles are arranged in reverse chronological order; (2) the list is by no means exhaustive but represents key articles; (3) references are provided for educational purposes only and are not intended to replace medical advice regarding diagnosis or treatment of PAP.
Most articles can be viewed directly by clicking on the underlined URL hyperlink (blue underlined text) below each citation. In most cases, you will be directed to a web page containing the abstract of the report. Some articles will then have another link termed ‘Full Text’ which will open a web-site containing the full length article. Those without a ‘Full Text’ link will provide the article’s standard citation allowing it to be accessed by other means.
[Congenital pulmonary alveolar proteinosis: a case report]
Pissarra S, Rocha G, Acevedo I and Guimaraes H
Acta Med Port 2005;18:163-8
The genetics of neonatal respiratory disease
Clark H and Clark LS
Semin Fetal Neonatal Med 2005;10:271-82
[Autoantibody against granulocyte-macrophage colony-stimulating factor and other serum markers in pulmonary alveolar proteinosis]
Xu KF, Chen Y, Guo ZJ and Zhu YJ
Zhonghua Jie He He Hu Xi Za Zhi 2004;27:824-8
Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease
Tredano M, Griese M, Brasch F, Schumacher S, de Blic J, Marque S, Houdayer C, Elion J, Couderc R and Bahuau M
Am J Med Genet A 2004;126:18-26
Rare infiltrative lung diseases: a challenge for clinicians
Poletti V, Costabel U, Casoni GL, Bigliazzi C, Drent M and Olivieri D
Respiration 2004;71:431-43
Congenital alveolar proteinosis
Kattan AK, Bulagannawar PS and Malik IH
Saudi Med J 2004;25:1474-7
Inherited interstitial lung disease
Garcia CK and Raghu G
Clin Chest Med 2004;25:421-33, v
Pulmonary pathology
deMello DE
Semin Neonatol 2004;9:311-29
[Classification of pulmonary alveolar proteinosis in newborns, infants, and children]
Brasch F and Muller KM
Pathologe 2004;25:299-309
Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB
Tredano M, Griese M, de Blic J, Lorant T, Houdayer C, Schumacher S, Cartault F, Capron F, Boccon-Gibod L, Lacaze-Masmonteil T, Renolleau S, Delaisi B, Elion J, Couderc R and Bahuau M
Am J Med Genet A 2003;119:324-39
[Pulmonary alveolar proteinosis]
Floarea-Strat A, Stanciu A and Creteanu M
Rev Med Chir Soc Med Nat Iasi 2003;107:518-23
Pulmonary alveolar proteinosis: progress in the first 44 years
Seymour JF and Presneill JJ
Am J Respir Crit Care Med 2002;166:215-35
[Pulmonary alveolar proteinosis and its treatment with total pulmonary lavage in the Czech Republic]
Jansa P, Stritesky M and Homolka J
Vnitr Lek 2002;48:34-7
A mutation in the surfactant protein C gene associated with familial interstitial lung disease
Nogee LM, Dunbar AE, 3rd, Wert SE, Askin F, Hamvas A and Whitsett JA
N Engl J Med 2001;344:573-9
[Clinical, biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism: SP-B deficiency and alveolar proteinosis]
Tredano M, Blic JD, Griese M, Fournet JC, Elion J and Bahuau M
Ann Biol Clin (Paris) 2001;59:131-48
Congenital surfactant protein B deficiency--emphasis on imaging
Newman B, Kuhn JP, Kramer SS and Carcillo JA
Pediatr Radiol 2001;31:327-31
Focal congenital alveolar proteinosis associated with abnormal surfactant protein B messenger RNA
Mildenberger E, deMello DE, Lin Z, Kossel H, Hoehn T and Versmold HT
Chest 2001;119:645-7
Pulmonary alveolar proteinosis: a review
deMello DE and Lin Z
Pediatr Pathol Mol Med 2001;20:413-32
[Constitutional deficiency of pulmonary surfactant protein B: clinical presentation, histologic and molecular diagnosis]
Tredano M, Cneude F, Denamur E, Truffert P, Capron F, Manouvrier S, Feldmann D, Couderc R, Elion J and Lacaze-Masmonteil T
Arch Pediatr 2000;7:641-4
Aberrant SP-B mRNA in lung tissue of patients with congenital alveolar proteinosis (CAP)
Lin Z, deMello DE, Batanian JR, Khammash HM, DiAngelo S, Luo J and Floros J
Clin Genet 2000;57:359-69
Computed tomography of diffuse interstitial lung disease in children
Koh DM and Hansell DM
Clin Radiol 2000;55:659-67
Serological diagnosis of idiopathic pulmonary alveolar proteinosis
Kitamura T, Uchida K, Tanaka N, Tsuchiya T, Watanabe J, Yamada Y, Hanaoka K, Seymour JF, Schoch OD, Doyle I, Inoue Y, Sakatani M, Kudoh S, Azuma A, Nukiwa T, Tomita T, Katagiri M, Fujita A, Kurashima A, Kanegasaki S and Nakata K
Am J Respir Crit Care Med 2000;162:658-62
Diagnostic accuracy of thin-section CT and chest radiography of pediatric interstitial lung disease
Copley SJ, Coren M, Nicholson AG, Rubens MB, Bush A and Hansell DM
AJR Am J Roentgenol 2000;174:549-54
Normal lung function in subjects heterozygous for surfactant protein-B deficiency
Yusen RD, Cohen AH and Hamvas A
Am J Respir Crit Care Med 1999;159:411-4
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9927351
Surfactant protein B deficiency: clinical, histological and molecular evaluation
Williams GD, Christodoulou J, Stack J, Symons P, Wert SE, Murrell MJ and Nogee LM
J Paediatr Child Health 1999;35:214-20
Congenital alveolar proteinosis caused by a novel mutation of the surfactant protein B gene and misalignment of lung vessels in consanguineous kindred infants
Wallot M, Wagenvoort C, deMello D, Muller KM, Floros J and Roll C
Eur J Pediatr 1999;158:513-8
Pulmonary alveolar proteinosis in infants
Sakai Y, Abo W, Yoshimura H, Sano H, Kuroki Y, Satoh M and Kaimori M
Eur J Pediatr 1999;158:424-6
Imaging of medical disease of the newborn lung
Newman B
Radiol Clin North Am 1999;37:1049-65
An alternatively spliced surfactant protein B mRNA in normal human lung: disease implication
Lin Z, Wang G, Demello DE and Floros J
Biochem J 1999;343 Pt 1:145-9
Idiopathic pulmonary alveolar proteinosis as an autoimmune disease with neutralizing antibody against granulocyte/macrophage colony-stimulating factor
Kitamura T, Tanaka N, Watanabe J, Uchida, Kanegasaki S, Yamada Y and Nakata K
J Exp Med 1999;190:875-80
Molecular confirmation retrospectively of a diagnosis of surfactant protein B deficiency
Gattas M, Harvey P and Adsett D
J Paediatr Child Health 1999;35:592-3
Fanconi anemia and beta c deficiency-associated pulmonary alveolar proteinosis as two hereditary diseases of childhood which are potentially curable by stem cell gene therapy but require different therapeutic approaches
Dirksen U, Moritz T, Burdach S, Flasshove M and Hanenberg H
Klin Padiatr 1999;211:329-35
Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency)
Stuhrmann M, Bohnhorst B, Peters U, Bohle RM, Poets CF and Schmidtke J
Prenat Diagn 1998;18:953-5
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9793979
Attenuated hematopoietic response to granulocyte-macrophage colony-stimulating factor in patients with acquired pulmonary alveolar proteinosis
Seymour JF, Begley CG, Dirksen U, Presneill JJ, Nicola NA, Moore PE, Schoch OD, van Asperen P, Roth B, Burdach S and Dunn AR
Blood 1998;92:2657-67
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9763547
An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4
Lin Z, deMello DE, Wallot M and Floros J
Mol Genet Metab 1998;64:25-35
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9682215
Surfactant proteins: molecular genetics of neonatal pulmonary diseases
Floros J and Kala P
Annu Rev Physiol 1998;60:365-84
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Pulmonary alveolar proteinosis in an HIV-infected child
Nachajon RV, Rutstein RM, Rudy BJ and Collins MH
Pediatr Pulmonol 1997;24:292-5
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9368264
Inherited surfactant protein-B deficiency
Hamvas A
Adv Pediatr 1997;44:369-88
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9265976
Surfactant protein B deficiency: insights into inherited disorders of lung cell metabolism
Hamvas A
Curr Probl Pediatr 1997;27:325-45
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9416428
Human pulmonary alveolar proteinosis associated with a defect in GM-CSF/IL-3/IL-5 receptor common beta chain expression
Dirksen U, Nishinakamura R, Groneck P, Hattenhorst U, Nogee L, Murray R and Burdach S
J Clin Invest 1997;100:2211-7
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Congenital alveolar proteinosis in the Netherlands: a report of five cases with immunohistochemical and genetic studies on surfactant apoproteins
de la Fuente AA, Voorhout WF and deMello DE
Pediatr Pathol Lab Med 1997;17:221-31
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9086529
The pulmonary alveolar proteinosis in granulocyte macrophage colony-stimulating factor/interleukins 3/5 beta c receptor-deficient mice is reversed by bone marrow transplantation
Nishinakamura R, Wiler R, Dirksen U, Morikawa Y, Arai K, Miyajima A, Burdach S and Murray R
J Exp Med 1996;183:2657-62
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=8676086
[Neonatal pulmonary alveolar proteinosis and SP-B deficiency: pulmonary surfactant at the time of molecular pathology]
Lacaze-Masmonteil T, Feldmann D, Walti H and Bourbon J
Arch Pediatr 1996;3:309-12
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In vitro and in vivo transfer and expression of human surfactant SP-A- and SP-B-associated protein cDNAs mediated by replication-deficient, recombinant adenoviral vectors
Korst RJ, Bewig B and Crystal RG
Hum Gene Ther 1995;6:277-87
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Molecular and cellular pathobiology of pulmonary surfactant protein B deficiency
Colten HR
Proc Assoc Am Physicians 1995;107:334-9
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Surfactant apoprotein B deficiency
Chetcuti PA and Ball RJ
Arch Dis Child Fetal Neonatal Ed 1995;73:F125-7
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A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds
Nogee LM, Garnier G, Dietz HC, Singer L, Murphy AM, deMello DE and Colten HR
J Clin Invest 1994;93:1860-3
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=8163685
[The pulmonary surfactant factor. Current knowledge, research trends and use in clinical practice]
Javorka K and Calkovska A
Bratisl Lek Listy 1994;95:452-6
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=7882059
Surfactant protein B deficiency: antenatal diagnosis and prospective treatment with surfactant replacement
Hamvas A, Cole FS, deMello DE, Moxley M, Whitsett JA, Colten HR and Nogee LM
J Pediatr 1994;125:356-61
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Molecular and phenotypic variability in the congenital alveolar proteinosis syndrome associated with inherited surfactant protein B deficiency
deMello DE, Nogee LM, Heyman S, Krous HF, Hussain M, Merritt TA, Hsueh W, Haas JE, Heidelberger K, Schumacher R and et al.
J Pediatr 1994;125:43-50
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Ultrastructure of lung in surfactant protein B deficiency
deMello DE, Heyman S, Phelps DS, Hamvas A, Nogee L, Cole S and Colten HR
Am J Respir Cell Mol Biol 1994;11:230-9
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Treatment of congenital alveolar proteinosis
Spock A
J Pediatr 1993;123:495-6
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=8355136
Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis
Nogee LM, de Mello DE, Dehner LP and Colten HR
N Engl J Med 1993;328:406-10
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Surfactant protein B deficiency: radiographic manifestations
Herman TE, Nogee LM, McAlister WH and Dehner LP
Pediatr Radiol 1993;23:373-5
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Congenital pulmonary alveolar proteinosis: failure of treatment with extracorporeal life support
Moulton SL, Krous HF, Merritt TA, Odell RM, Gangitano E and Cornish JD
J Pediatr 1992;120:297-302
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Glutaric aciduria type II: autopsy study of a case with electron-transferring flavoprotein dehydrogenase deficiency
Kamiya M, Eimoto T, Kishimoto H, Tsudzuki T, Morishita H, Wada Y, Wakabayashi T, Hashimoto T, Goodman SI, Frerman FE and et al.
Pediatr Pathol 1990;10:1007-19
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Pulmonary alveolar proteinosis in four siblings
Teja K, Cooper PH, Squires JE and Schnatterly PT
N Engl J Med 1981;305:1390-2
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