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Surfactant Protein Deficiency

MedGen UID:
476151
•Concept ID:
C3274518
•
Disease or Syndrome

Definition

A congenital deficiency of one of the surfactant proteins. [from NCI]

Professional guidelines

PubMed

Skin cancer biology and barriers to treatment: Recent applications of polymeric micro/nanostructures.
Khan NH, Mir M, Qian L, Baloch M, Ali Khan MF, Rehman AU, Ngowi EE, Wu DD, Ji XY
J Adv Res 2022 Feb;36:223-247. Epub 2021 Jun 16 doi: 10.1016/j.jare.2021.06.014. PMID: 35127174Free PMC Article
The changing treatment landscape in haemophilia: from standard half-life clotting factor concentrates to gene editing.
Mancuso ME, Mahlangu JN, Pipe SW
Lancet 2021 Feb 13;397(10274):630-640. Epub 2021 Jan 15 doi: 10.1016/S0140-6736(20)32722-7. PMID: 33460559
Evaluation and management of inherited disorders of surfactant metabolism.
Hamvas A
Chin Med J (Engl) 2010 Oct;123(20):2943-7. PMID: 21034611

Recent clinical studies

Etiology

A case report of inherited surfactant protein deficiency: unknown cause of diffuse infiltrative diseases in Tunisia.
Hamouda S, Ouerfelli R, Trabelsi I, Mrad K, Khalsi F, Boussetta K
Tunis Med 2022 Aug-Sep;100(8-9):652-655. PMID: 36571734Free PMC Article
Surfactant protein disorders in childhood interstitial lung disease.
Singh J, Jaffe A, Schultz A, Selvadurai H
Eur J Pediatr 2021 Sep;180(9):2711-2721. Epub 2021 Apr 11 doi: 10.1007/s00431-021-04066-3. PMID: 33839914
Ten-year follow up of hydroxychloroquine treatment for ABCA3 deficiency.
Williamson M, Wallis C
Pediatr Pulmonol 2014 Mar;49(3):299-301. Epub 2013 Oct 1 doi: 10.1002/ppul.22811. PMID: 24115460
Outcomes of neonates requiring extracorporeal membrane oxygenation for irreversible pulmonary dysplasia: the Extracorporeal Life Support Registry experience.
Lazar DA, Olutoye OO, Cass DL, Fernandes CJ, Welty SE, Johnson KE, Rycus PT, Lee TC
Pediatr Crit Care Med 2012 Mar;13(2):188-90. doi: 10.1097/PCC.0b013e3182231060. PMID: 21666536

Diagnosis

Variable Expression of Lung Disease Due to a Novel Homozygous ABCA3 Variant.
Hamouda S, de Becdelièvre A, Ben Ameur S, Trabelsi I, Fabre M, Epaud R, Fanen P, Boussetta K
Pediatr Allergy Immunol Pulmonol 2022 Sep;35(3):124-128. doi: 10.1089/ped.2022.0023. PMID: 36121785
Whole exome sequencing identifies a novel variant in ABCA3 in an individual with fatal congenital surfactant protein deficiency.
Bozkurt HB, Şahin Y
Turk J Pediatr 2021;63(4):703-707. doi: 10.24953/turkjped.2021.04.019. PMID: 34449154
Surfactant protein disorders in childhood interstitial lung disease.
Singh J, Jaffe A, Schultz A, Selvadurai H
Eur J Pediatr 2021 Sep;180(9):2711-2721. Epub 2021 Apr 11 doi: 10.1007/s00431-021-04066-3. PMID: 33839914
Surfactant protein deficiency in familial interstitial lung disease.
Amin RS, Wert SE, Baughman RP, Tomashefski JF Jr, Nogee LM, Brody AS, Hull WM, Whitsett JA
J Pediatr 2001 Jul;139(1):85-92. doi: 10.1067/mpd.2001.114545. PMID: 11445799
Congenital and pediatric interstitial disease.
Bush A, du Bois R
Curr Opin Pulm Med 1996 Sep;2(5):347-56. doi: 10.1097/00063198-199609000-00002. PMID: 9363167

Therapy

Variable Expression of Lung Disease Due to a Novel Homozygous ABCA3 Variant.
Hamouda S, de Becdelièvre A, Ben Ameur S, Trabelsi I, Fabre M, Epaud R, Fanen P, Boussetta K
Pediatr Allergy Immunol Pulmonol 2022 Sep;35(3):124-128. doi: 10.1089/ped.2022.0023. PMID: 36121785
Ten-year follow up of hydroxychloroquine treatment for ABCA3 deficiency.
Williamson M, Wallis C
Pediatr Pulmonol 2014 Mar;49(3):299-301. Epub 2013 Oct 1 doi: 10.1002/ppul.22811. PMID: 24115460

Prognosis

A case report of inherited surfactant protein deficiency: unknown cause of diffuse infiltrative diseases in Tunisia.
Hamouda S, Ouerfelli R, Trabelsi I, Mrad K, Khalsi F, Boussetta K
Tunis Med 2022 Aug-Sep;100(8-9):652-655. PMID: 36571734Free PMC Article
Ten-year follow up of hydroxychloroquine treatment for ABCA3 deficiency.
Williamson M, Wallis C
Pediatr Pulmonol 2014 Mar;49(3):299-301. Epub 2013 Oct 1 doi: 10.1002/ppul.22811. PMID: 24115460
Outcomes of neonates requiring extracorporeal membrane oxygenation for irreversible pulmonary dysplasia: the Extracorporeal Life Support Registry experience.
Lazar DA, Olutoye OO, Cass DL, Fernandes CJ, Welty SE, Johnson KE, Rycus PT, Lee TC
Pediatr Crit Care Med 2012 Mar;13(2):188-90. doi: 10.1097/PCC.0b013e3182231060. PMID: 21666536
Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report.
Ciantelli M, Ghirri P, Presi S, Sigali E, Vuerich M, Somaschini M, Ferrari M, Boldrini A, Carrera P
J Perinatol 2011 Jan;31(1):70-2. doi: 10.1038/jp.2010.122. PMID: 21189475
Surfactant protein B deficiency: insights into surfactant function through clinical surfactant protein deficiency.
Thompson MW
Am J Med Sci 2001 Jan;321(1):26-32. doi: 10.1097/00000441-200101000-00005. PMID: 11202476

Clinical prediction guides

Outcomes of neonates requiring extracorporeal membrane oxygenation for irreversible pulmonary dysplasia: the Extracorporeal Life Support Registry experience.
Lazar DA, Olutoye OO, Cass DL, Fernandes CJ, Welty SE, Johnson KE, Rycus PT, Lee TC
Pediatr Crit Care Med 2012 Mar;13(2):188-90. doi: 10.1097/PCC.0b013e3182231060. PMID: 21666536

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