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Surfactant Protein C Deficiency

MedGen UID:
476152
•Concept ID:
C3274519
•
Disease or Syndrome

Definition

Deficiency of surfactant protein C. It leads to progressive lung fibrosis. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSurfactant Protein C Deficiency

Professional guidelines

PubMed

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.
Kröner C, Reu S, Teusch V, Schams A, Grimmelt AC, 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
Eur Respir J 2015 Jul;46(1):197-206. Epub 2015 Feb 5 doi: 10.1183/09031936.00129414. PMID: 25657025

Recent clinical studies

Etiology

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.
Kröner C, Reu S, Teusch V, Schams A, Grimmelt AC, 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
Eur Respir J 2015 Jul;46(1):197-206. Epub 2015 Feb 5 doi: 10.1183/09031936.00129414. PMID: 25657025
Lung transplantation in young infants with interstitial pneumonia.
Moreno A, Maestre J, Balcells J, Marhuenda C, Cobos N, Roman A, Soler J, Montferrer N, Liñan S, Gartner S, Roqueta J, Majo J
Transplant Proc 2003 Aug;35(5):1951-3. doi: 10.1016/s0041-1345(03)00665-1. PMID: 12962860

Diagnosis

Surfactant Protein C Deficiency in the Neonate.
Ehler J, Terpe F, Chao CM
Dtsch Arztebl Int 2022 Sep 23;119(38):646. doi: 10.3238/arztebl.m2022.0158. PMID: 36519344Free PMC Article
Infant pulmonary function testing in chronic pneumonitis of infancy due to surfactant protein C mutation.
Hevroni A, Goldman A, Springer C
Pediatr Pulmonol 2015 Jun;50(6):E17-23. Epub 2015 Mar 9 doi: 10.1002/ppul.23166. PMID: 25755194
Life-threatening, giant pneumatoceles in the course of surfactant protein C deficiency.
Sismanlar T, Aslan AT, Griese M
Pediatr Pulmonol 2015 Jul;50(7):E25-8. Epub 2015 Feb 9 doi: 10.1002/ppul.23162. PMID: 25677123
Survival of an infant with homozygous surfactant protein C (SFTPC) mutation.
Arıkan-Ayyıldız Z, Caglayan-Sozmen S, Isık S, Deterding R, Dishop MK, Couderc R, Epaud R, Louha M, Uzuner N
Pediatr Pulmonol 2014 Mar;49(3):E112-5. Epub 2013 Dec 17 doi: 10.1002/ppul.22976. PMID: 24347240

Therapy

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.
Kröner C, Reu S, Teusch V, Schams A, Grimmelt AC, 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
Eur Respir J 2015 Jul;46(1):197-206. Epub 2015 Feb 5 doi: 10.1183/09031936.00129414. PMID: 25657025
Survival of an infant with homozygous surfactant protein C (SFTPC) mutation.
Arıkan-Ayyıldız Z, Caglayan-Sozmen S, Isık S, Deterding R, Dishop MK, Couderc R, Epaud R, Louha M, Uzuner N
Pediatr Pulmonol 2014 Mar;49(3):E112-5. Epub 2013 Dec 17 doi: 10.1002/ppul.22976. PMID: 24347240
Is treatment with hydroxychloroquine effective in surfactant protein C deficiency?
Rabach I, Poli F, Zennaro F, Germani C, Ventura A, Barbi E
Arch Bronconeumol 2013 May;49(5):213-5. Epub 2012 Nov 6 doi: 10.1016/j.arbres.2012.08.005. PMID: 23137777

Prognosis

Life-threatening, giant pneumatoceles in the course of surfactant protein C deficiency.
Sismanlar T, Aslan AT, Griese M
Pediatr Pulmonol 2015 Jul;50(7):E25-8. Epub 2015 Feb 9 doi: 10.1002/ppul.23162. PMID: 25677123
Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.
Kröner C, Reu S, Teusch V, Schams A, Grimmelt AC, 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
Eur Respir J 2015 Jul;46(1):197-206. Epub 2015 Feb 5 doi: 10.1183/09031936.00129414. PMID: 25657025
Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress.
van Hoorn J, Brouwers A, Griese M, Kramer B
BMJ Case Rep 2014 Mar 19;2014 doi: 10.1136/bcr-2013-203053. PMID: 24648475Free PMC Article
Lung transplantation in young infants with interstitial pneumonia.
Moreno A, Maestre J, Balcells J, Marhuenda C, Cobos N, Roman A, Soler J, Montferrer N, Liñan S, Gartner S, Roqueta J, Majo J
Transplant Proc 2003 Aug;35(5):1951-3. doi: 10.1016/s0041-1345(03)00665-1. PMID: 12962860

Clinical prediction guides

Life-threatening, giant pneumatoceles in the course of surfactant protein C deficiency.
Sismanlar T, Aslan AT, Griese M
Pediatr Pulmonol 2015 Jul;50(7):E25-8. Epub 2015 Feb 9 doi: 10.1002/ppul.23162. PMID: 25677123
Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.
Kröner C, Reu S, Teusch V, Schams A, Grimmelt AC, 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
Eur Respir J 2015 Jul;46(1):197-206. Epub 2015 Feb 5 doi: 10.1183/09031936.00129414. PMID: 25657025

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