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Absent bronchoalveolar surfactant-protein C

MedGen UID:: 1714480
•Concept ID:: C5397972
•: Finding

HPO:	HP:0032980

Definition

Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbsent bronchoalveolar surfactant-protein C

Abnormality of the respiratory system
- Abnormal respiratory system physiology
  - Abnormal respiratory system morphology
    - Abnormality of the lung
      - Abnormal bronchoalveolar lavage fluid morphology
        Abnormal bronchoalveolar fluid protein level
        Absent bronchoalveolar surfactant-protein C

Conditions with this feature

Interstitial lung disease due to ABCA3 deficiency

MedGen UID:: 410074
•Concept ID:: C1970456
•: Disease or Syndrome

For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).

See: Condition Record

Surfactant metabolism dysfunction, pulmonary, 2

MedGen UID:: 410078
•Concept ID:: C1970470
•: Disease or Syndrome

Pulmonary surfactant metabolism dysfunction-2 (SMDP2) is a rare autosomal dominant disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course. The pathophysiology of the disorder is postulated to involve intracellular accumulation of a structurally defective SPC protein (Thomas et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).

See: Condition Record

Interstitial lung disease due to ABCA3 deficiency

Surfactant metabolism dysfunction, pulmonary, 2

Recent clinical studies

Diagnosis

Surfactant proteins in pediatric interstitial lung disease.

Griese M, Lorenz E, Hengst M, Schams A, Wesselak T, Rauch D, Wittmann T, Kirchberger V, Escribano A, Schaible T, Baden W, Schulze J, Krude H, Aslanidis C, Schwerk N, Kappler M, Hartl D, Lohse P, Zarbock R
Pediatr Res 2016 Jan;79(1-1):34-41. Epub 2015 Sep 16 doi: 10.1038/pr.2015.173. PMID: 26375475

Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency.

Brasch F, Schimanski S, Mühlfeld C, Barlage S, Langmann T, Aslanidis C, Boettcher A, Dada A, Schroten H, Mildenberger E, Prueter E, Ballmann M, Ochs M, Johnen G, Griese M, Schmitz G
Am J Respir Crit Care Med 2006 Sep 1;174(5):571-80. Epub 2006 May 25 doi: 10.1164/rccm.200509-1535OC. PMID: 16728712

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

Surfactant protein B deficiency: antenatal diagnosis and prospective treatment with surfactant replacement.

Hamvas A, Cole FS, deMello DE, Moxley M, Whitsett JA, Colten HR, Nogee LM
J Pediatr 1994 Sep;125(3):356-61. doi: 10.1016/s0022-3476(05)83276-7. PMID: 8071741

See all (4)

Therapy

Surfactant protein B deficiency: antenatal diagnosis and prospective treatment with surfactant replacement.

Hamvas A, Cole FS, deMello DE, Moxley M, Whitsett JA, Colten HR, Nogee LM
J Pediatr 1994 Sep;125(3):356-61. doi: 10.1016/s0022-3476(05)83276-7. PMID: 8071741

See all (1)

Prognosis

Surfactant protein B deficiency: antenatal diagnosis and prospective treatment with surfactant replacement.

Hamvas A, Cole FS, deMello DE, Moxley M, Whitsett JA, Colten HR, Nogee LM
J Pediatr 1994 Sep;125(3):356-61. doi: 10.1016/s0022-3476(05)83276-7. PMID: 8071741

See all (1)

Clinical prediction guides

Surfactant proteins in pediatric interstitial lung disease.

See all (1)

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Absent bronchoalveolar surfactant-protein C

Definition

Term Hierarchy

Conditions with this feature

Recent clinical studies

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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