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Surfactant metabolism dysfunction, pulmonary, 5(SMDP5)

MedGen UID:
482204
Concept ID:
C3280574
Disease or Syndrome
Synonyms: CSF2RB DEFICIENCY; PAP DUE TO CSF2RB DEFICIENCY; PULMONARY ALVEOLAR PROTEINOSIS 5; SMDP5
 
Gene (location): CSF2RB (22q12.3)
 
Monarch Initiative: MONDO:0013712
OMIM®: 614370

Definition

Pulmonary surfactant metabolism dysfunction-5 (SMDP5) is an autosomal recessive lung disorder manifest clinically and pathologically as pulmonary alveolar proteinosis (PAP). PAP is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages. This results in the accumulation of surfactant-derived lipoproteinaceous material in the alveoli and terminal bronchioles, causing respiratory failure (summary by Greenhill and Kotton, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120). [from OMIM]

Additional description

From MedlinePlus Genetics
Less severe forms of surfactant dysfunction cause gradual onset of breathing problems in children or adults. Signs and symptoms of these milder forms are abnormally rapid breathing (tachypnea); low concentrations of oxygen in the blood (hypoxemia); and an inability to grow or gain weight at the expected rate (failure to thrive).

The signs and symptoms of surfactant dysfunction can vary in severity. The most severe form of this condition causes respiratory distress syndrome in newborns. Affected babies have extreme difficulty breathing and are unable to get enough oxygen. The lack of oxygen can damage the baby's brain and other organs. This syndrome leads to respiratory failure, and most babies with this form of the condition do not survive more than a few months.

There are several types of surfactant dysfunction, which are identified by the genetic cause of the condition. One type, called SP-B deficiency, causes respiratory distress syndrome in newborns. Other types, known as SP-C dysfunction and ABCA3 deficiency, have signs and symptoms that range from mild to severe.

Surfactant dysfunction is a lung disorder that causes breathing problems. This condition results from abnormalities in the composition or function of surfactant, a mixture of certain fats (called phospholipids) and proteins that lines the lung tissue and makes breathing easy. Without normal surfactant, the tissue surrounding the air sacs in the lungs (the alveoli) sticks together (because of a force called surface tension) after exhalation, causing the alveoli to collapse. As a result, filling the lungs with air on each breath becomes very difficult, and the delivery of oxygen to the body is impaired.  https://medlineplus.gov/genetics/condition/surfactant-dysfunction

Clinical features

From HPO
Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Respiratory insufficiency
MedGen UID:
11197
Concept ID:
C0035229
Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Exertional dyspnea
MedGen UID:
68549
Concept ID:
C0231807
Sign or Symptom
Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.
Pulmonary alveolar proteinosis
MedGen UID:
1763046
Concept ID:
C5400698
Finding
Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.
Ground-glass opacification
MedGen UID:
1779663
Concept ID:
C5539411
Finding
On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.
Interlobular septal thickening
MedGen UID:
1779791
Concept ID:
C5539418
Finding
Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.
Anti-granulocyte-macrophage colony stimulating factor antibody positivity
MedGen UID:
1640956
Concept ID:
C4703382
Finding
The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.

Professional guidelines

PubMed

Liu L, Deng Q
Contrast Media Mol Imaging 2022;2022:4166994. Epub 2022 Oct 3 doi: 10.1155/2022/4166994. PMID: 36262981Free PMC Article
Lakshminrusimha S, Konduri GG, Steinhorn RH
J Perinatol 2016 Jun;36 Suppl 2:S12-9. doi: 10.1038/jp.2016.44. PMID: 27225960
Huizar I, Kavuru MS
Curr Opin Pulm Med 2009 Sep;15(5):491-8. doi: 10.1097/MCP.0b013e32832ea51c. PMID: 19561506

Recent clinical studies

Etiology

Trapnell BC, Inoue Y, Bonella F, Morgan C, Jouneau S, Bendstrup E, Campo I, Papiris SA, Yamaguchi E, Cetinkaya E, Ilkovich MM, Kramer MR, Veltkamp M, Kreuter M, Baba T, Ganslandt C, Tarnow I, Waterer G, Jouhikainen T; IMPALA Trial Investigators
N Engl J Med 2020 Oct 22;383(17):1635-1644. Epub 2020 Sep 7 doi: 10.1056/NEJMoa1913590. PMID: 32897035Free PMC Article
Trapnell BC, Nakata K, Bonella F, Campo I, Griese M, Hamilton J, Wang T, Morgan C, Cottin V, McCarthy C
Nat Rev Dis Primers 2019 Mar 7;5(1):16. doi: 10.1038/s41572-019-0066-3. PMID: 30846703
Shekar K, Davies AR, Mullany DV, Tiruvoipati R, Fraser JF
J Crit Care 2013 Oct;28(5):655-62. Epub 2013 Jul 2 doi: 10.1016/j.jcrc.2013.04.009. PMID: 23827735
Hayes D Jr, Feola DJ, Murphy BS, Shook LA, Ballard HO
Respiration 2010;79(5):425-36. Epub 2009 Sep 25 doi: 10.1159/000242497. PMID: 19786727
Brower RG, Lanken PN, MacIntyre N, Matthay MA, Morris A, Ancukiewicz M, Schoenfeld D, Thompson BT; National Heart, Lung, and Blood Institute ARDS Clinical Trials Network
N Engl J Med 2004 Jul 22;351(4):327-36. doi: 10.1056/NEJMoa032193. PMID: 15269312

Diagnosis

Trapnell BC, Nakata K, Bonella F, Campo I, Griese M, Hamilton J, Wang T, Morgan C, Cottin V, McCarthy C
Nat Rev Dis Primers 2019 Mar 7;5(1):16. doi: 10.1038/s41572-019-0066-3. PMID: 30846703
Gunasekara L, Al-Saiedy M, Green F, Pratt R, Bjornson C, Yang A, Michael Schoel W, Mitchell I, Brindle M, Montgomery M, Keys E, Dennis J, Shrestha G, Amrein M
J Cyst Fibros 2017 Sep;16(5):565-572. Epub 2017 Jun 7 doi: 10.1016/j.jcf.2017.04.015. PMID: 28599957
Wang T, Lazar CA, Fishbein MC, Lynch JP 3rd
Semin Respir Crit Care Med 2012 Oct;33(5):498-508. Epub 2012 Sep 21 doi: 10.1055/s-0032-1325160. PMID: 23001804
Huizar I, Kavuru MS
Curr Opin Pulm Med 2009 Sep;15(5):491-8. doi: 10.1097/MCP.0b013e32832ea51c. PMID: 19561506
Bush A, du Bois R
Curr Opin Pulm Med 1996 Sep;2(5):347-56. doi: 10.1097/00063198-199609000-00002. PMID: 9363167

Therapy

Trapnell BC, Inoue Y, Bonella F, Morgan C, Jouneau S, Bendstrup E, Campo I, Papiris SA, Yamaguchi E, Cetinkaya E, Ilkovich MM, Kramer MR, Veltkamp M, Kreuter M, Baba T, Ganslandt C, Tarnow I, Waterer G, Jouhikainen T; IMPALA Trial Investigators
N Engl J Med 2020 Oct 22;383(17):1635-1644. Epub 2020 Sep 7 doi: 10.1056/NEJMoa1913590. PMID: 32897035Free PMC Article
Wang T, Lazar CA, Fishbein MC, Lynch JP 3rd
Semin Respir Crit Care Med 2012 Oct;33(5):498-508. Epub 2012 Sep 21 doi: 10.1055/s-0032-1325160. PMID: 23001804
Hayes D Jr, Feola DJ, Murphy BS, Shook LA, Ballard HO
Respiration 2010;79(5):425-36. Epub 2009 Sep 25 doi: 10.1159/000242497. PMID: 19786727
Huizar I, Kavuru MS
Curr Opin Pulm Med 2009 Sep;15(5):491-8. doi: 10.1097/MCP.0b013e32832ea51c. PMID: 19561506
Brower RG, Lanken PN, MacIntyre N, Matthay MA, Morris A, Ancukiewicz M, Schoenfeld D, Thompson BT; National Heart, Lung, and Blood Institute ARDS Clinical Trials Network
N Engl J Med 2004 Jul 22;351(4):327-36. doi: 10.1056/NEJMoa032193. PMID: 15269312

Prognosis

De Luca D, Arroyo R, Foligno S, Autilio C, Touqui L, Kingma PS
Am J Physiol Lung Cell Mol Physiol 2023 Oct 1;325(4):L411-L418. Epub 2023 Jul 25 doi: 10.1152/ajplung.00079.2023. PMID: 37489844
Peca D, Cutrera R, Masotti A, Boldrini R, Danhaive O
Biochem Soc Trans 2015 Oct;43(5):913-9. doi: 10.1042/BST20150100. PMID: 26517903
Wang T, Lazar CA, Fishbein MC, Lynch JP 3rd
Semin Respir Crit Care Med 2012 Oct;33(5):498-508. Epub 2012 Sep 21 doi: 10.1055/s-0032-1325160. PMID: 23001804
Griese M, Essl R, Schmidt R, Rietschel E, Ratjen F, Ballmann M, Paul K; BEAT Study Group
Am J Respir Crit Care Med 2004 Nov 1;170(9):1000-5. Epub 2004 Jul 21 doi: 10.1164/rccm.200405-575OC. PMID: 15271694
Brower RG, Lanken PN, MacIntyre N, Matthay MA, Morris A, Ancukiewicz M, Schoenfeld D, Thompson BT; National Heart, Lung, and Blood Institute ARDS Clinical Trials Network
N Engl J Med 2004 Jul 22;351(4):327-36. doi: 10.1056/NEJMoa032193. PMID: 15269312

Clinical prediction guides

Trapnell BC, Inoue Y, Bonella F, Morgan C, Jouneau S, Bendstrup E, Campo I, Papiris SA, Yamaguchi E, Cetinkaya E, Ilkovich MM, Kramer MR, Veltkamp M, Kreuter M, Baba T, Ganslandt C, Tarnow I, Waterer G, Jouhikainen T; IMPALA Trial Investigators
N Engl J Med 2020 Oct 22;383(17):1635-1644. Epub 2020 Sep 7 doi: 10.1056/NEJMoa1913590. PMID: 32897035Free PMC Article
Rao X, Zhong J, Brook RD, Rajagopalan S
Antioxid Redox Signal 2018 Mar 20;28(9):797-818. Epub 2017 Dec 12 doi: 10.1089/ars.2017.7394. PMID: 29084451Free PMC Article
Mokra D, Drgova A, Kopincova J, Pullmann R, Calkovska A
Adv Exp Med Biol 2013;756:189-96. doi: 10.1007/978-94-007-4549-0_24. PMID: 22836635
Martinez-Moczygemba M, Huston DP
Curr Allergy Asthma Rep 2010 Sep;10(5):320-5. doi: 10.1007/s11882-010-0134-y. PMID: 20623372
Brower RG, Lanken PN, MacIntyre N, Matthay MA, Morris A, Ancukiewicz M, Schoenfeld D, Thompson BT; National Heart, Lung, and Blood Institute ARDS Clinical Trials Network
N Engl J Med 2004 Jul 22;351(4):327-36. doi: 10.1056/NEJMoa032193. PMID: 15269312

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