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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
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): CSF2RB (22q12.3)
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 GTR]

Additional descriptions

From OMIM
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).  http://www.omim.org/entry/614370
From GHR
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.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.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).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.  https://ghr.nlm.nih.gov/condition/surfactant-dysfunction

Clinical features

Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing.
Pulmonary alveolar proteinosis
MedGen UID:
18760
Concept ID:
C0034050
Disease or Syndrome
A PULMONARY ALVEOLI-filling disease, characterized by dense phospholipoproteinaceous deposits in the alveoli, cough, and DYSPNEA. This disease is often related to, congenital or acquired, impaired processing of PULMONARY SURFACTANTS by alveolar macrophages, a process dependent on GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR.
Respiratory insufficiency
MedGen UID:
11197
Concept ID:
C0035229
Pathologic Function
Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed)

Recent clinical studies

Etiology

Nespeca M, Giorgetti C, Nobile S, Ferrini I, Simonato M, Verlato G, Cogo P, Carnielli VP
PLoS One 2016;11(4):e0153328. Epub 2016 Apr 12 doi: 10.1371/journal.pone.0153328. PMID: 27070307Free 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
Ohashi K, Sato A, Takada T, Arai T, Nei T, Kasahara Y, Motoi N, Hojo M, Urano S, Ishii H, Yokoba M, Eda R, Nakayama H, Nasuhara Y, Tsuchihashi Y, Kaneko C, Kanazawa H, Ebina M, Yamaguchi E, Kirchner J, Inoue Y, Nakata K, Tazawa R
Respir Med 2012 Feb;106(2):284-93. Epub 2011 Nov 22 doi: 10.1016/j.rmed.2011.10.019. PMID: 22112784
Hillman NH, Nitsos I, Berry C, Pillow JJ, Kallapur SG, Jobe AH
Am J Physiol Lung Cell Mol Physiol 2011 Nov;301(5):L712-20. Epub 2011 Aug 19 doi: 10.1152/ajplung.00157.2011. PMID: 21856815Free PMC Article
Hilgendorff A, Aslan E, Schaible T, Gortner L, Baehner T, Ebsen M, Kreuder J, Ruppert C, Guenther A, Reiss I
BMC Pulm Med 2008 Jul 14;8:10. doi: 10.1186/1471-2466-8-10. PMID: 18625067Free PMC Article

Diagnosis

Doubková M, Karpíšek M, Mazoch J, Skřičková J, Doubek M
Sarcoidosis Vasc Diffuse Lung Dis 2016 Oct 7;33(3):224-234. PMID: 27758987
Estorgato GR, Fiori HH, da Silva Ribeiro MA, de Paula D, Garcia PC, Mattiello R, Fiori RM
Pediatr Pulmonol 2016 Jun;51(6):596-600. Epub 2015 Nov 19 doi: 10.1002/ppul.23338. PMID: 26584251
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
Peca D, Petrini S, Tzialla C, Boldrini R, Morini F, Stronati M, Carnielli VP, Cogo PE, Danhaive O
Respir Res 2011 Aug 25;12:115. doi: 10.1186/1465-9921-12-115. PMID: 21867529Free PMC Article

Therapy

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
Ohashi K, Sato A, Takada T, Arai T, Nei T, Kasahara Y, Motoi N, Hojo M, Urano S, Ishii H, Yokoba M, Eda R, Nakayama H, Nasuhara Y, Tsuchihashi Y, Kaneko C, Kanazawa H, Ebina M, Yamaguchi E, Kirchner J, Inoue Y, Nakata K, Tazawa R
Respir Med 2012 Feb;106(2):284-93. Epub 2011 Nov 22 doi: 10.1016/j.rmed.2011.10.019. PMID: 22112784
Hillman NH, Nitsos I, Berry C, Pillow JJ, Kallapur SG, Jobe AH
Am J Physiol Lung Cell Mol Physiol 2011 Nov;301(5):L712-20. Epub 2011 Aug 19 doi: 10.1152/ajplung.00157.2011. PMID: 21856815Free PMC Article
Cattarossi L, Copetti R, Poskurica B, Miserocchi G
J Perinat Med 2010 Sep;38(5):557-63. doi: 10.1515/JPM.2010.096. PMID: 20629494
Hilgendorff A, Aslan E, Schaible T, Gortner L, Baehner T, Ebsen M, Kreuder J, Ruppert C, Guenther A, Reiss I
BMC Pulm Med 2008 Jul 14;8:10. doi: 10.1186/1471-2466-8-10. PMID: 18625067Free PMC Article

Prognosis

Doubková M, Karpíšek M, Mazoch J, Skřičková J, Doubek M
Sarcoidosis Vasc Diffuse Lung Dis 2016 Oct 7;33(3):224-234. PMID: 27758987
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
Piersigilli F, Peca D, Campi F, Corsello M, Landolfo F, Boldrini R, Danhaive O, Dotta A
Pediatr Int 2015 Oct;57(5):970-4. Epub 2015 Aug 19 doi: 10.1111/ped.12673. PMID: 26508177
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
Cattarossi L, Copetti R, Poskurica B, Miserocchi G
J Perinat Med 2010 Sep;38(5):557-63. doi: 10.1515/JPM.2010.096. PMID: 20629494

Clinical prediction guides

Doubková M, Karpíšek M, Mazoch J, Skřičková J, Doubek M
Sarcoidosis Vasc Diffuse Lung Dis 2016 Oct 7;33(3):224-234. PMID: 27758987
Kamio K, Usuki J, Azuma A, Matsuda K, Ishii T, Inomata M, Hayashi H, Kokuho N, Fujita K, Saito Y, Miya T, Gemma A
Pulm Pharmacol Ther 2015 Jun;32:29-36. Epub 2015 Apr 2 doi: 10.1016/j.pupt.2015.03.001. PMID: 25843005
Karadag N, Dilli D, Zenciroglu A, Aydin B, Beken S, Okumus N
Am J Perinatol 2014 Nov;31(11):1015-22. Epub 2014 Feb 24 doi: 10.1055/s-0034-1370344. PMID: 24566756
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
Gutierrez JA, Parry AJ, McMullan DM, Chapin CJ, Fineman JR
Am J Physiol Lung Cell Mol Physiol 2001 Nov;281(5):L1264-70. PMID: 11597919

Recent systematic reviews

Citti A, Peca D, Petrini S, Cutrera R, Biban P, Haass C, Boldrini R, Danhaive O
Ultrastruct Pathol 2013 Oct;37(5):356-65. doi: 10.3109/01913123.2013.811454. PMID: 24047351
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
Ohashi K, Sato A, Takada T, Arai T, Nei T, Kasahara Y, Motoi N, Hojo M, Urano S, Ishii H, Yokoba M, Eda R, Nakayama H, Nasuhara Y, Tsuchihashi Y, Kaneko C, Kanazawa H, Ebina M, Yamaguchi E, Kirchner J, Inoue Y, Nakata K, Tazawa R
Respir Med 2012 Feb;106(2):284-93. Epub 2011 Nov 22 doi: 10.1016/j.rmed.2011.10.019. PMID: 22112784
Huizar I, Kavuru MS
Curr Opin Pulm Med 2009 Sep;15(5):491-8. doi: 10.1097/MCP.0b013e32832ea51c. PMID: 19561506

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