Surfactant protein disorders in childhood interstitial lung disease

Jagdev Singh; Adam Jaffe; André Schultz; Hiran Selvadurai

doi:10.1007/s00431-021-04066-3

Surfactant protein disorders in childhood interstitial lung disease

Eur J Pediatr. 2021 Sep;180(9):2711-2721. doi: 10.1007/s00431-021-04066-3. Epub 2021 Apr 11.

Authors

Jagdev Singh^{1

2}, Adam Jaffe^{3

4}, André Schultz^{5

6

7}, Hiran Selvadurai^{8

9}

Affiliations

¹ Department of Respiratory Medicine, The Children's Hospital at Westmead, Sydney, NSW, Australia. jagdev.singh@health.nsw.gov.au.
² Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia. jagdev.singh@health.nsw.gov.au.
³ Department of Respiratory Medicine, Sydney Children's Hospital, Randwick, NSW, Australia.
⁴ Faculty of Medicine, School of Women's & Children's Health, University of New South Wales, Sydney, NSW, Australia.
⁵ Respiratory Department, Princess Margaret Hospital for Children, Perth, Australia.
⁶ School of Paediatric and Child Health, University of Western Australia, Perth, Australia.
⁷ Telethon Kids Institute, University of Western Australia, Perth, Australia.
⁸ Department of Respiratory Medicine, The Children's Hospital at Westmead, Sydney, NSW, Australia.
⁹ Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.

PMID: 33839914
DOI: 10.1007/s00431-021-04066-3

Abstract

Surfactant, which was first identified in the 1920s, is pivotal to lower the surface tension in alveoli of the lungs and helps to lower the work of breathing and prevents atelectasis. Surfactant proteins, such as surfactant protein B and surfactant protein C, contribute to function and stability of surfactant film. Additionally, adenosine triphosphate binding cassette 3 and thyroid transcription factor-1 are also integral for the normal structure and functioning of pulmonary surfactant. Through the study and improved understanding of surfactant over the decades, there is increasing interest into the study of childhood interstitial lung diseases (chILD) in the context of surfactant protein disorders. Surfactant protein deficiency syndrome (SPDS) is a group of rare diseases within the chILD group that is caused by genetic mutations of SFTPB, SFTPC, ABCA3 and TTF1 genes.Conclusion: This review article seeks to provide an overview of surfactant protein disorders in the context of chILD. What is Known: • Surfactant protein disorders are an extremely rare group of disorders caused by genetic mutations of SFTPB, SPTPC, ABCA3 and TTF1 genes. • Given its rarity, research is only beginning to unmask the pathophysiology, inheritance, spectrum of disease and its manifestations. What is New: • Diagnostic and treatment options continue to be explored and evolve in these conditions. • It is, therefore, imperative that we as paediatricians are abreast with current development in this field.

Keywords: ABCA3; SFTPB; SFTPC; Surfactant; TTF1; chILD.

Publication types

Review

MeSH terms

ATP-Binding Cassette Transporters / genetics
Child
Humans
Lung
Lung Diseases, Interstitial* / etiology
Lung Diseases, Interstitial* / genetics
Mutation
Pulmonary Surfactants*
Surface-Active Agents

Substances

ATP-Binding Cassette Transporters
Pulmonary Surfactants
Surface-Active Agents