Research & Literature

Chronic ventilation in infants with surfactant protein C mutations: an alternative to lung transplantation.

Liptzin DR, Patel T, Deterding RR

American journal of respiratory and critical care medicine 2015; (191(11)):1338-40 doi:10.1164/rccm.201411-1955LE.

Rare Lung Diseases: Interstitial Lung Diseases and Lung Manifestations of Rheumatological Diseases.

Ramamurthy MB, Goh DY, Lim MT

Indian journal of pediatrics 2015; (82(10)):956-61 doi:10.1007/s12098-015-1867-3.

A disorder of surfactant metabolism without identified genetic mutations.

Montella S, Vece TJ, Langston C, et al.

Italian journal of pediatrics 2015; (41()):93 doi:10.1186/s13052-015-0198-3.

The unfolded protein response controls ER stress-induced apoptosis of lung epithelial cells through angiotensin generation.

Nguyen H, Uhal BD

American journal of physiology. Lung cellular and molecular physiology 2016; (311(5)):L846-L854 doi:10.1152/ajplung.00449.2015.

Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency.

López-Andreu JA, Hidalgo-Santos AD, Fuentes-Castelló MA, et al.

The Journal of pediatrics 2017; (190()):268-270.e1 doi:10.1016/j.jpeds.2017.07.009.

Design of the PF-ILD trial: a double-blind, randomised, placebo-controlled phase III trial of nintedanib in patients with progressive fibrosing interstitial lung disease.

Flaherty KR, Brown KK, Wells AU, et al.

BMJ open respiratory research 2017; (4(1)):e000212 doi:10.1136/bmjresp-2017-000212.

Symptom prevalence of patients with fibrotic interstitial lung disease: a systematic literature review.

Carvajalino S, Reigada C, Johnson MJ, et al.

BMC pulmonary medicine 2018; (18(1)):78 doi:10.1186/s12890-018-0651-3.

Transbronchial Lung Cryobiopsy for Diagnosis of Pediatric Interstitial Lung Disease.

Srikanta JT, Swarna S, Shylendra DS, Mehta R

Indian pediatrics 2018; (55(6)):519-520.

Systematic review of drug effects in humans and models with surfactant-processing disease.

Klay D, Hoffman TW, Harmsze AM, et al.

European respiratory review : an official journal of the European Respiratory Society 2018; (27(149)) doi:10.1183/16000617.0135-2017.

Effect of ambulatory oxygen on quality of life for patients with fibrotic lung disease (AmbOx): a prospective, open-label, mixed-method, crossover randomised controlled trial.

Visca D, Mori L, Tsipouri V, et al.

The Lancet. Respiratory medicine 2018; (6(10)):759-770 doi:10.1016/S2213-2600(18)30289-3.

[Genetic variants in the surfactant protein C gene 218 site are associated with pediatric interstitial lung disease: seven cases study].

Liu J, Chen JH, Wang YQ, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2019; (57(1)):21-26 doi:10.3760/cma.j.issn.0578-1310.2019.01.007.

An SFTPC BRICHOS mutant links epithelial ER stress and spontaneous lung fibrosis.

Katzen J, Wagner BD, Venosa A, et al.

JCI insight 2019; (4(6)).

High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2-1 mutations).

LeMoine BD, Browne LP, Liptzin DR, et al.

Pediatric radiology 2019; (49(7)):869-875 doi:10.1007/s00247-019-04388-3.

Evaluation of changes in the serum levels of Krebs von den Lungen-6 and surfactant protein-D over time as important biomarkers in idiopathic fibrotic nonspecific interstitial pneumonia.

Yamakawa H, Hagiwara E, Ikeda S, et al.

Respiratory investigation 2019; (57(5)):422-429 doi:10.1016/j.resinv.2019.03.006.

King's Brief Interstitial Lung Disease questionnaire: responsiveness and minimum clinically important difference.

Nolan CM, Birring SS, Maddocks M, et al.

The European respiratory journal 2019; (54(3)) doi:10.1183/13993003.00281-2019.

A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome.

Mitsiakos G, Tsakalidis C, Karagianni P, et al.

Medicina (Kaunas, Lithuania) 2019; (55(7)) doi:10.3390/medicina55070389.

Metabolic labelling of choline phospholipids probes ABCA3 transport in lamellar bodies.

Li Y, Kinting S, Höppner S, et al.

Biochimica et biophysica acta. Molecular and cell biology of lipids 2019; (1864(12)):158516 doi:10.1016/j.bbalip.2019.158516.

Nintedanib in Progressive Fibrosing Interstitial Lung Diseases.

Flaherty KR, Wells AU, Cottin V, et al.

The New England journal of medicine 2019; (381(18)):1718-1727 doi:10.1056/NEJMoa1908681.

An SFTPC gene mutation causes childhood interstitial lung disease: first report in the Arab region.

Alzaid MA, Eltahir S, Amin Ur Rahman M, et al.

JRSM open 2020; (11(2)):2054270419894821 doi:10.1177/2054270419894821.

Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.

Oltvai ZN, Smith EA, Wiens K, et al.

Cold Spring Harbor molecular case studies 2020; (6(3)) doi:10.1101/mcs.a005074.

Connective Tissue Disease-Related Interstitial Lung Disease: Prevalence, Patterns, Predictors, Prognosis, and Treatment.

Jeganathan N, Sathananthan M

Lung 2020; (198(5)):735-759 doi:10.1007/s00408-020-00383-w.

Surfactant protein C dysfunction with new clinical insights for diffuse alveolar hemorrhage and autoimmunity.

Tang X, Shen Y, Zhou C, et al.

Pediatric investigation 2019; (3(4)):201-206 doi:10.1002/ped4.12162.

Longitudinal change during follow-up of systemic sclerosis: correlation between high-resolution computed tomography and pulmonary function tests.

Carnevale A, Silva M, Maietti E, et al.

Clinical rheumatology 2021; (40(1)):213-219 doi:10.1007/s10067-020-05375-y.

Antifibrotic drugs in connective tissue disease-related interstitial lung disease (CTD-ILD): from mechanistic insights to therapeutic applications.

Erre GL, Sebastiani M, Manfredi A, et al.

Drugs in context 2021; (10()) doi:10.7573/dic.2020-8-6.

Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a case report.

Shaaban W, Hammoud M, Abdulraheem A, et al.

Journal of medical case reports 2021; (15(1)):54 doi:10.1186/s13256-020-02604-5.

Genetic disorders of the surfactant system: focus on adult disease.

van Moorsel CHM, van der Vis JJ, Grutters JC

European respiratory review : an official journal of the European Respiratory Society 2021; (30(159)) doi:10.1183/16000617.0085-2020.

Assessment of recent evidence for the management of patients with systemic sclerosis-associated interstitial lung disease: a systematic review.

Hoffmann-Vold AM, Maher TM, Philpot EE, et al.

ERJ open research 2021; (7(1)) doi:10.1183/23120541.00235-2020.

Surfactant protein disorders in childhood interstitial lung disease.

Singh J, Jaffe A, Schultz A, Selvadurai H

European journal of pediatrics 2021; (180(9)):2711-2721 doi:10.1007/s00431-021-04066-3.

Effectiveness of Pulmonary Rehabilitation in Interstitial Lung Disease, Including Coronavirus Diseases: A Systematic Review and Meta-analysis.

Reina-Gutiérrez S, Torres-Costoso A, Martínez-Vizcaíno V, et al.

Archives of physical medicine and rehabilitation 2021; (102(10)):1989-1997.e3 doi:10.1016/j.apmr.2021.03.035.

Congenital Deletion of Nedd4-2 in Lung Epithelial Cells Causes Progressive Alveolitis and Pulmonary Fibrosis in Neonatal Mice.

Leitz DHW, Duerr J, Mulugeta S, et al.

International journal of molecular sciences 2021; (22(11)) doi:10.3390/ijms22116146.

Fibrotic Idiopathic Interstitial Lung Disease: The Molecular and Cellular Key Players.

Samarelli AV, Tonelli R, Marchioni A, et al.

International journal of molecular sciences 2021; (22(16)) doi:10.3390/ijms22168952.

Surfactant Protein C Deficiency in a Puerto Rican Adolescent With a Rare SFTPC Genetic Variant.

Acosta-Rivera V, Melendez-Montañez JM, Diaz-Sotomayor F, De Jesús-Rojas W

Cureus 2021; (13(8)):e17422 doi:10.7759/cureus.17422.

Azithromycin alleviates the severity of rheumatoid arthritis by targeting the unfolded protein response component of glucose-regulated protein 78 (GRP78).

Zhang Y, Ge L, Song G, et al.

British journal of pharmacology 2022; (179(6)):1201-1219 doi:10.1111/bph.15714.

A Phase-2 Exploratory Randomized Controlled Trial of INOpulse in Patients with Fibrotic Interstitial Lung Disease Requiring Oxygen.

King CS, Flaherty KR, Glassberg MK, et al.

Annals of the American Thoracic Society 2022; (19(4)):594-602 doi:10.1513/AnnalsATS.202107-864OC.

The psychometric properties of the King's Brief Interstitial Lung Disease questionnaire and thresholds for meaningful treatment response in patients with progressive fibrosing interstitial lung diseases.

Birring SS, Bushnell DM, Baldwin M, et al.

The European respiratory journal 2022; (59(6)) doi:10.1183/13993003.01790-2021.

Acute exacerbations in children's interstitial lung disease.

Seidl E, Schwerk N, Carlens J, et al.

Thorax 2022; (77(8)):799-804 doi:10.1136/thoraxjnl-2021-217941.

Disruption of proteostasis causes IRE1 mediated reprogramming of alveolar epithelial cells.

Katzen J, Rodriguez L, Tomer Y, et al.

Proceedings of the National Academy of Sciences of the United States of America 2022; (119(43)):e2123187119 doi:10.1073/pnas.2123187119.

Congenital Surfactant C Deficiency with Pulmonary Hypertension-A Case Report.

Chua WC, Chen IC, Liu YC, et al.

Children (Basel, Switzerland) 2022; (9(10)) doi:10.3390/children9101435.

Childhood interstitial lung disease: The end of a diagnostic odyssey.

Chan KJ, Thong MK, Nathan AM, et al.

Annals of the Academy of Medicine, Singapore 2022; (51(10)):651-652 doi:10.47102/annals-acadmedsg.202257.

Chronic Expression of a Clinical SFTPC Mutation Causes Murine Lung Fibrosis with Idiopathic Pulmonary Fibrosis Features.

Rodriguez L, Tomer Y, Carson P, et al.

American journal of respiratory cell and molecular biology 2023; (68(4)):358-365 doi:10.1165/rcmb.2022-0203MA.

Interstitial Lung Disease in Adulthood Associated with Surfactant Protein C Gene Mutation in a Patient with a History of Lipoid Pneumonia in Infancy.

Furukawa T, Akaike K, Iyama S, et al.

Internal medicine (Tokyo, Japan) 2023; (62(17)):2521-2525 doi:10.2169/internalmedicine.0980-22.

Imaging findings of COPA Syndrome.

Nguyen HN, Salman R, Vogel TP, et al.

Pediatric radiology 2023; (53(5)):844-853 doi:10.1007/s00247-023-05600-1.

Diagnosis and Pharmacologic Management of Fibrotic Interstitial Lung Disease.

Berger K, Kaner RJ

Life (Basel, Switzerland) 2023; (13(3)) doi:10.3390/life13030599.

Exercise Rehabilitation and Chronic Respiratory Diseases: Effects, Mechanisms, and Therapeutic Benefits.

Xiong T, Bai X, Wei X, et al.

International journal of chronic obstructive pulmonary disease 2023; (18()):1251-1266 doi:10.2147/COPD.S408325.

The US national registry for childhood interstitial and diffuse lung disease: Report of study design and initial enrollment cohort.

Nevel RJ, Deutsch GH, Craven D, et al.

Pediatric pulmonology 2024; (59(9)):2236-2246 doi:10.1002/ppul.26568.

Cryptotanshinone is a candidate therapeutic agent for interstitial lung disease associated with a BRICHOS-domain mutation of SFTPC.

Hosokawa M, Mikawa R, Hagiwara A, et al.

iScience 2023; (26(10)):107731 doi:10.1016/j.isci.2023.107731.

Genetics of bronchopulmonary dysplasia: An update.

Lavoie PM, Rayment JH

Seminars in perinatology 2023; (47(6)):151811 doi:10.1016/j.semperi.2023.151811.

Outcome of lung transplantation for adults with interstitial lung disease associated with genetic disorders of the surfactant system.

Bermudez J, Nathan N, Coiffard B, et al.

ERJ open research 2023; (9(6)) doi:10.1183/23120541.00240-2023.

Towards personalized therapies for genetic disorders of surfactant dysfunction.

Peers de Nieuwburgh M, Wambach JA, Griese M, Danhaive O

Seminars in fetal & neonatal medicine 2023; (28(6)):101500 doi:10.1016/j.siny.2023.101500.

Real-world safety and effectiveness of pirfenidone and nintedanib in the treatment of idiopathic pulmonary fibrosis: a systematic review and meta-analysis.

Kou M, Jiao Y, Li Z, et al.

European journal of clinical pharmacology 2024; (80(10)):1445-1460 doi:10.1007/s00228-024-03720-7.

Longitudinal lung function trajectories in response to azithromycin therapy for chronic lung disease in children with HIV infection: a secondary analysis of the BREATHE trial.

Madanhire T, McHugh G, Simms V, et al.

BMC pulmonary medicine 2024; (24(1)):339 doi:10.1186/s12890-024-03155-x.

Rare genetic interstitial lung diseases: a pictorial essay.

Borie R, Berteloot L, Kannengiesser C, et al.

European respiratory review : an official journal of the European Respiratory Society 2024; (33(174)) doi:10.1183/16000617.0101-2024.

Diagnostic performance of specific biomarkers for interstitial lung disease: a single center study.

Maharjan AS, Amjadi SS, Jaskowski TD, et al.

Clinical chemistry and laboratory medicine 2025; (63(4)):797-804 doi:10.1515/cclm-2024-1048.

Childhood interstitial lung disease survivors in adulthood: a European collaborative study.

Manali ED, Griese M, Nathan N, et al.

The European respiratory journal 2025; (65(2)) doi:10.1183/13993003.00680-2024.

An update on diagnosis and treatments of childhood interstitial lung diseases.

Marczak H, Krenke K, Griese M, et al.

Breathe (Sheffield, England) 2025; (21(2)):250004 doi:10.1183/20734735.0004-2025.

Evaluating the Use of iPSC-Derived Models in Understanding the Pathogenesis of Childhood Interstitial Lung Disease.

Jinson S, Shanthikumar S, Werder RB

Pediatric pulmonology 2025; (60(5)):e71143 doi:10.1002/ppul.71143.

A rare interstitial lung disease in young adulthood due to surfactant protein C gene mutation: Two case reports with brief literature review.

Sengul Y, Gosche E, Hazelton T

Radiology case reports 2025; (20(9)):4299-4303 doi:10.1016/j.radcr.2025.05.051.

THERAPIES FOR NEONATAL DISEASES OF THE SURFACTANT SYSTEM.

McCray PB

Transactions of the American Clinical and Climatological Association 2025; (135()):119-129.

Congenital Cytomegalovirus Pneumonitis Mimicking Childhood Interstitial Lung Disease: A Case Report and Review of Diagnostic Challenges.

Al Abdali K, Al Wardi T, Elfatih R, et al.

Cureus 2025; (17(7)):e87869 doi:10.7759/cureus.87869.

Genetic Familial Interstitial Lung Disease.

Fernandez RJ, Kropski JA

Clinics in chest medicine 2025; (46(4)):685-699 doi:10.1016/j.ccm.2025.07.008.

Case Report: Hydroxychloroquine in an infant with NKX2-1-associated interstitial lung disease.

Qing D, Xu X, Shi T, et al.

Frontiers in pediatrics 2025; (13()):1619722 doi:10.3389/fped.2025.1619722.

Engraftment of wild-type alveolar type II epithelial cells in surfactant protein C deficient mice.

Predella C, Lapsley L, Ni K, et al.

NPJ Regenerative medicine 2026; (11(1)):11 doi:10.1038/s41536-026-00455-0.

Understanding Pulmonary Fibrosis in Pediatric Interstitial Lung Disease: A Comprehensive Analysis.

Kekec H, Aslan AT, Akdulum I, et al.

Chest 2026; doi:10.1016/j.chest.2026.01.022.