Research & Literature

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.

Kröner C, Reu S, Teusch V, et al.

The European respiratory journal 2015; (46(1)):197-206 doi:10.1183/09031936.00129414.

Infant pulmonary function testing in chronic pneumonitis of infancy due to surfactant protein C mutation.

Hevroni A, Goldman A, Springer C

Pediatric pulmonology 2015; (50(6)):E17-23 doi:10.1002/ppul.23166.

Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.

Peca D, Boldrini R, Johannson J, et al.

European journal of human genetics : EJHG 2015; (23(8)):1033-41 doi:10.1038/ejhg.2015.45.

European protocols for the diagnosis and initial treatment of interstitial lung disease in children.

Bush A, Cunningham S, de Blic J, et al.

Thorax 2015; (70(11)):1078-84 doi:10.1136/thoraxjnl-2015-207349.

Surfactant proteins in pediatric interstitial lung disease.

Griese M, Lorenz E, Hengst M, et al.

Pediatric research 2016; (79(1-1)):34-41 doi:10.1038/pr.2015.173.

Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation.

Salerno T, Peca D, Menchini L, et al.

Italian journal of pediatrics 2016; (42()):23 doi:10.1186/s13052-016-0235-x.

[Chronic interstitial lung disease in children: Diagnostic approach and management].

Fuger M, Clair MP, El Ayoun Ibrahim N, et al.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2016; (23(5)):525-31.

Genetic disorders of surfactant protein dysfunction: when to consider and how to investigate.

Gupta A, Zheng SL

Archives of disease in childhood 2017; (102(1)):84-90 doi:10.1136/archdischild-2012-303143.

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.

Pulmonary hypertension in childhood interstitial lung disease: A systematic review of the literature.

Bromley S, Vizcaya D

Pediatric pulmonology 2017; (52(5)):689-698 doi:10.1002/ppul.23632.

A novel surfactant protein C mutation resulting in aberrant protein processing and altered subcellular localization causes infantile interstitial lung disease.

Hong D, Qi Y, Liu J, et al.

Pediatric research 2017; (81(6)):891-897 doi:10.1038/pr.2017.29.

Hydroxychloroquine retinopathy.

Yusuf IH, Sharma S, Luqmani R, Downes SM

Eye (London, England) 2017; (31(6)):828-845 doi:10.1038/eye.2016.298.

Pulmonary Neuroendocrine Cell Hyperplasia Associated with Surfactant Protein C Gene Mutation.

Jiramethee N, Erasmus D, Nogee L, Khoor A

Case reports in pulmonology 2017; (2017()):9541419 doi:10.1155/2017/9541419.

Genetic basis for childhood interstitial lung disease among Japanese infants and children.

Hayasaka I, Cho K, Akimoto T, et al.

Pediatric research 2018; (83(2)):477-483 doi:10.1038/pr.2017.217.

High-resolution CT findings of pulmonary interstitial glycogenosis.

Weinman JP, White CJ, Liptzin DR, et al.

Pediatric radiology 2018; (48(8)):1066-1072 doi:10.1007/s00247-018-4138-4.

Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation of SFTPC Successfully Treated with Lung Transplantation.

Park JS, Choi YJ, Kim YT, et al.

Journal of Korean medical science 2018; (33(22)):e159 doi:10.3346/jkms.2018.33.e159.

Expression of mutant Sftpc in murine alveolar epithelia drives spontaneous lung fibrosis.

Nureki SI, Tomer Y, Venosa A, et al.

The Journal of clinical investigation 2018; (128(9)):4008-4024.

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.

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.

Genetic basis of surfactant dysfunction in Chinese children: A retrospective study.

Chen J, Nong G, Liu X, et al.

Pediatric pulmonology 2019; (54(8)):1173-1181 doi:10.1002/ppul.24334.

Clinical and genetic spectrum of interstitial lung disease in Chinese children associated with surfactant protein C mutations.

Hong D, Dai D, Liu J, et al.

Italian journal of pediatrics 2019; (45(1)):117 doi:10.1186/s13052-019-0710-2.

Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report.

Gu R, Ye G, Zhou Y, Jiang Z

Medicine 2020; (99(12)):e19650 doi:10.1097/MD.0000000000019650.

Prospective evaluation of hydroxychloroquine in pediatric interstitial lung diseases: Study protocol for an investigator-initiated, randomized controlled, parallel-group clinical trial.

Griese M, Köhler M, Witt S, et al.

Trials 2020; (21(1)):307 doi:10.1186/s13063-020-4188-4.

Oxygen for interstitial lung diseases.

Khor YH, Smith DJF, Johannson KA, Renzoni E

Current opinion in pulmonary medicine 2020; (26(5)):464-469 doi:10.1097/MCP.0000000000000691.

Cardiopulmonary Exercise Testing in Patients With Interstitial Lung Disease.

Molgat-Seon Y, Schaeffer MR, Ryerson CJ, Guenette JA

Frontiers in physiology 2020; (11()):832 doi:10.3389/fphys.2020.00832.

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.

Toxicity of chloroquine and hydroxychloroquine following therapeutic use or overdose.

Doyno C, Sobieraj DM, Baker WL

Clinical toxicology (Philadelphia, Pa.) 2021; (59(1)):12-23 doi:10.1080/15563650.2020.1817479.

Inhaled Treprostinil in Pulmonary Hypertension Due to Interstitial Lung Disease.

Waxman A, Restrepo-Jaramillo R, Thenappan T, et al.

The New England journal of medicine 2021; (384(4)):325-334 doi:10.1056/NEJMoa2008470.

Ground glass and fibrotic change in children with surfactant protein C dysfunction mutations.

DeBoer EM, Liptzin DR, Humphries SM, et al.

Pediatric pulmonology 2021; (56(7)):2223-2231 doi:10.1002/ppul.25356.

Acute exacerbation in interstitial lung disease.

Alhamad EH, Cal JG, Alrajhi NN, AlBoukai AA

Annals of thoracic medicine 2021; (16(2)):178-187 doi:10.4103/atm.atm_14_21.

Study design of a randomised, placebo-controlled trial of nintedanib in children and adolescents with fibrosing interstitial lung disease.

Deterding R, Griese M, Deutsch G, et al.

ERJ open research 2021; (7(2)) doi:10.1183/23120541.00805-2020.

Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease.

Alysandratos KD, Russo SJ, Petcherski A, et al.

Cell reports 2021; (36(9)):109636 doi:10.1016/j.celrep.2021.109636.

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.

Transbronchial biopsy vs. bronchoalveolar lavage in interstitial lung disease.

Chugh K, Jatwani S

Current opinion in pulmonary medicine 2022; (28(1)):3-8 doi:10.1097/MCP.0000000000000847.

[Familial interstitial lung disease associated with surfactant protein C gene mutation in adults: report of two cases and literature review].

Wu TT, Yu YM, Tang P, et al.

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases 2022; (45(1)):53-58 doi:10.3760/cma.j.cn112147-20210428-00295.

Child Interstitial Lung Disease in an Infant with Surfactant Protein C Dysfunction due to c.202G>T Variant (p.V68F).

Park H, Bidiwala A, Conrad LA, et al.

Lung 2022; (200(1)):67-71 doi:10.1007/s00408-021-00501-2.

Screening Strategies for Pulmonary Hypertension in Patients With Interstitial Lung Disease: A Multidisciplinary Delphi Study.

Rahaghi FF, Kolaitis NA, Adegunsoye A, et al.

Chest 2022; (162(1)):145-155 doi:10.1016/j.chest.2022.02.012.

Mapping SP-C co-chaperone binding sites reveals molecular consequences of disease-causing mutations on protein maturation.

Pobre-Piza KFR, Mann MJ, Flory AR, Hendershot LM

Nature communications 2022; (13(1)):1821 doi:10.1038/s41467-022-29478-z.

Randomized controlled phase 2 trial of hydroxychloroquine in childhood interstitial lung disease.

Griese M, Kappler M, Stehling F, et al.

Orphanet journal of rare diseases 2022; (17(1)):289 doi:10.1186/s13023-022-02399-2.

Validation of Proposed Criteria for Progressive Pulmonary Fibrosis.

Pugashetti JV, Adegunsoye A, Wu Z, et al.

American journal of respiratory and critical care medicine 2023; (207(1)):69-76 doi:10.1164/rccm.202201-0124OC.

Diagnosis and monitoring of systemic sclerosis-associated interstitial lung disease using high-resolution computed tomography.

Khanna D, Distler O, Cottin V, et al.

Journal of scleroderma and related disorders 2022; (7(3)):168-178 doi:10.1177/23971983211064463.

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.

Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.

Balinotti JE, Mallie C, Maffey A, et al.

Pediatric pulmonology 2023; (58(2)):540-549 doi:10.1002/ppul.26225.

Severe Neonatal Interstitial Lung Disease Caused by a Rare Surfactant Protein C Mutation.

Terpe F, Schwerk N, Griese M, et al.

Pediatrics 2023; (151(6)) doi:10.1542/peds.2022-060038.

Lung Function Tests in Infants and Children.

Jat KR, Agarwal S

Indian journal of pediatrics 2023; (90(8)):790-797 doi:10.1007/s12098-023-04588-8.

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.

Interstitial lung disease as an indication for pediatric lung transplant.

Kuklinski CA, Blatter JA

Pediatric pulmonology 2024; (59(9)):2313-2320 doi:10.1002/ppul.26812.

Referral rates and barriers to lung transplantation based on pulmonary function criteria in interstitial lung diseases: a retrospective cohort study.

Deri O, Ovadia D, Huszti E, et al.

Therapeutic advances in respiratory disease 2024; (18()):17534666231221750 doi:10.1177/17534666231221750.

Neonatal-onset pulmonary alveolar proteinosis is a phenotype associated with poor outcomes in surfactant protein-C disorder.

Honjo R, Cho K, Hashimoto K, et al.

Early human development 2024; (189()):105930 doi:10.1016/j.earlhumdev.2023.105930.

Imaging of pulmonary fibrosis in children: A review, with proposed diagnostic criteria.

DeBoer EM, Weinman JP, Ley-Zaporozhan J, et al.

Pediatric pulmonology 2024; (59(4)):845-854 doi:10.1002/ppul.26857.

Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults.

Diesler R, Legendre M, Si-Mohamed S, et al.

Respirology (Carlton, Vic.) 2024; (29(4)):312-323 doi:10.1111/resp.14667.

Interstitial Lung Disease: A Review.

Maher TM

JAMA 2024; (331(19)):1655-1665 doi:10.1001/jama.2024.3669.

ERS statement on transition of care in childhood interstitial lung diseases.

Pohunek P, Manali E, Vijverberg S, et al.

The European respiratory journal 2024; (64(2)) doi:10.1183/13993003.02160-2023.

2023 American College of Rheumatology (ACR)/American College of Chest Physicians (CHEST) Guideline for the Screening and Monitoring of Interstitial Lung Disease in People with Systemic Autoimmune Rheumatic Diseases.

Johnson SR, Bernstein EJ, Bolster MB, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2024; (76(8)):1201-1213 doi:10.1002/art.42860.

Approach to the patient with Childhood Interstitial and Diffuse Lung Disease.

Fiorino EK, Fishman MP

Pediatric pulmonology 2024; (59(9)):2267-2275 doi:10.1002/ppul.27162.

The Clinical Approach to Interstitial Lung Disease in Childhood: A Narrative Review Article.

Drobňaková S, Vargová V, Barkai L

Children (Basel, Switzerland) 2024; (11(8)) doi:10.3390/children11080904.

Pulmonary Hypertension-Related Interstitial Lung Disease: An Expert Opinion with a Real-World Approach.

Criner RN, Naranjo M, D'Alonzo G, Weaver S

Biomedicines 2025; (13(4)) doi:10.3390/biomedicines13040808.

Genetic Disorders of Surfactant Metabolism.

Nevel RJ, Brennan SK, Wambach JA

NeoReviews 2025; (26(5)):e328-e338 doi:10.1542/neo.26-5-014.

Performance Characteristics for Physiological Measures of Progressive Pulmonary Fibrosis.

Newton CA, Thenappan A, Liu GY, et al.

American journal of respiratory and critical care medicine 2025; (211(10)):1867-1875 doi:10.1164/rccm.202501-0317OC.

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.

Advanced interstitial lung disease: Evidence-based management and clinical approach.

Kattih Z, Greenstein Z, Makkar P, Gupta R

Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG 2025; (42(2)):16206 doi:10.36141/svdld.v42i2.16206.

Endogenous gene editing of alveolar organoids reveals that expression of pathogenic variant SFTPC-I73T disrupts endosomal function, epithelial polarity and wound healing.

Rutherford EN, Sun D, Lim K, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.07.22.665497.

Clinical characteristics of SFTPC gene mutations in children: a single-center experience.

Yang T, Zhang F, Zheng G, et al.

Italian journal of pediatrics 2025; (51(1)):266 doi:10.1186/s13052-025-02101-9.

Molecular Investigation in Early-Onset Interstitial Lung Disease: Results From 699 Unrelated Patients.

Louvrier C, Nathan N, Cottin V, et al.

Respirology (Carlton, Vic.) 2026; (31(1)):53-61 doi:10.1111/resp.70132.

Treatable Traits in Pediatric Interstitial Lung Diseases: Bridging the Gap to Tailored Therapeutics.

Parisi GF, Papale M, Pecora G, et al.

Journal of clinical medicine 2025; (14(22)) doi:10.3390/jcm14228190.

Acute Exacerbation of Interstitial Lung Disease: Early Diagnosis and Treatment.

León-Román F, Martínez-Besteiro E, Iturbe D, et al.

Medicina (Kaunas, Lithuania) 2025; (61(12)) doi:10.3390/medicina61122097.

Prognostic significance of the ROX index in patients with acute exacerbation of interstitial lung disease treated with high-flow nasal cannula oxygen therapy: a retrospective cohort study.

Katayama I, Makino H, Sahara S, et al.

BMC pulmonary medicine 2026; (26(1)).

An update to the classification, evaluation, and management of childhood interstitial lung disease in infancy: an official American Thoracic Society Clinical Practice Guideline.

McGraw MD, DeBoer E, Weinman JP, et al.

American journal of respiratory and critical care medicine 2026; (212(10)):2308-2337 doi:10.1093/ajrccm/aamag375.

Adulthood interstitial lung disease due to variants in surfactant related genes: A systematic review.

Tirelli C, Sanduzzi Zamparelli S, Louvrier C, et al.

Pulmonology 2026; (32(1)):2736380 doi:10.1080/25310429.2026.2736380.