Evidence map›Paper›PMID 40866983›Full record

ArticleItalian journal of pediatrics2025

A comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes.

Xiaolei Tang, Shunying Zhao, Yuelin Shen, Yu Tang, Xingfeng Yao, Hui Xu, Hui Liu, Xiaoyan Zhang, Xiao Li, Yanqiong Wang and 1 more

Abstract readComparative Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Italian journal of pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

11 authors.

Xiaolei TangDepartment of Respiratory Medicine, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, No.56 Nanlishi Road, Beijing, China.ORCID http://orcid.org/0000-0002-4381-2872
Shunying ZhaoDepartment of Respiratory Medicine, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, No.56 Nanlishi Road, Beijing, China.
Yuelin ShenDepartment of Respiratory Medicine, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, No.56 Nanlishi Road, Beijing, China.
Yu TangDepartment of Respiratory Medicine, Henan Children's Hospital, Zhengzhou Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.
Xingfeng YaoDepartment of Pathology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.
Hui XuDepartment of Respiratory Medicine, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, No.56 Nanlishi Road, Beijing, China.
Hui LiuDepartment of Respiratory Medicine, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, No.56 Nanlishi Road, Beijing, China.
Xiaoyan ZhangDepartment of Respiratory Medicine, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, No.56 Nanlishi Road, Beijing, China.
Xiao LiDepartment of Respiratory Medicine, Henan Children's Hospital, Zhengzhou Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.
Yanqiong WangDepartment of Respiratory Medicine, Henan Children's Hospital, Zhengzhou Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.
Haiming YangDepartment of Respiratory Medicine, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, No.56 Nanlishi Road, Beijing, China. yanghaiming830@163.com.

Funding

National Natural Science Foundation of China 82202061Natural Science Foundation of Xinjiang Uygur Autonomous Region 2022D01D55
6 · The paper itself

Abstract

backgroundSurfactant dysfunction disorders are a group of rare diseases that lead to childhood interstitial lung diseases (ILD). SFTPC, ABCA3, and NKX2-1 are the three genetic forms of this condition. The differences in clinical presentations and prognostic outcomes across these genotypes are not well understood, warranting comparative analysis.

methodsWe conducted a retrospective cohort study of 22 children with genetically confirmed surfactant dysfunction disorders (11 SFTPC, 5 ABCA3, 6 NKX2-1). Comprehensive evaluations included clinical features, high-resolution computed tomography (HRCT), serum Krebs von den Lungen-6 antigen (KL-6) levels, autoantibody profiles, immune function assessments, bronchoalveolar lavage fluid analysis, echocardiography, pathology, genetic testing, treatment regimens, and outcomes.

resultsThe median age at onset was 0.7 years, with the earliest onset in the NKX2-1 group (0.4 years) and the latest in the ABCA3 group (1.7 years). At presentation, the SFTPC group had the lowest respiratory symptom scores, followed by the ABCA3 group, while the NKX2-1 group showed the highest scores (P = 0.034). Pulmonary hypertension prevalence varied significantly among groups (P = 0.005), being highest in the NKX2-1 group (66.7%) and absent in the SFTPC group. KL-6 levels were lowest in the SFTPC group (1302 U/mL), intermediate in the ABCA3 group (4780 U/mL), and highest in the NKX2-1 group (6106.5 U/mL) (P = 0.064). Positive autoantibodies were detected in 27.3% of cases, and diffuse alveolar hemorrhage (DAH) occurred in 13.6%. At the last follow-up, the NKX2-1 group had significantly higher HRCT scores (P = 0.030) and KL-6 levels (P = 0.024) compared to the SFTPC group. The SFTPC group showed significant improvements in symptom scores (median 4 to 2, P = 0.001), HRCT scores (median 24 to 11, P = 0.001), and KL-6 levels (median 1302 U/mL to 620.5 U/mL, P = 0.008) after treatment. In contrast, the NKX2-1 group had worsening symptom scores (median 4.5 to 5.5, P = 0.031) and HRCT scores (median 17.5 to 30, P = 0.031). Among patients receiving combination therapy of corticosteroid and hydroxychloroquine, the SFTPC group had the lowest mortality rate (0%), while the NKX2-1 group had the highest (60%) (P = 0.041).

conclusionPatients in the SFTPC group were associated with milder phenotypes and better prognosis than patients in the NKX2-1 group in our cohort. A potential association between surfactant dysfunction disorders and autoimmune conditions, as well as DAH, may exist, warranting further investigation.

Indexed as

ATP-Binding Cassette TransportersLung Diseases, InterstitialMutationPulmonary Surfactant-Associated Protein CThyroid Nuclear Factor 1AdolescentChildChild, PreschoolFemaleHumansInfantMalePhenotypePrognosisRetrospective StudiesABCA3 protein, humanATP-Binding Cassette TransportersNKX2-1 protein, humanPulmonary Surfactant-Associated Protein CSFTPC protein, humanThyroid Nuclear Factor 1ABCA3ChildhoodInterstitial lung diseasesNKX2-1SFTPCSurfactant dysfunction

Identifiers

PMID40866983
PMCPMC12392539

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