Evidence map›Paper›PMID 41039378›Full record

ArticleBMC pediatrics2025

Clinical and genetic characteristics of diseases caused by CFTR gene mutations in 15 Chinese children: a retrospective analysis.

Huaqin Bu, Tian Yang, Jia Li, Ting Gong, Shuya Lu, Dandong Zhao, Donghai Wang, Jihong Dai, Li Yan, Ying Li and 1 more

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Article in BMC pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

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No citing paper in PubMed yet.

4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Huaqin BuDepartment of Respiratory Medicine, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing, China.
Tian YangDepartment of Respiratory Medicine, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing, China.
Jia LiDepartment of Respiratory Medicine, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing, China.
Ting GongDepartment of Respiratory Medicine, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing, China.
Shuya LuSchool of Nursing, Hong Kong Polytechnic University, Hong Kong, China.
Dandong ZhaoDepartment of Respiratory Medicine, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing, China.
Donghai WangDepartment of Respiratory Medicine, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing, China.
Jihong DaiDepartment of Respiratory Medicine, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing, China.
Li YanDepartment of Respiratory Medicine, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing, China.
Ying LiDepartment of Respiratory Medicine, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing, China.
Daiyin TianDepartment of Respiratory Medicine, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing, China. t_dy@163.com.

Funding

General Program of Natural Science Foundation of Chongqing CSTB2022NSCQMSX0822National Natural Science Foundation of China 81870012, 82171712Program for Youth Innovation in Future Medicine, Chongqing Medical University W0063
6 · The paper itself

Abstract

objectiveThis study aimed to summarize and analyze the clinical and genetic characteristics of diseases caused by cystic fibrosis transmembrane conduction regulator (CFTR) gene mutations in Chinese children and to improve our understanding of cystic fibrosis (CF).

methodsWe retrospectively analyzed the clinical data of 15 children with CFTR mutations who were admitted to Children’s Hospital of Chongqing Medical University from January 2012 to January 2023.

results15 Chinese patients were included in our study, among which 9 had a confirmed diagnosis of CF. The median age of onset was 1.00 years (IQR 0.11–5.08 years, range 0-13.17 years). The median age of diagnosis was 5.33 years (IQR 0.43–11.33, range 0.09–14.17 years). Among those confirmed CF patients, 66.7% had bronchiectasis, 88.9% had malnutrition, and 66.7% had fatty stools. Across all hospitalizations, P. aeruginosa (6 patients), Haemophilus influenzae (6 patients), Staphylococcus aureus (5 patients), and Klebsiella pneumoniae (3 patients) were the most common bacterial infections. We identified 27 variants (two patients had three variants and one patient had single variant) from 15 individuals. The common variants included c.1521_1523delcTT (3 patients), c.2909G > A (2 patients), c.1766 + 5G > T (2 patients), and c.374T > C (2 patients). Four novel variants were found, namely c.2476_2477AACG ins, c.3104 A > G, c.884delT and c.4137-35G > A.

conclusionOur study demonstrated that the clinical phenotypes associated with CFTR gene mutations are diverse. CFTR gene variants are rare in China, and the pathogenicity of over half of the associated loci remains unclear. Enhancing sweat chloride detection should be applied to facilitate the diagnosis of these conditions and clarify the pathogenicity of these variants.

Indexed as

Cystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorMutationAdolescentBronchiectasisChildChild, PreschoolChinaEast Asian PeopleFemaleHumansInfantMaleRetrospective StudiesCFTR protein, humanCystic Fibrosis Transmembrane Conductance RegulatorCFTR-related disordersChildrenCystic fibrosisCystic fibrosis transmembrane conductance regulatorGene variantsPhenotype

Identifiers

PMID41039378
PMCPMC12492759

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.