SynthesisOrphanet journal of rare diseases2018
Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases.
Synthesis in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed, 52 citations in OpenAlex.
- Distinct CFTR Mutation Spectrum and Atypical Clinical Presentations in Chinese Patients with Cystic Fibrosis.International journal of molecular sciences · 2026Review
- Article
- Spectrum and Classification of CFTR and ADGRG2 Variants in Chinese Patients With Isolated CAVD: A Large Cohort Study and Risk Assessment of CFTR Variant Carriage in Couples.Human mutation · 2026Article
- Cystic fibrosis complicated by allergic bronchopulmonary aspergillosis in a Chinese adolescent: a case report and literature review.AME case reports · 2026Article
- Clinical and genetic characteristics of diseases caused by CFTR gene mutations in 15 Chinese children: a retrospective analysis.BMC pediatrics · 2025Article
- Diseases Common in Persons With Cystic Fibrosis Among CFTR Heterozygotes.JAMA internal medicine · 2025Article
- Pediatric lung transplantation in China, 2019-2023.World journal of pediatrics : WJP · 2025Article
- The globalization of cystic fibrosis care.Current opinion in pediatrics · 2025Review
- Progression and mortality of patients with cystic fibrosis in China.Orphanet journal of rare diseases · 2025Article
- [Detection of pathogenic gene mutations in thirteen cases of congenital bilateral absence of vas deferens infertility patients].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2024Article
- Compound heterozygous CFTR variants (Q1352H and 5T; TG13) in a Chinese patient with cystic fibrosis.Diagnostic pathology · 2024Article
- [Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Increased prevalence ofHeliyon · 2024Article
- A Case Report of the First Filipino Infant Diagnosed with Cystic Fibrosis through the Philippine Newborn Screening Program.Acta medica Philippina · 2024Article
- A comprehensive review of cystic fibrosis in Africa and Asia.Saudi journal of biological sciences · 2023Review
- Clinical, paraclinical, and genetic profile of patients with cystic fibrosis from Colombian Caribbean.Heliyon · 2023Article
- Cystic Fibrosis Bone Disease: The Interplay between CFTR Dysfunction and Chronic Inflammation.Biomolecules · 2023Review
- [Clinical and gene mutation features of cystic fibrosis: an analysis of 8 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022Article
- Targeting fibrosis, mechanisms and cilinical trials.Signal transduction and targeted therapy · 2022Review
- Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.Orphanet journal of rare diseases · 2022Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Cystic fibrosis (CF) is a rare disease most commonly seen in Caucasians. Only a few Chinese CF patients have been described in literature, taking into account the large population of China. In this systematic review, we collected the clinical and genetic information of 71 Chinese CF patients based on all available data. Compared with Caucasians, Chinese CF patients often present atypical symptoms, mainly displaying symptoms of pulmonary infection with fewer digestive symptoms. An ethnicity-specific CFTR variant spectrum was also observed in CF patients of Chinese origin, with p.Gly970Asp as the most common mutation while p.Phe508del, the most common pathogenic mutation in CF patients of Caucasian origin, is rare, suggesting the necessity of a Chinese-specific CFTR variant screening panel. Besides, multiplex ligation-dependent probe amplification analysis should be routinely considered, especially for those with unidentified mutations. Potential under-diagnosis of CF in Chinese patients might be caused by a combination of atypical clinical features and genetic heterogeneity in Chinese CF patients, the inaccessibility of sweat and genetic testing facilities, and the one-child policy in China. With the approval of promising small molecule correctors and potentiators, molecular characterization of Chinese-specific CFTR mutations will help to realize more precise treatment for Chinese CF patients.
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Registered trials
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.