Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation

Li, Haiyan; Lin, Li; Hu, Xin; Li, Changchong; Zhang, Hailin

doi:10.3389/fped.2019.00036

Cited by 9 publications

(7 citation statements)

References 38 publications

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“…A total of 41 references and one patient diagnosed in our hospital (unpublished) were included in the analysis (Supporting Information Table) 12‐52 . Among the studies, 23 were in English and 17 were in Chinese.…”

Section: Resultsmentioning

confidence: 99%

A systematic review of the clinical and genetic characteristics of Chinese patients with cystic fibrosis

Shi

Wang

et al. 2020

Pediatric Pulmonology

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Objectives: To investigate and summarize the clinical and genetic characteristics of Chinese cystic fibrosis (CF) patients to improve clinicians' understanding and decrease the rates of misdiagnosis and missed diagnoses in China. Methods: The EMBASE, Cochrane Library, PubMed and SinoMed databases were searched for studies involving Chinese CF patients from January 1975 to August 2019. Results: In total, 113 Chinese patients, including 53 males and 60 females, were reported. Nineteen patients had a family history of CF. The median age at diagnosis was 8.7 years. Among Chinese CF patients, 70.8% had bronchiectasis, 9.7% had a hemoptysis history, 33.6% had clubbed fingers, 17.7% had allergic bronchopulmonary aspergillosis, and 29.2% had chronic diarrhea; the incidence of malnutrition was 52.2%. Five patients had jaundice, 26 patients had hepatomegaly, and 9 patients had meconium ileus in the neonatal period, and the incidence of liver cirrhosis was 5.3%. The predominant organism in airways was Pseudomonas aeruginosa, followed by Staphylococcus aureus. Seventy-nine patients underwent the sweat test, and all of them were positive, with an average chloride ion level of 122.2 mmol/L. Eighty-eight Chinese CF patients underwent genetic testing, and 74 CF transmembrane conductance regulator (CFTR) gene mutations were reported. The most common gene mutation was c.2909G→A. One Phe508del gene mutation was observed. Conclusion: The common clinical manifestations and CFTR gene mutations in Chinese CF patients are different from those in Caucasian patients. The age at CF diagnosis in China is relatively old, suggesting that the CF incidence in China may be seriously underestimated.

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Section: Resultsmentioning

confidence: 99%

A systematic review of the clinical and genetic characteristics of Chinese patients with cystic fibrosis

Shi

Wang

et al. 2020

Pediatric Pulmonology

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“…By comparison, only approximately 70 Chinese patients have been reported in the literature [1]. It was believed that CF is extremely rare in the Chinese population; however, more than half of these Chinese patients have been reported in the most recent four or five years, [2][3][4][5][6] suggesting that there might be a significant under-estimation of CF incidence in China. With all available data from these studies, we recently made a preliminary summary of the phenotype and genotype spectra of CF in China [1].…”

Section: Introductionmentioning

confidence: 99%

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis

Liu

Xiao

et al. 2020

Orphanet J Rare Dis

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Background: Cystic fibrosis (CF) is a rare autosomal recessive disorder caused by biallelic mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The clinical features and mutation spectrum of CF have been well characterized in Caucasians, while limited studies were conducted in Chinese patients. Subjects and methods: A total of 20 individuals from 19 families were diagnosed with CF in this study. We analyzed the clinical features and screened all coding exons of CFTR using a combination of Sanger sequencing and multiplex ligation-dependent probe amplification analysis. Results: The median age at onset was 9.3 years in our cohort, while the median age at diagnosis was 19 years. The respiratory system was most frequently affected in this study: all patients (100%, 19/19) presented diffuse bronchiectasis and 61.1% (11/18) of patients showed a forced expiratory volume in 1 s below 80% predicted. Six patients (6/20, 30%) exhibited allergic bronchopulmonary aspergillosis (ABPA). Only 4 (4/20, 20%) patients presented pancreatic exocrine insufficiency (PI). Three adult male patients receiving examinations for congenital bilateral absence of the vas deferens were all found positive for the condition. A total of 22 distinct mutations were detected in this cohort, with the variant p.G970D as the most common variant (12/38 alleles, 31.6%). Four variants (p.Y109D, p.I203F, p.D572E, and exon 2-3 deletion) were novel, which expanded the mutation spectrum of Chinese CF patients. Conclusions: Chinese CF patients showed different clinical features and a distinct CFTR mutation spectrum compared with Caucasians. There is a significant diagnosis delay, suggesting the current underdiagnosis of CF in China.

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“…By comparison, only approximately 70 Chinese patients have been reported in the literature. [1] It was believed that CF is extremely rare in the Chinese population; however, more than half of these Chinese patients have been reported in the most recent four or five years, [2][3][4][5][6] suggesting that there might be a significant under-estimation of CF incidence in China.…”

Section: Introductionmentioning

confidence: 99%

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis

Liu

Xiao

et al. 2020

Preprint

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Background Cystic fibrosis (CF) is a rare autosomal recessive disorder caused by biallelic mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The clinical features and mutation spectrum of CF have been well characterized in Caucasians, while limited studies were conducted in Chinese patients. Subjects and methods A total of 20 individuals from 19 families were diagnosed with CF in this study. We analyzed the clinical features and screened all coding exons of CFTR using a combination of Sanger sequencing and multiplex ligation-dependent probe amplification analysis. Results The median age at onset was 9.3 years in our cohort, while the median age at diagnosis was 19 years. The respiratory system was most frequently affected in this study: all patients (100%, 19/19) presented diffuse bronchiectasis and 61.1% (11/18) of patients showed a forced expiratory volume in 1 s below 80% predicted. Six patients (6/20, 30%) exhibited allergic bronchopulmonary aspergillosis (ABPA). Only 4 (4/20, 20%) patients presented pancreatic exocrine insufficiency (PI). Three adult male patients receiving examinations for congenital bilateral absence of the vas deferens were all found positive for the condition. A total of 22 distinct mutations were detected in this cohort, with the variant p.G970D as the most common variant (12/38 alleles, 31.6%). Four variants (p.Y109D, p.I203F, p.D572E, and exon 2-3 deletion) were novel, which expanded the mutation spectrum of Chinese CF patients. Conclusions Chinese CF patients showed different clinical features and a distinct CFTR mutation spectrum compared with Caucasians. There is a significant diagnosis delay, suggesting the current underdiagnosis of CF in China.

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Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation

Cited by 9 publications

References 38 publications

A systematic review of the clinical and genetic characteristics of Chinese patients with cystic fibrosis

A systematic review of the clinical and genetic characteristics of Chinese patients with cystic fibrosis

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis

Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis

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