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cystic fibrosis: a rare disease emerging in China

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Science China(Life Sciences) 2020年第7期63卷 1082-1084页

作者： Tengyue Zhang Xinlun Tian Kai-Feng Xu Department of Respiratory Medicine Peking Union Medical College HospitalChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100730China

cystic fibrosis (CF) is an autosomal recessive disease that is caused by mutations in the CF transmembrane conductance regulator (CFTR) protein, an anion channel expressed on the epithelial surface (Rowe et al., 2005). The dysfunction of Cl–anion channels leads to pathophysiological changes such as airway surface liquid (ASL) decrement, delayed mucociliary clearance and defective bacterial killing, resulting in infection, mucus obstruction, inflammation and bronchiectasis(Rowe et al., 2005).

关键词： a rare disease emerging in China cystic fibrosis

Importance of neonatal screening:A case study of sickle cell disease and cystic fibrosis coexistence

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World Journal of Clinical Pediatrics 2025年第1期14卷 113-118页

作者： Nathalia Noyma Sampaio Magalhães Lucas Barra Mathiasi Daniela de Oliveira Werneck Rodrigues Department of Pediatrics Faculdade de Ciências Médicas e da Saúde de Juiz de ForaJuiz de Fora 36033-003Brazil Department of Internal Medicine Rede D'Or Rio de JaneiroRio de Janeiro 22270-010Brazil Department of Hematology Fundação HemominasJuiz de Fora 36010-560MGBrazil Department of Internal Medicine Universidade Presidente Antônio Carlos-Faculdade de Medicina Juiz de ForaJuiz de Fora 36010-560Minas GeraisBrazil

BACKGROUND Neonatal screening(NS)is a public health policy to identify genetic pathologies such as cystic fibrosis(CF),sickle cell disease,and other *** cell disea-se is the comprehensive term for a group of hemoglobinopathies characterized by the presence of hemoglobin *** is an autosomal recessive multisystemic disease with pathophysiology involving deleterious mutations in the transmembrane re-gulatory gene that encodes a protein that regulates the activity of chloride and sodium channels in the cell surface *** is crucial for early diagnosis and management,which ensures a better quality of *** To report a case of the coexistence of sickle cell anemia(SCA)and CF and perform an integrative literature *** This is an observational study and a review of the literature focusing on two rare genetic pathologies identified simultaneously in NS from the perspective of a clinical *** authors identified only 5 cases of SCA associated with *** clinical trials or review articles were identified considering the rarity of the coexistence of these two *** Herein,the authors reported the case of a girl who after undergoing NS on day 8 of life was diagnosed with SCA with an alteration in the dosage of immunoreactive *** diagnosis of CF was confirmed by the Coulometry Sweat *** rarity of the co-occurrence of these two severe genetic pathologies(CF and SCA)is a challenge for medical *** This study adds to the few case reports present in the literature that highlight the identification of two severe diseases via NS.

关键词： Sickle cell disease Sickle cell anemia Children cystic fibrosis Neonatal Screening Case reports

cystic fibrosis-related diabetes:The unmet need

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World Journal of Diabetes 2020年第6期11卷 213-217页

作者： Leonardo Pozo Fatimah Bello Yamely Mendez Salim Surani Internal Medicine University of Texas Rio Grande ValleyEdinburgTX 78539United States Research Department Baylor College of MedicineHoustonTexas.77030United States Medical Critical Care Services Corpus Christi Medical CenterCorpus ChristiTX 78404United States

cystic fibrosis(CF)is a common autosomal recessive *** expectancy of patients with CF continues to improve mainly driven by the evolving therapies for CF-related organ *** prevalence of CF-related diabetes(CFRD)increases exponentially as patients’*** care guidelines for CFRD from 2010,recommend insulin as the mainstay of *** patients with CFRD may not require exogenous insulin due to the heterogeneity of this clinical *** of euglycemia by enhancing endogenous insulin production,secretion and degradation with novel pharmacological therapies like glucagonlike peptide-1 agonist is an option that remains to be fully *** such,the scope of this article will focus on our perspective of glucagon-like peptide-1 receptor agonist in the context of *** potential options such as sodiumglucose cotransporter-2 and dipeptidyl peptidase 4 inhibitors and their impact on this patient population is limited and further studies are required.

关键词： cystic fibrosis cystic fibrosis-related diabetes cystic fibrosis transmembrane conductance regulator Gastric inhibitory polypeptide Glucagon-like peptide 1 Glucagon-like peptide-1 receptor agonist Dipeptidyl peptidase 4 inhibitors

cystic fibrosis patients on cystic fibrosis transmembrane conductance regulator modulators have a reduced incidence of cirrhosis

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World Journal of Hepatology 2022年第2期14卷 411-419页

作者： Mitchell L Ramsey Michael R Wellner Kyle Porter Stephen E Kirkby Susan S Li Luis F Lara Sean G Kelly A James Hanje Lindsay A Sobotka Department of Gastroenterology Hepatology and NutritionThe Ohio State University Wexner Medical CenterColumbusOH 43210United States Department of Gastroenterology Hepatology and NutritionThe Ohio State Wexner Medical CenterColumbusOH 43210United States Department of Biostatistics The Ohio State UniversityColumbusOH 43210United States Department of Pulmonary and Critical Care Medicine The Ohio State University Wexner Medical CenterColumbusOH 43210United States Department of Internal Medicine The Ohio State University Wexner Medical CenterColumbusOH 43210United States Department of Gastroenterology Hepatology and NutritionThe Ohio State UniversityColumbusOH 43210United States

BACKGROUND cystic fibrosis transmembrane conductance regulator(CFTR)modulators significantly improve pulmonary function in patients with cystic fibrosis(CF)but the effect on hepatobiliary outcomes remains *** hypothesized that CF patients on CFTR modulators would have a decreased incidence of cirrhosis compared to patients not on CFTR modulators or on *** To investigate the effect of CFTR modulators on the development of cirrhosis in patients with *** A retrospective analysis was performed using Truven MarketScan from January 2012 through December 2017 including all patients with a diagnosis of *** were excluded if they underwent a liver transplantation or if they had other etiologies of liver disease including viral hepatitis or alcohol *** were grouped by use of CFTR modulators,ursodiol,dual therapy,or no *** primary outcome was development of ***-Meier curves estimated the incidence of cirrhosis and log-rank tests compared incidence curves between treatment *** A total of 7201 patients were included,of which 955(12.6%)used a CFTR modulator,529(7.0%)used ursodiol,105(1.4%)used combination therapy,and 5612(74.3%)used neither *** incidence of cirrhosis was 0.1%at 1 year and 0.7%at 4 years in untreated patients,5.9%and 10.1%in the Ursodiol group,and 1.0%and 1.0%in patients who received both *** patient treated with CFTR modulators alone developed *** on CFTR modulators alone had lower cirrhosis incidence than untreated patients(P=0.05),patients on Ursodiol(P<0.001),and patients on dual therapy(P=0.003).The highest incidence of cirrhosis was found among patients treated with Ursodiol alone,compared to untreated patients(P<0.001)or patients on Ursodiol and CFTR modulators(P=0.01).CONCLUSION CFTR modulators are associated with a reduction in the incidence of cirrhosis compared to other therapies in patients with CF.

关键词： Cirrhosis Ursodiol Transmembrane cystic fibrosis Market scan cystic fibrosis related liver disease

Sperm retrieval and intracytoplasmic sperm injection outcomes in men with cystic fibrosis disease versus congenital bilateral absence of the vas deferens

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Asian Journal of Andrology 2021年第2期23卷 140-145页

作者： J Abram McBride Taylor P Kohn Daniel J Mazur Larry I Lipshultz R Matthew Coward Scott Department of Urology Baylor College of MedicineHoustonTX 77030USA Department of Urology UNC School of MedicineChapel HillNC 27599USA UNC Fertility RaleighNC 27617USA

Recent data suggest that cystic fibrosis transmembrane conductance regulator(CFTR)gene alterations negatively impact male fertility beyond *** sought to compare gene alterations,sperm retrieval rates,and intracytoplasmic sperm injection(ICSI)outcomes among men with cystic fibrosis(CF)disease and congenital bilateral absence of the vas deferens(CBAVD)*** retrospectively evaluated all men who underwent surgical sperm retrieval at two academic,high-volume andrology centers from 2010 to *** men with documented CFTR alterations and obstructive azoospermia from either CBAVD or CF were *** between groups for CFTR abnormality,sperm retrieval,and ICSI outcomes were statistically ***,39 patients were included with 10 in the CF and 29 in the CBAVD *** sperm retrieval rates were significantly lower in the CF group for sperm concentration(14.8×10^(6)ml^(-1)vs 61.4×10^(6)ml^(−1),P=0.02)and total motile sperm count(2.9 million vs 11.4 million,P=0.01).This difference was only predicted by homozygous delta F508 CFTR mutations(P<0.05).The CF group also demonstrated a significantly higher rate of rescue testicular sperm extraction(70.0%vs 27.6%,P<0.03)and lower fertilization rate with ICSI(32.5%vs 68.9%,P<0.01).In conclusion,those with CF demonstrated lower sperm quality,greater difficulty with sperm retrieval,and worse ICSI outcomes compared with CBAVD-only *** delta F508 CFTR mutations appear to significantly impair spermatogenesis and sperm function.

关键词： congenital bilateral absence of the vas deferens cystic fibrosis intracytoplasmic sperm injection outcomes male infertility obstructive azoospermia

Novel mutation c.1210-3C>G in cis with a poly-T tract of 5T affects CFTR mRNA splicing in a Chinese patient with cystic fibrosis

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Frontiers of Medicine 2022年第1期16卷 150-155页

作者： Xinyue Zhao Keqiang Liu Wenshuai Xu Meng Xiao Qianli Zhang Jiaxing Song Keqi Chen Yaping Liu Xinlun Tian Kai-Feng Xu Xue Zhang McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular BiologyInstitute of Basic Medical SciencesChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100005China Department of Pulmonary and Critical Care Medicine Peking Union Medical College HospitalChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100730China

cystic fibrosis(CF)is a rare autosomal recessive disease with only one pathogenic gene cystic fibrosis transmembrane conductance regulator(CFTR).To identify the potential pathogenic mutations in a Chinese patient with CF,we conducted Sanger sequencing on the genomic DNA of the patient and his parents and detected all 27 coding exons of CFTR and their flanking intronic *** patient is a compound heterozygote of c.2909G>A,***970Asp in exon 18 and c.1210-3C>G in cis with a poly-T of 5T(T5)sequence,3 bp upstream in intron *** splicing effect of c.1210-3C>G was verified via minigene assay in vitro,indicating that wild-type plasmid containing c.1210-3C together with T7 sequence produced a normal transcript and partial exon 10-skipping-transcript,whereas mutant plasmid containing c.1210-3G in cis with T5 sequence caused almost all mRNA to skip exon ***,c.1210-3C>G,the newly identified pathogenic mutation in our patient,in combination with T5 sequence in cis,affects the CFTR gene splicing and produces nearly no normal transcript in ***,this patient carries a ***970Asp mutation,thus confirming the high-frequency of this mutation in Chinese patients with CF.

关键词： cystic fibrosis CFTR splicing mutation minigene

An LC-MS/MS method for simultaneous analysis of the cystic fibrosis therapeutic drugs colistin,ivacaftor and ciprofloxacin

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Journal of Pharmaceutical Analysis 2021年第6期11卷 732-738页

作者： Huiya Yuan Shihui Yu Guihong Chai Junting Liu Qi(Tony)Zhou School of Forensic Medicine China Medical UniversityShenyang110122China Department of Industrial and Physical Pharmacy College of PharmacyPurdue UniversityWest LafayetteIN47907USA

Inhaled antibiotics such as colistin and ciprofloxacin are increasingly used to treat bacterial lung infections in cystic fibrosis *** this study,we established and validated a new HPLC-MS/MS method that could simultaneously detect drug concentrations of ciprofloxacin,colistin and ivacaftor in rat plasma,human epithelial cell lysate,cell culture medium,and drug transport *** aliquot of200 μL drug-containing rat plasma or cell culture medium was treated with 600 μL of extraction solution(acetonitrile containing 0.1% formic acid and 0.2% trifluoroacetic acid(TFA)).The addition of 0.2% TFA helped to break the drug-protein ***,the addition of 0.1% formic acid to the transport medium and cell lysate samples could significantly improve the response and *** vortexing and centrifuging,the sample components were analyzed by HPLC-MS/*** multiple reaction monitoring mode was used to detect the following transitions:585.5-101.1(colistin A),578.5-101.1(colistin B),393.2-337.2(ivacaftor),332.2-314.2(ciprofloxacin),602.3-101.1(polymyxin B1 as internal standard(IS)) and 595.4-101.1(polymyxin B2 as IS).The running time of a single sample was only 6 min,making this a time-efficient *** correlations were found for colistin A at 0.029-5.82 μg/m L,colistin B at 0.016-3.14 μg/m L,ivacaftor at 0.05-10.0 μg/m L,and ciprofloxacin at 0.043-8.58 μg/m ***,precision,and stability of the method were within the acceptable *** method would be highly useful for research on cytotoxicity,animal pharmacokinetics,and in vitro drug delivery.

关键词： cystic fibrosis Ivacaftor Colistin Ciprofloxacin HPLC-MS/MS Lung epithelial cells Plasma

Chemoattractants and cytokines in primary ciliary dyskinesia and cystic fibrosis: key players in chronic respiratory diseases

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Cellular & Molecular Immunology 2018年第4期15卷 312-323页

作者： Maaike Cockx Mieke Gouwy Jo Van Damme Sofie Struyf Laboratory of Molecular Immunology Department of Microbiology and ImmunologyRega Institute for Medical ResearchUniversity of LeuvenLeuven 3000Belgium

Patients with primary ciliary dyskinesia(PCD)and cystic fibrosis(CF),two inherited disorders,suffer from recurrent airway infections characterized by persistent bacterial colonization and uncontrollable *** present in high counts,neutrophils fail to clear infection in the *** levels of C-X-C motif chemokine ligand 8/interleukin-8(CXCL8/IL-8),the most potent chemokine to attract neutrophils to sites of infection,are detected in the sputum of both patient groups and might cause the high neutrophil influx in the ***,in CF,airway neutrophils are highly activated because of the genetic defect and the high levels of proinflammatory chemoattractants and cytokines(e.g.,CXCL8/IL-8,tumor necrosis factor-αand IL-17).The overactive state of neutrophils leads to lung damage and fuels the vicious circle of infection,excessive inflammation and tissue *** inflammatory process in CF airways is well characterized,whereas the lung pathology in PCD is far less *** knowledge of CF lung pathology could be useful to guide molecular investigations of the inflammatory processes in PCD *** available therapies can not completely remedy the chronic airway infections in these *** review gives an overview of the role that chemoattractants and cytokines play in these neutrophil-dominated lung ***,the most frequently applied treatments in CF and PCD and new experimental therapies to reduce neutrophil-dominated airway inflammation are described.

关键词： chemoattractants cystic fibrosis cytokines primary ciliary dyskinesia

Clinical characterization and diagnosis of cystic fibrosis throughexome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis

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Frontiers of Medicine 2018年第5期12卷 550-558页

作者： Liru Qiu Fengjie Yang Yonghua He Huiqing Yuan Jianhua Zhou Department of Pediatrics Tongji Hospital Tongji Medical College Huazhong University of Science & Technology Wuhan 430030 China

cystic fibrosis (CF) is a fatal autosomal-recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. CF is characterized by recurrent pulmonary infection with obstructive pulmonary disease. CF is common in the Caucasian population but is rare in the Chinese population. The symptoms of early-stage CF are often untypical and may sometimes manifest as Bartter syndrome (BS)-like hypokalemic alkalosis. Therefore, the ability of doctors to differentiate CF from BS-like hypokalemic alkalosis in Chinese infants is a great challenge in the timely and accurate diagnosis of CF. In China, sporadic CF has not been diagnosed in children younger than three years of age to date. Three infants, who were initially admitted to our hospital over the period of June 2013 to September 2014 with BS-like hypokalemic alkalosis, were diagnosed with CF through exome sequencing and sweat chloride measurement. The compound heterozygous mutations of the CFTR gene were detected in two infants, and a homozygous missense mutation was found in one infant. Among the six identified mutations, two are novel point mutations (c.1526G > C and c.3062C > T) that are possibly pathogenic. The three infants are the youngest Chinese patients to have been diagnosed with sporadic CF at a very early stage. Follow-up examination showed that all of the cases remained symptom-free after early intervention, indicating the potential benefit of very early diagnosis and timely intervention in children with CF. Our results demonstrate the necessity of distinguishing CF from BS in Chinese infants with hypokalemic alkalosis and the significant diagnostic value of powerful exome sequencing for rare genetic diseases. Furthermore, our findings expand the CFTR mutation spectrum associated with CF.

关键词： cystic fibrosis pseudo-Bartter syndrome hypokalemic alkalosis CFTR gene mutations infants diagnosis