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Delivering on the promise of gene editing for cystic fibrosis

genes & Diseases 2019年第2期6卷 97-108页

作者： Craig A.Hodges Ronald A.Conlon Department of Pediatrics Case Western Reserve UniversityClevelandOHUSA Department of genetics and Genome Sciences Case Western Reserve UniversityClevelandOHUSA

In this review,we describe a path for translation of gene editing into therapy for cystic fibrosis(CF).Cystic fibrosis results from mutations in the cftr gene,with one allele predominant in patient *** simple,genetic etiology makes gene editing appealing for treatment of this *** already have been success in applying this approach to cystic fibrosis in cell and animal models,although these advances have been modest in comparison to advances for other *** than six years after its first demonstration in animals,CRISPR/Cas gene editing is in early clinical trials for several *** clinical trials,thus far,attempt to edit genes in cells of the blood *** advantage of the blood is that the stem cells are known,can be isolated,edited,selected,expanded,and returned to the *** likely next trials will be in the liver,which is accessible to many delivery *** cystic fibrosis,the biggest hurdle is to deliver editors to other,less accessible *** outline a path by which delivery can be *** translation of new therapies doesn’t occur in isolation,and the development of gene editors is occurring as advances in gene therapy and small molecule therapeutics are being *** advances made in gene therapy may help develop delivery vehicles for gene editing,although major improvements are ***,the approval of effective small molecule therapies for many patients with cystic fibrosis will raise the bar for translation of gene editing.

关键词： cftr gene CRISPR/Cas9 Cystic fibrosis gene editing gene therapy

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Screening strategy for gastrointestinal and hepatopancreatobiliary cancers in cystic fibrosis

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World Journal of Gastrointestinal Oncology 2021年第9期13卷 1121-1131页

作者： Brett Hoskins Paul Wasuwanich Ann O Scheimann Wikrom Karnsakul Division of Pediatric Gastroenterology Hepatologyand NutritionDepartment of PediatricsThe Johns Hopkins University School of MedicineBaltimoreMD 21287United States Department of Medicine University of Florida College of MedicineGainesvilleFL 32610United States

Based on systematic review and meta-analysis,the risk for developing cancers in patients with cystic fibrosis(CF)is known to be significantly greater than in the general population,including site-specific cancers of the esophagus,small bowel,colon,liver,biliary tract,and *** even higher risk has been found in patients who have severe CF transmembrane conductance regulator(cftr)genotypes or who have undergone organ transplantation and are *** risk continues to rise as life expectancies steadily climb due to advancements in medical care and treatment for *** colorectal cancer risk is at such a high level that CF has now been declared a hereditary colon cancer syndrome by the Cystic Fibrosis *** cftr gene has been stronglyassociated with the development of gastrointestinal(GI)cancers and mortality in the CF *** CF carriers have shown an increased rate of GI cancers compared to the general *** limitations exist with the reported guidelines for screening of GI and hepatopancreatobiliary cancers in the CF population,which are largely universal and are still *** is a need for more precise screening based on specific risk factors,including cftr mutation,medical co-morbidities(such as gastroesophageal reflux disease,distal intestinal obstruction syndrome,and diabetes mellitus),familial risks for each cancer,gender,age,and other *** this review,we propose changes to the guidelines for GI screening of patients with *** the development of cftr modulators,additional studies are necessary to elucidate if there is an effect on cancer risk.

关键词： Colorectal cancer cftr gene Cystic fibrosis Gastrointestinal cancer Hepatopancreatobiliary cancer Screening

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Type II Abernethy malformation with cystic fibrosis in a 12-year-old girl:A case report

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World Journal of Clinical Cases 2023年第32期11卷 7865-7871页

作者： Li-Jie Zhang Xing-Yu Liu Teng-Fei Chen Zhong-Ya Xu Han-Jun Yin Xuzhou Medical University Xuzhou 221000Jiangsu ProvinceChina Department of Pediatric Surgery The First Affiliated Hospital of Bengbu Medical CollegeBengbu 233000Anhui ProvinceChina Department of general Surgery Nanjing Drum Tower Hospital Group Suqian HospitalSuqian 223800Jiangsu ProvinceChina Department of Pediatric Surgery Children's Hospital of Nanjing Medical UniversityNanjing 210000China Department of Pediatrics Nanjing Drum Tower Hospital Group Suqian HospitalSuqian 223800Jiangsu ProvinceChina

BACKGROUND Abernethy malformation,also known as congenital extrahepatic portosystemic shunt,is an uncommon malformation resulting from aberrant development of the portal venous *** fibrosis(CF)is an autosomal recessive genetic disease caused by mutations in the cftr *** mainly affects the exocrine glands of the respiratory,digestive and reproductive *** is considered extremely rare in the Asian *** present a clinical case involving a pediatric patient of Asian descent who was diagnosed with Abernethy malformation and *** SUMMARY A 12-year-old girl presented with a medical history of recurring respiratory infections and hemoptysis,and chest computed tomography(CT)showed *** exome sequencing was performed for the patient,yielding findings that revealed a compound heterozygous variant of the cftr gene:c.233_c.234insT/***79fsTer3(maternal origin);c.2909G>A/***970Asp(paternal origin).CF was *** physician’s attention was drawn to the presence of splenomegaly during disease *** enhanced CT revealed splenomegaly,compression of the left kidney,and multiple tortuous dilated vascular shadows were seen at the splenic hilum,which flowed back into the left renal vein and portal vein,suggesting Abernethy malformation type ***,the abnormal blood flow was seen to merge into the inferior vena cava through the left renal vein without hepatic processing,and the pathology of liver biopsy showed hypoplastic,dilated or absent portal vein branches,both of which supported the diagnosis of Abernethy malformation type *** represents the initial documented instance of Abernethy malformation accompanied by a cftr gene mutation in the existing body of *** Coexisting Abernethy malformation and CF are *** medical history information,abdominal enhanced CT,venography and genetic testing contribute to diagnosis as well as differential diagnosis.

关键词： Abernethy malformation Cystic fibrosis cftr gene Case report

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