Exome analysis for Cronkhite-Canada syndrome: A case report  

作　　者：Zhao-Dong Li Li Rong Yuan-Jing He Yu-Zhu Ji Xiang Li Fang-Zhou Song Xiao-An Li 

机构地区：[1]Department of Gastroenterology,Mianyang Central Hospital,Mianyang Central Hospital,Mianyang 621000,Sichuan Province,China [2]Basic Medicine College,Chongqing Medical University,Chongqing Medical University,Chongqing 410000,China [3]Department of Gastroenterology,Bishan Hospital of Chongqing Medical University/Bishan Hospital of Chongqing,Chongqing 402760,Sichuan Province,China [4]Department of Pathology,Mianyang Central Hospital,Mianyang 621000,Sichuan Province,China [5]Department of Cardiovascular Medicine,The First Affiliated Hospital of Chongqing Medical University,Chongqing 410000,China [6]Basic Medicine College,Chongqing Medical University,Chongqing City 410000,China

出　　处：《World Journal of Clinical Cases》2022年第24期8634-8640,共7页世界临床病例杂志

摘　　要：BACKGROUND Cronkhite-Canada syndrome(CCS)is a rare,non-genetic disorder characterized by multiple gastrointestinal polyps,and ectodermal lesions such as alopecia,fingernail atrophy,and skin mucosal pigmentation.Unfortunately,the pathogenesis of CCS is currently unknown.CASE SUMMARY Here,we describe the case of an elderly female with diarrhea,fatigue,and hair loss,who experienced abdominal pain for over half a year and was found to have multiple gastrointestinal polyps.She was diagnosed with CCS and was treated with albumin supplementation and prednisone,and her electrolyte imbalance was corrected.Following treatment,her symptoms significantly improved.To elucidate the role of potential genetic events in the pathogenesis of CCS,we performed exome sequencing using an extract of her colorectal adenoma.CONCLUSION Our data revealed multiple somatic mutations and copy number variations.Our findings provide a novel insight into the potential mechanisms of CCS etiology.

关 键 词：Whole exome sequencing Cronkhite-Canada syndrome Somatic mutations Case report 

分 类 号：R597[医药卫生—内科学]