期刊文献+

A narrative review on the role of genetics in children with acute recurrent pancreatitis and chronic pancreatitis

原文传递
导出
摘要 The incidence of pancreatitis in children has increased over the past two decades.With advances in molecular biological techniques and clinical research,genetic variations have emerged as a pivotal etiological factor in pediatric pancreatitis.This review aims to summarize recent clinical research advancements in understanding pediatric pancreatitis caused by various gene mutations.As of the year 2020,researchers had identified 12 genes implicated in the pathogenesis of pancreatitis.These genes primarily contributed to the development of pancreatitis through three mechanisms.Pancreatitis resulting from these gene mutations exhibits several distinct characteristics,including early onset,a heightened risk of developing pancreatic duct stones,rapid disease progression,and a significantly increased risk of pancreatic endocrine and exocrine dysfunction,as well as pancreatic cancer in the future.Genetic sequencing is recommended for children with pancreatitis based on six indications.The sequencing not only assists in the clinical diagnosis but also enhances our understanding of the pathophysiology of pancreatitis.
出处 《Pediatric Investigation》 CAS CSCD 2023年第4期268-276,共9页 儿科学研究(英文)
  • 相关文献

参考文献4

二级参考文献46

  • 1李娜,王晓茵.儿童急性胰腺炎的诊治进展[J].中国当代儿科杂志,2007,9(4):392-395. 被引量:8
  • 2N. Janicic,E. Soliman,Z. Pausova,M. F. Seldin,M. Rivière,J. Szpirer,C. Szpirer,G. N. Hendy.Mapping of the calcium-sensing receptor gene (CASR) to human Chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat Chromosome 11 and mouse Chromosome 16[J].Mammalian Genome.1995(11) 被引量:1
  • 3Renato Dani,Francisco José Penna,Célio E. D. Nogueira.Etiology of chronic calcifying pancreatitis in Brazil: a report of 329 consecutive cases[J].International Journal of Pancreatology (-).1986(5-6) 被引量:1
  • 4Aoun E,,Chang CC,Greer JB,Papachristou GI,Barmada MM,Whitcomb DC.Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotypeusing meta-analysis[].PLoS ONE.2008 被引量:1
  • 5Aoun E,Slivka A,Papachristou DJ,Gleeson FC,Whitcomb DC,Papachristou GI.Rapid evolution from the f irst episode of acute pancreatitis to chronic pancreatitis in human subjects[].Journal of the Pancreas.2007 被引量:1
  • 6Felderbauer P,Hoffmann P,Klein W,Bulut K,Ansorge N,Epplen JT,Schmitz F,Schmidt WE.Identif ication of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis[].Experimental and Clinical Endocrinology.2005 被引量:1
  • 7Felderbauer P,Klein W,Bulut K,Ansorge N,Dekomien G,Werner I,Epplen JT,Schmitz F,Schmidt WE.Mutations in the calcium-sensing receptor: a new genetic risk factor for chronic pancreatitis?[].Scandinavian Journal of Gastroenterology.2006 被引量:1
  • 8Murugaian EE,,Premkumar RM,Radhakrishnan L,Vallath B.Novel mutations in the calcium sensing receptor gene in tropical chronic pancreatitis in India[].Scandinavian Journal of Gastroenterology.2007 被引量:1
  • 9Janicic N,Soliman E,Pausova Z,Seldin MF,Riviere M,Szpirer J,Szpirer C,Hendy GN.Mapping of the calcium- sensing receptor gene (CASR) to human chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16[].Mammalian Genome.1995 被引量:1
  • 10Pidasheva S,D‘Souza-Li L,Canaff L,Cole DE,Hendy GN.CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia[].Human Mutation.2004 被引量:1

共引文献25

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部