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小儿胰腺炎中的遗传问题。

Genetic issues in pediatric pancreatitis.

作者信息

Kandula Leena, Whitcomb David C, Lowe Mark E

机构信息

Department of Pediatrics, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, 2nd Floor DeSoto Bldg., Pittsburgh, PA 15213, USA.

出版信息

Curr Gastroenterol Rep. 2006 Jun;8(3):248-53. doi: 10.1007/s11894-006-0083-8.

Abstract

The number of hospitalizations in children with acute and chronic pancreatitis is increasing and accounts for significant morbidity. Acute pancreatitis is a reversible event involving diffuse inflammation of the pancreas with variable involvement of other regional tissues, remote organs, or both, whereas chronic pancreatitis is a process that produces irreversible changes in the pancreatic structure and function. Mutations in the gene encoding cationic trypsinogen have recently been identified to be associated with hereditary pancreatitis. Genetic mutations in the pancreatic secretory trypsin inhibitor and the cystic fibrosis transmembrane conductance regulator have been described to play a role in the development of pancreatitis as well. Mutations in the cytokine target genes relating to regulation of inflammation are likely to be important in determining the severity of pancreatitis. These findings, along with the advances in cell biology, have contributed to a better understanding of the pathophysiology of pancreatic diseases.

摘要

急性和慢性胰腺炎患儿的住院人数正在增加,且发病率颇高。急性胰腺炎是一种可逆性病症,涉及胰腺的弥漫性炎症,其他局部组织、远处器官或两者可能会不同程度受累,而慢性胰腺炎则是一个会导致胰腺结构和功能发生不可逆变化的过程。最近已确定,编码阳离子胰蛋白酶原的基因突变与遗传性胰腺炎有关。胰腺分泌性胰蛋白酶抑制剂和囊性纤维化跨膜传导调节因子的基因突变也被认为在胰腺炎的发展过程中起作用。与炎症调节相关的细胞因子靶基因突变在确定胰腺炎的严重程度方面可能很重要。这些发现,连同细胞生物学的进展,有助于更好地理解胰腺疾病的病理生理学。

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