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慢性胰腺炎的遗传基础。

Genetic basis of chronic pancreatitis.

作者信息

Jansen J B M J, te Morsche R, van Goor H, Drenth J P H

机构信息

Dept. of Gastroenterology, UMC St. Radboud, Nijmegen, The Netherlands.

出版信息

Scand J Gastroenterol Suppl. 2002(236):91-4. doi: 10.1080/003655202320621535.

Abstract

BACKGROUND

Pancreatitis has a proven genetic basis in a minority of patients.

METHODS

Review of the literature on genetics of pancreatitis.

RESULTS

Ever since the discovery that in most patients with hereditary pancreatitis a mutation in the gene encoding for cationic trypsinogen (R122H) was found that results in a gain of trypsin function', many other mutations in the cationic trypsinogen gene, as well as in the gene encoding for pancreatic secretory trypsin inhibitor, have been found in patients with chronic pancreatitis. Furthermore, mutations in other genes, like the mucoviscoidosis-gene encoding for a chloride channel, and in genes encoding for enzymes involved in the metabolism of ethanol, have been linked to chronic pancreatitis. This article reviews the highlights that have been achieved in this field of pancreatic research.

CONCLUSIONS

Recent data suggest that genetics may play a role in the pathogenesis of pancreatitis.

摘要

背景

胰腺炎在少数患者中具有已被证实的遗传基础。

方法

回顾关于胰腺炎遗传学的文献。

结果

自从发现大多数遗传性胰腺炎患者中编码阳离子胰蛋白酶原的基因(R122H)发生突变会导致胰蛋白酶功能增强以来,在慢性胰腺炎患者中还发现了阳离子胰蛋白酶原基因以及胰腺分泌性胰蛋白酶抑制剂编码基因中的许多其他突变。此外,其他基因的突变,如编码氯离子通道的黏多糖病基因以及编码参与乙醇代谢的酶的基因,也与慢性胰腺炎有关。本文回顾了胰腺研究领域所取得的重要成果。

结论

近期数据表明遗传学可能在胰腺炎的发病机制中起作用。

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