由于PRSS1基因突变导致的四兄弟姐妹遗传性胰腺炎的临床病例

Q3 Medicine

Voprosy Detskoi Dietologii Pub Date : 2023-01-01 DOI:10.20953/1727-5784-2023-3-72-81

M. G. Ipatova, V. V. Kholostova, S.M. Chekh, E. Sergeeva, P. Shumilov, A. Razumovskiy

{"title":"由于PRSS1基因突变导致的四兄弟姐妹遗传性胰腺炎的临床病例","authors":"M. G. Ipatova, V. V. Kholostova, S.M. Chekh, E. Sergeeva, P. Shumilov, A. Razumovskiy","doi":"10.20953/1727-5784-2023-3-72-81","DOIUrl":null,"url":null,"abstract":"Hereditary pancreatitis in children remains a challenging problem in clinical genetics, gastroenterology, and surgery. Genetic causes account for more than 50% of all cases of acute recurrent pancreatitis and 75% of chronic pancreatitis in children. The development of chronic pancreatitis is commonly caused by mutations in the CFTR, PRSS1, SPINK1, CTRC, and CPA1 genes. This article presents a clinical case of hereditary pancreatitis with an autosomal dominant inheritance in 4 siblings, in whom a pathogenic variant in the PRSS1 gene was detected during molecular genetic testing. Key words: hereditary pancreatitis, pathogenic variant, PRSS1 gene, children, siblings","PeriodicalId":53444,"journal":{"name":"Voprosy Detskoi Dietologii","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical case of hereditary pancreatitis in four siblings due to mutations in the PRSS1 gene\",\"authors\":\"M. G. Ipatova, V. V. Kholostova, S.M. Chekh, E. Sergeeva, P. Shumilov, A. Razumovskiy\",\"doi\":\"10.20953/1727-5784-2023-3-72-81\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Hereditary pancreatitis in children remains a challenging problem in clinical genetics, gastroenterology, and surgery. Genetic causes account for more than 50% of all cases of acute recurrent pancreatitis and 75% of chronic pancreatitis in children. The development of chronic pancreatitis is commonly caused by mutations in the CFTR, PRSS1, SPINK1, CTRC, and CPA1 genes. This article presents a clinical case of hereditary pancreatitis with an autosomal dominant inheritance in 4 siblings, in whom a pathogenic variant in the PRSS1 gene was detected during molecular genetic testing. Key words: hereditary pancreatitis, pathogenic variant, PRSS1 gene, children, siblings\",\"PeriodicalId\":53444,\"journal\":{\"name\":\"Voprosy Detskoi Dietologii\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Voprosy Detskoi Dietologii\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.20953/1727-5784-2023-3-72-81\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Voprosy Detskoi Dietologii","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.20953/1727-5784-2023-3-72-81","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 0

摘要

儿童遗传性胰腺炎仍然是临床遗传学、胃肠病学和外科的一个具有挑战性的问题。遗传原因占所有急性复发性胰腺炎病例的50%以上，占儿童慢性胰腺炎的75%。慢性胰腺炎的发生通常是由CFTR、PRSS1、SPINK1、CTRC和CPA1基因突变引起的。本文报道一例常染色体显性遗传的4个兄弟姐妹的遗传性胰腺炎的临床病例，在分子基因检测中检测到PRSS1基因的致病变异。关键词:遗传性胰腺炎，致病变异，PRSS1基因，儿童，兄弟姐妹

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Clinical case of hereditary pancreatitis in four siblings due to mutations in the PRSS1 gene

Hereditary pancreatitis in children remains a challenging problem in clinical genetics, gastroenterology, and surgery. Genetic causes account for more than 50% of all cases of acute recurrent pancreatitis and 75% of chronic pancreatitis in children. The development of chronic pancreatitis is commonly caused by mutations in the CFTR, PRSS1, SPINK1, CTRC, and CPA1 genes. This article presents a clinical case of hereditary pancreatitis with an autosomal dominant inheritance in 4 siblings, in whom a pathogenic variant in the PRSS1 gene was detected during molecular genetic testing. Key words: hereditary pancreatitis, pathogenic variant, PRSS1 gene, children, siblings

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Voprosy Detskoi Dietologii Medicine-Pediatrics, Perinatology and Child Health

CiteScore

1.20

自引率

0.00%

发文量

期刊介绍： The scientific journal Voprosy Detskoi Dietologii is included in the Scopus database. Publisher country is RU. The main subject areas of published articles are Food Science, Pediatrics, Perinatology, and Child Health, Nutrition and Dietetics, Клиническая медицина.