赫尔曼斯基-普德拉克综合征引起的肉芽肿性结肠炎

IF 0.6 Q4 GASTROENTEROLOGY & HEPATOLOGY

ACG Case Reports Journal Pub Date : 2024-10-31 eCollection Date: 2024-11-01 DOI:10.14309/crj.0000000000001477

Hajar Koulali, Samira Azzmouri, Mariam Tajir, Khawla Zerrouki, Anass Haloui, Ouiam Elmqaddem, Abdelkrim Zazour, Zahi Ismaili, Ghizlane Kharrasse

{"title":"赫尔曼斯基-普德拉克综合征引起的肉芽肿性结肠炎","authors":"Hajar Koulali, Samira Azzmouri, Mariam Tajir, Khawla Zerrouki, Anass Haloui, Ouiam Elmqaddem, Abdelkrim Zazour, Zahi Ismaili, Ghizlane Kharrasse","doi":"10.14309/crj.0000000000001477","DOIUrl":null,"url":null,"abstract":"Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder characterized by oculocutaneous albinism, bleeding diathesis, and multiorgan involvement. Granulomatous enterocolitis may occur in a subset of patients. Distinguishing HPS from other diseases such as Crohn's disease can be challenging, and managing HPS-associated colitis is complex. Recent reports suggest potential efficacy of infliximab in treating HPS-related granulomatous colitis. Here, we document the case of a 27-year-old patient with genetically confirmed HPS type 1, presenting with granulomatous colitis and successfully treated with corticosteroids and infliximab.","PeriodicalId":7394,"journal":{"name":"ACG Case Reports Journal","volume":"11 11","pages":"e01477"},"PeriodicalIF":0.6000,"publicationDate":"2024-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11527421/pdf/","citationCount":"0","resultStr":"{\"title\":\"Granulomatous Colitis Due to Hermansky-Pudlak Syndrome.\",\"authors\":\"Hajar Koulali, Samira Azzmouri, Mariam Tajir, Khawla Zerrouki, Anass Haloui, Ouiam Elmqaddem, Abdelkrim Zazour, Zahi Ismaili, Ghizlane Kharrasse\",\"doi\":\"10.14309/crj.0000000000001477\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder characterized by oculocutaneous albinism, bleeding diathesis, and multiorgan involvement. Granulomatous enterocolitis may occur in a subset of patients. Distinguishing HPS from other diseases such as Crohn's disease can be challenging, and managing HPS-associated colitis is complex. Recent reports suggest potential efficacy of infliximab in treating HPS-related granulomatous colitis. Here, we document the case of a 27-year-old patient with genetically confirmed HPS type 1, presenting with granulomatous colitis and successfully treated with corticosteroids and infliximab.\",\"PeriodicalId\":7394,\"journal\":{\"name\":\"ACG Case Reports Journal\",\"volume\":\"11 11\",\"pages\":\"e01477\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2024-10-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11527421/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"ACG Case Reports Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.14309/crj.0000000000001477\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/11/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"GASTROENTEROLOGY & HEPATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"ACG Case Reports Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14309/crj.0000000000001477","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

赫尔曼斯基-普德拉克综合征（HPS）是一种罕见的遗传性疾病，以眼部白化病、出血病和多器官受累为特征。部分患者可能会出现肉芽肿性小肠结肠炎。将 HPS 与克罗恩病等其他疾病区分开来可能具有挑战性，而 HPS 相关性结肠炎的治疗也很复杂。最近的报道表明，英夫利西单抗对治疗 HPS 相关肉芽肿性结肠炎具有潜在疗效。在此，我们记录了一例 27 岁的 1 型 HPS 患者的病例，该患者经基因证实患有肉芽肿性结肠炎，并成功接受了皮质类固醇和英夫利昔单抗的治疗。

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

Granulomatous Colitis Due to Hermansky-Pudlak Syndrome.

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder characterized by oculocutaneous albinism, bleeding diathesis, and multiorgan involvement. Granulomatous enterocolitis may occur in a subset of patients. Distinguishing HPS from other diseases such as Crohn's disease can be challenging, and managing HPS-associated colitis is complex. Recent reports suggest potential efficacy of infliximab in treating HPS-related granulomatous colitis. Here, we document the case of a 27-year-old patient with genetically confirmed HPS type 1, presenting with granulomatous colitis and successfully treated with corticosteroids and infliximab.

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

ACG Case Reports Journal GASTROENTEROLOGY & HEPATOLOGY-

自引率

14.30%

发文量

170

审稿时长

12 weeks

期刊介绍： ACG Case Reports Journal is a peer-reviewed, open-access publication that provides GI and hepatology fellows, private practice clinicians, and other healthcare providers an opportunity to share interesting case reports with their peers and with leaders in the field. ACG Case Reports Journal publishes case reports, images, videos and letters to the editor in all topics of gastroenterology and hepatology, including: Biliary Colon Endoscopy Esophagus Functional Bowel Disorders Inflammatory Bowel Disease Liver Nutrition and Obesity Pancreas Pathology Pediatric Small Bowel Stomach.