Granulomatous Colitis Due to Hermansky-Pudlak Syndrome

被引：0

作者：

Koulali, Hajar ^{[1
,2
]}

Azzmouri, Samira ^{[1
,2
]}

Tajir, Mariam ^{[3
]}

Zerrouki, Khawla ^{[3
]}

Haloui, Anass ^{[4
]}

Elmqaddem, Ouiam ^{[1
,2
]}

Zazour, Abdelkrim ^{[1
,2
]}

Ismaili, Zahi ^{[1
,2
]}

Kharrasse, Ghizlane ^{[1
,2
]}

机构：

[1] Mohammed VI Univ Hosp, Dept Hepatogastroenterol, Oujda, Morocco

[2] Mohammed First Univ, Fac Med & Pharm, Digest Dis Res Lab DSRL, Oujda, Morocco

[3] Univ Mohammed Premier, Lab Genet Med, Lab Cent, Fac Med Pharm Oujda,Ctr Hosp Univ Mohammed VI, Oujda, Morocco

[4] Mohammed 1st Univ, Mohammed VI Univ Hosp, Fac Med, Dept Pathol, Oujda, Morocco

来源：

ACG CASE REPORTS JOURNAL | 2024年 / 11卷 / 11期

关键词：

granulomatous; colitis; Hermansky-Pudlak syndrome; CROHNS-DISEASE; ENTEROCOLITIS; MANAGEMENT;

D O I：

10.14309/crj.0000000000001477

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

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.

引用

页数：5

共 50 条

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Weitz, Nicole
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