Inflammatory bowel disease in Shwachman-Diamond syndrome; is there an association?

被引：4

作者：

Nissen, Loes H. C. ^{[1
]}

Stuurman, Kyra E. ^{[2
]}

van der Feen, Cathelijne ^{[3
]}

Kemperman, Frits A. ^{[4
]}

Pruijt, Johannes F. M. ^{[4
]}

de Jonge, Hendrik J. M. ^{[1
]}

机构：

[1] Jeroen Bosch Ziekenhuis, Dept Gastroenterol & Hepatol, Henri Dunantstr 1, NL-5223 GZ Shertogenbosch, Netherlands

[2] Univ Med Ctr Rotterdam, Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

[3] Jeroen Bosch Ziekenhuis, Dept Pediat, Shertogenbosch, Netherlands

[4] Jeroen Bosch Ziekenhuis, Dept Internal Med, Shertogenbosch, Netherlands

来源：

CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY | 2020年 / 44卷 / 01期

关键词：

Inflammatory bowel disease; Swachman Diamond syndrome; SBDS;

D O I：

10.1016/j.clinre.2019.05.006

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency with malabsorption, malnutrition, growth failure and bone marrow failure. Furthermore, duodenal inflammatory enteropathy features may be present. For the first time, we report here a SDS case that is also diagnosed with inflammatory bowel disease (IBD). He was diagnosed with SDS at the age of two based on poor growth, severe exocrine pancreatic insufficiency with steatorrhea, neutropenia, recurrent infections and thoracic skeletal abnormalities. Ileocolonoscopy and histopathology revealed colonic Crohn's disease at the age of sixteen. Our report may encourage further studies elucidating the possible association between the SDS genetic defect and inflammatory bowel disease. (C) 2019 Elsevier Masson SAS. All rights reserved.

引用

页码：E10 / E13

页数：4

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