期刊
JOURNAL OF CROHNS & COLITIS
卷 10, 期 1, 页码 112-115出版社
OXFORD UNIV PRESS
DOI: 10.1093/ecco-jcc/jjv186
关键词
X-chromosomal chronic granulomatous disease; inflammatory bowel disease; allogeneic haematopoietic stem cell transplantation
资金
- Care-for-Rare Foundation at the Dr von Hauner Children's Hospital, Munich, Germany
Background and Aims: X-linked chronic granulomatous disease [X-CGD] due to hemizygous mutations in CYBB is characterised by invasive bacterial and fungal infections and granulomatous inflammation. Inflammatory bowel disease [IBD] is an additional or isolated manifestation. Allogeneic haematopoietic stem cell transplantation [alloHSCT] is the standard curative treatment. X-CGD carriers are usually healthy but those with non-random X-chromosome inactivation [XCI] may develop infectious or autoinflammatory manifestations. Methods and Results: We report on two female patients with severe treatment-refractory Crohnlike IBD manifesting at age 23 and 8 years, respectively. NADPH-oxidase activity testing and molecular genetics proved X-CGD carrier status with non-random XCI. As in CGD, histopathology from colonic biopsies disclosed pigment-laden macrophages and reduced CD68+ macrophages. Following submyelo-ablative conditioning, the younger patient was treated with alloHSCT at age 20 years. She came into remission within 3 months after transplantation and shows complete mucosal healing after 16 months off all medications. Conclusions: We suggest that children and young adults with refractory IBD should mandatorily be tested for CGD. AlloHSCT should be considered as curative therapy in severely diseased female carriers of X-CGD with non-random XCI.
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