[A case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome with very early onset inflammatory bowel disease-like changes]

W T Bao; Z L Li; J Li; X Y Shi; J Zhang; H Wu

doi:10.3760/cma.j.issn.0578-1310.2019.07.013

[A case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome with very early onset inflammatory bowel disease-like changes]

Zhonghua Er Ke Za Zhi. 2019 Jul 2;57(7):559-561. doi: 10.3760/cma.j.issn.0578-1310.2019.07.013.

[Article in Chinese]

Authors

W T Bao¹, Z L Li¹, J Li², X Y Shi³, J Zhang¹, H Wu¹

Affiliations

¹ Department of Pediatrics, Peking University Third Hospital, Beijing 100191, China.
² Department of Gastroenterology, Peking University Third Hospital, Beijing 100191, China.
³ Department of Pathology, Peking University Third Hospital, Beijing 100191, China.

PMID: 31269558
DOI: 10.3760/cma.j.issn.0578-1310.2019.07.013

Abstract

1例患儿6月龄起病，以反复腹泻、便血，伴有营养不良、贫血、肛瘘为主要表现，初诊为极早发型炎症性肠病，经过抗感染、营养治疗、生物制剂、美沙拉嗪及激素治疗后效果不佳，完善二代基因测序证实为X连锁多内分泌腺病肠病伴免疫失调（IPEX）综合征。停止治疗后随访至4岁，患儿症状自发缓解。以极早发型炎症性肠病样表现为主要特征且症状自发缓解的IPEX综合征尚未见中文报道。.

Publication types

Case Reports

MeSH terms

Age of Onset
Diabetes Mellitus, Type 1 / congenital*
Diabetes Mellitus, Type 1 / diagnosis
Diabetes Mellitus, Type 1 / genetics
Diabetes Mellitus, Type 1 / immunology
Diabetes Mellitus, Type 1 / therapy
Diarrhea / diagnosis*
Diarrhea / genetics
Diarrhea / immunology*
Diarrhea / therapy
Forkhead Transcription Factors / genetics*
Genetic Diseases, X-Linked / complications*
Genetic Diseases, X-Linked / diagnosis
Genetic Diseases, X-Linked / genetics*
Genetic Diseases, X-Linked / immunology
Genetic Diseases, X-Linked / therapy
Humans
Immune System Diseases / congenital*
Immune System Diseases / diagnosis
Immune System Diseases / genetics
Immune System Diseases / immunology
Immune System Diseases / therapy
Inflammatory Bowel Diseases / diagnosis*

Substances

Forkhead Transcription Factors

Supplementary concepts

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome