期刊
MEDICINE
卷 100, 期 3, 页码 -出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MD.0000000000024318
关键词
case report; FOXP3; gastritis; IPEX syndrome; pylorus stenosis
资金
- Natural Science Foundation of Zhejiang Province, China [LQ19H030005]
IPEX syndrome is a rare disorder that can manifest early or late in life. Severe gastritis causing vomiting and malnutrition may be a symptom of IPEX syndrome, and next-generation sequencing is useful for diagnosis of atypical cases.
Rationale: The immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome is a rare disorder that most often manifests in the early stages of life. IPEX syndrome with a late onset, presenting with severe gastritis has rarely been reported. Patient concerns: Two male adolescents presented with recurrent vomiting, severe malnutrition, and growth retardation due to severe gastritis. Diagnoses: Esophagogastroduodenoscopy of the 2 patients revealed rare presentations of severe gastritis with multiple ulcers and stenosis of the pylorus. Next-generation sequencing revealed 2 novel variants in gene FOXP3 in the patients who were diagnosed with the IPEX syndrome. Interventions: Both patients were treated with a high calorie formular enteral nutritional therapy. In addition, the pylorus of patient 1 was enlarged by balloon dilation, while patient 2 was treated with mercaptopurine and low dose prednisone. Outcomes: Symptoms and nutritional status of the patients improved after treatment. Lessons: Chronic severe gastritis with stenosis of the pylorus could be an atypical manifestation of the IPEX syndrome. The use of next-generation sequencing is highly suitable for the diagnosis of atypical IPEX syndromes.
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