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Atypical late-onset severe gastritis in immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome: 2 case reports

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 adolesce...

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Autores principales: Fang, Youhong, Luo, Youyou, Lou, Jingan, Chen, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7837857/
https://www.ncbi.nlm.nih.gov/pubmed/33546062
http://dx.doi.org/10.1097/MD.0000000000024318
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author Fang, Youhong
Luo, Youyou
Lou, Jingan
Chen, Jie
author_facet Fang, Youhong
Luo, Youyou
Lou, Jingan
Chen, Jie
author_sort Fang, Youhong
collection PubMed
description 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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spelling pubmed-78378572021-01-27 Atypical late-onset severe gastritis in immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome: 2 case reports Fang, Youhong Luo, Youyou Lou, Jingan Chen, Jie Medicine (Baltimore) 4500 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. Lippincott Williams & Wilkins 2021-01-22 /pmc/articles/PMC7837857/ /pubmed/33546062 http://dx.doi.org/10.1097/MD.0000000000024318 Text en Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0 (https://creativecommons.org/licenses/by/4.0/)
spellingShingle 4500
Fang, Youhong
Luo, Youyou
Lou, Jingan
Chen, Jie
Atypical late-onset severe gastritis in immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome: 2 case reports
title Atypical late-onset severe gastritis in immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome: 2 case reports
title_full Atypical late-onset severe gastritis in immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome: 2 case reports
title_fullStr Atypical late-onset severe gastritis in immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome: 2 case reports
title_full_unstemmed Atypical late-onset severe gastritis in immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome: 2 case reports
title_short Atypical late-onset severe gastritis in immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome: 2 case reports
title_sort atypical late-onset severe gastritis in immune dysregulation, polyendocrinopathy, enteropathy, and x-linked (ipex) syndrome: 2 case reports
topic 4500
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7837857/
https://www.ncbi.nlm.nih.gov/pubmed/33546062
http://dx.doi.org/10.1097/MD.0000000000024318
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