BMC pediatrics · 2024
Sirolimus alleviated intractable diarrhea of IPEX syndrome: a case report and literature review.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод в очереди
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Ye Lin, Song Xue, Cui Yun, Wu Shengnan, Wang Yizhong, Zhang Ting, Weng Wenhao, Ge Ting
Аннотация
BACKGROUND: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare single-gene X-linked immunodeficiency disease caused by mutations in the forkhead box protein 3 (FOXP3) gene. The typical clinical manifestations of IPEX mainly include severe atopic dermatitis, insulin-dependent type 1 diabetes mellitus, and intractable diarrhea.
CASE PRESENTATION: Here, we report a boy with intractable diarrhea diagnosed with early-onset IPEX syndrome due to the c.434C > T (p.Ala145Val) mutation in exon 4 of the FOXP3 gene. The patient experienced intractable diarrhea and severe weight loss, and his clinical symptoms could not be alleviated by conventional supportive and anti-infection treatment. Sirolimus, an immunosuppressant, preferentially inhibits effector T cells while allowing the proliferation of Tregs and is used to treat IPEX patients and alleviate intractable diarrhea.
CONCLUSION: We reviewed the literature on the use of sirolimus for the treatment of IPEX syndrome over the past two decades.
CASE PRESENTATION: Here, we report a boy with intractable diarrhea diagnosed with early-onset IPEX syndrome due to the c.434C > T (p.Ala145Val) mutation in exon 4 of the FOXP3 gene. The patient experienced intractable diarrhea and severe weight loss, and his clinical symptoms could not be alleviated by conventional supportive and anti-infection treatment. Sirolimus, an immunosuppressant, preferentially inhibits effector T cells while allowing the proliferation of Tregs and is used to treat IPEX patients and alleviate intractable diarrhea.
CONCLUSION: We reviewed the literature on the use of sirolimus for the treatment of IPEX syndrome over the past two decades.