Zama Daniele, Cocchi Ilaria, Masetti Riccardo, Specchia Fernando, Alvisi Patrizia, Gambineri Eleonora, Lima Mario, Pession Andrea
Pediatric Oncology and Haematology Unit "Lalla Seràgnoli", Department of Pediatrics, University of Bologna Sant'Orsola-Malpighi Hospital, Via Massarenti, 11, Bologna, 40138, Italy.
Pediatric Department, Maggiore Hospital, Bologna, Italy.
Ital J Pediatr. 2014 Oct 18;40:68. doi: 10.1186/s13052-014-0068-4.
The syndrome of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) is a rare disorder caused by mutations in the FOXP3 gene. Diarrhea, diabetes and dermatitis are the hallmark of the disease, with a typical onset within the first months of life. We describe the case of a twelve-year old male affected by a very late-onset IPEX with intractable enteropathy, which markedly improved after starting Sirolimus as second-line treatment. This case suggests that IPEX should always be considered in the differential diagnosis of watery intractable diarrhea, despite its unusual onset.
免疫失调、多内分泌腺病、肠病、X连锁综合征（IPEX）是一种由FOXP3基因突变引起的罕见疾病。腹泻、糖尿病和皮炎是该疾病的特征，通常在生命的最初几个月发病。我们描述了一例12岁男性患者，患有非常晚发的IPEX并伴有难治性肠病，在开始使用西罗莫司作为二线治疗后病情明显改善。该病例表明，尽管发病不寻常，但在鉴别诊断水样难治性腹泻时应始终考虑IPEX。
