Sheikine Yuri, Woda Craig B, Lee Pui Y, Chatila Talal A, Keles Sevgi, Charbonnier Louis-Marie, Schmidt Birgitta, Rosen Seymour, Rodig Nancy M
Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, 02215, USA,
Pediatr Nephrol. 2015 Jul;30(7):1197-202. doi: 10.1007/s00467-015-3102-x. Epub 2015 Apr 25.
Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder is an autoimmune disease caused by loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor. These mutations affect the normal function of circulating regulatory T cells. IPEX is characterized by profound immune dysregulation leading to dermatitis, enteropathy, multiple endocrinopathies and failure to thrive. Different forms of renal injury have also been noted in these patients but these have been described to a very limited extent.
CASE-DIAGNOSIS: Three patients with IPEX with characteristic renal findings and mutations in FOXP3, including one novel mutation, are described. Case presentations are followed by a review of the renal manifestations noted in IPEX and the range of therapeutic options for this disorder.
We recommend that IPEX be considered in the differential diagnosis of young children who present with signs of immune dysregulation with a concomitant renal biopsy demonstrating immune complex deposition in a membranous-like pattern and/or interstitial nephritis.
免疫失调、多内分泌腺病、肠病、X连锁（IPEX）综合征是一种自身免疫性疾病，由编码叉头框P3（FOXP3）转录因子的基因功能丧失性突变引起。这些突变影响循环调节性T细胞的正常功能。IPEX的特征是严重的免疫失调，导致皮炎、肠病、多种内分泌腺病和生长发育迟缓。这些患者中也观察到不同形式的肾损伤，但对此的描述非常有限。
描述了3例具有特征性肾脏表现且FOXP3基因发生突变（包括1个新突变）的IPEX患者。病例报告之后，回顾了IPEX中 noted的肾脏表现以及该疾病的一系列治疗选择。
我们建议，对于出现免疫失调体征的幼儿，在鉴别诊断时应考虑IPEX，同时进行肾活检，若显示免疫复合物呈膜样沉积和/或间质性肾炎，则可诊断。
