Shangaris Panicos, Ho Alison, Marnerides Andreas, George Simi, AlAdnani Mudher, Yau Shu, Jansson Mattias, Hoyle Jacqueline, Ahn Joo Wook, Ellard Sian, Irving Melita, Wellesley Diana, Pasupathy Dharmintra, Holder-Espinasse Muriel
Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, 10th Floor North Wing, St Thomas' Hospital, Westminster Bridge Road, London, SE1 7EH, UK.
Department of Histopathology, St Thomas Hospital, Westminster Bridge Road, London, SE17EH, UK.
BMC Med Genomics. 2021 Feb 26;14(1):58. doi: 10.1186/s12920-021-00901-6.
Fetal hydrops is excessive extravasation of fluid into the third space in a fetus, which could be due to a wide differential of underlying pathology. IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome primarily affects males. It is a monogenic primary immunodeficiency syndrome of X-linked recessive inheritance due to FOXP3 gene variants. It is characterised by the development of multiple autoimmune disorders in affected individuals.
We present a rare cause of male fetal hydrops in the context of IPEX syndrome and discuss FOXP3 gene variants as a differential for 'unexplained' fetal hydrops that may present after the first trimester.
In all similar cases, the pathological process begins during intrauterine life. Furthermore, there are no survivors described. Consequently, this variant should be considered as a severe one, associated with intrauterine life onset and fatal course, i.e., the most severe IPEX phenotype.
胎儿水肿是指胎儿体内液体过度渗入第三间隙，其潜在病因广泛。IPEX（免疫失调、多内分泌腺病、肠病、X连锁）综合征主要影响男性。它是一种由于FOXP3基因变异导致的X连锁隐性遗传的单基因原发性免疫缺陷综合征。其特征是受影响个体出现多种自身免疫性疾病。
我们介绍了IPEX综合征背景下男性胎儿水肿的罕见病因，并讨论了FOXP3基因变异作为孕早期后可能出现的“不明原因”胎儿水肿的鉴别诊断。
在所有类似病例中，病理过程始于子宫内生命期。此外，尚无幸存者的描述。因此，这种变异应被视为严重变异，与子宫内发病和致命病程相关，即最严重的IPEX表型。
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