穿孔素1复合杂合突变致非免疫性胎儿水肿1 例并文献回顾

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摘要对穿孔素1（PRF1）复合杂合突变致非免疫性胎儿水肿临床、实验室及遗传资料进行分析，检索综述PRF1突变与非免疫性胎儿水肿、家族性噬血细胞淋巴组织增生症与非免疫性胎儿水肿相关文献。在一例复发性非免疫性胎儿水肿病例发现PRF1 基因新的杂合变异组合c. 03G＞A（p.S168N）和c.1070G＞A（p.R357Q）。文献检索结果显示，PRF1 致病性基因突变可致胎儿非免疫性水肿。在胎儿水肿的鉴别诊断和新生儿多器官功能衰竭的早期诊断中应考虑家族性噬血细胞淋巴组织增生症，尤其是在找不到感染或代谢原因的情况下。噬血细胞淋巴组织增生症的相关致病基因应纳入非免疫性胎儿水肿的候选基因。本文报道1 例PRF1 复合杂合突变致非免疫性胎儿水肿临床特征并对其进行病因分析。

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关键词 ：非免疫性胎儿水肿, 家族性噬血细胞淋巴组织增生症, 穿孔素1, 复合杂合突变

Abstract： The clinical, laboratory and genetic data of non-immune fetal edema caused by perforin 1 (PRF1) complex heterozygous mutation were analyzed. A literature review was conducted on PRF1 mutation and non-immune fetal edema, familial hemophagocytic lymphohistiocytosis and non-immune fetal edema related articles. A new heterozygous combination of PRF1 genes c.503G＞A (p.S168N) and c.1070G＞A (p.R357Q) was found in a recurrent non-immune fetal edema. Literature retrieving shows that PRF1 pathogenic gene mutations can cause fetal non-immune edema. Familial hemophagocytic lymphohistiocytosis should be considered in the differential diagnosis of fetal edema and early diagnosis of multiple organ failure in the newborns, especially lack of reasons for infection or metabolism. Pathogenic genes related to hemophagocytic lymphohistiocytosis should be included as candidate genes for non-immune fetal edema. This paper reported the clinical characteristics of non-immune fetal edema caused by PRF1 complex heterozygous mutation and analyzed its etiology.

引用本文:

童芳芳. 穿孔素1复合杂合突变致非免疫性胎儿水肿1 例并文献回顾[J]. 中国当代医药, 2020, 27(16): 190-192转196.
TONG Fang-fang. Non-immune fetal edema caused by perforin 1 complex heterozygous mutation: a case report and literature review. 中国当代医药, 2020, 27(16): 190-192转196.

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http://dangdaiyiyao.com/CN/ 或 http://dangdaiyiyao.com/CN/Y2020/V27/I16/190

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