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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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.

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