From the Departments of Pediatrics (H.S., I.K., S.W., A.D., M.W., W.R.), Obstetrics and Gynecology (F.F., M.W.B.), and Radiology (O.R.), University of Erlangen-Nürnberg, Erlangen, and Radiology Nienburg, Nienburg/Weser (C.T.) - both in Germany; the Department of Biochemistry, University of Lausanne, Epalinges, Switzerland (S.S.-M., C.K.-Q., M.V., P.S.); and Edimer Pharmaceuticals, Andover, MA (N.K.).
N Engl J Med. 2018 Apr 26;378(17):1604-1610. doi: 10.1056/NEJMoa1714322.
Genetic deficiency of ectodysplasin A (EDA) causes X-linked hypohidrotic ectodermal dysplasia (XLHED), in which the development of sweat glands is irreversibly impaired, an condition that can lead to life-threatening hyperthermia. We observed normal development of mouse fetuses with Eda mutations after they had been exposed in utero to a recombinant protein that includes the receptor-binding domain of EDA. We administered this protein intraamniotically to two affected human twins at gestational weeks 26 and 31 and to a single affected human fetus at gestational week 26; the infants, born in week 33 (twins) and week 39 (singleton), were able to sweat normally, and XLHED-related illness had not developed by 14 to 22 months of age. (Funded by Edimer Pharmaceuticals and others.).
遗传性表皮生长因子缺乏（EDA）导致 X 连锁少汗性外胚层发育不良（XLHED），汗腺的发育不可逆受损，这种情况可能导致危及生命的高热。我们观察到，在子宫内暴露于包含 EDA 受体结合域的重组蛋白后，带有 Eda 突变的小鼠胎儿正常发育。我们在妊娠 26 周和 31 周时将这种蛋白经羊膜内给药给两名受影响的人类双胞胎，在妊娠 26 周时给一名受影响的人类胎儿单胎；这些婴儿在 33 周（双胞胎）和 39 周（单胎）出生，能够正常出汗，在 14 至 22 个月大时没有出现 XLHED 相关疾病。（由 Edimer Pharmaceuticals 等资助）。
