pubmed.ncbi.nlm.nih.gov

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia - PubMed

  • ️Mon Jan 01 2018

Case Reports

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia

Holm Schneider et al. N Engl J Med. 2018.

Free article

Abstract

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.).

PubMed Disclaimer

Comment in

Similar articles

Cited by

Publication types

MeSH terms

Substances