lunes, 30 de abril de 2018

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. - PubMed - NCBI

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. - PubMed - NCBI

 2018 Apr 26;378(17):1604-1610. doi: 10.1056/NEJMoa1714322.

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.

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.).

PMID:
 
29694819
 
DOI:
 
10.1056/NEJMoa1714322

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