Histopathologic and Genetic Features of Alveolar Capillary Dysplasia with Atypical Late Presentation and Prolonged Survival

J Pediatr. 2019 Jul:210:214-219.e2. doi: 10.1016/j.jpeds.2019.01.047. Epub 2019 Mar 8.

Abstract

Alveolar capillary dysplasia typically presents with neonatal pulmonary hypertension and early mortality. However, there is growing evidence for a subset of disease with atypical late onset and/or prolonged survival. Here, we present the variable clinical, genetic, and pathology findings of 4 such patients.

Keywords: ACD; FOXF1; MPV; case report.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Fatal Outcome
  • Female
  • Forkhead Transcription Factors / genetics
  • Humans
  • Hypertension, Pulmonary / etiology
  • Infant
  • Lung / pathology*
  • Lung Transplantation
  • Male
  • Mutation
  • Persistent Fetal Circulation Syndrome / genetics*
  • Persistent Fetal Circulation Syndrome / pathology*
  • Pulmonary Alveoli / abnormalities*
  • Pulmonary Alveoli / pathology
  • Pulmonary Edema / etiology

Substances

  • FOXF1 protein, human
  • Forkhead Transcription Factors

Supplementary concepts

  • Alveolar capillary dysplasia