primary ciliary dyskinesia


  • disease: 1.primary ciliary dyskinesia

  • screening test: 2.very low or absent nasal nitric oxide

  • protease inhibitor deficiency

  • associated with DNAl1 and DNAH5 gene mutation

  • +/- liver cirrhosis

  • IV infusion of pooled human alpha-1 proteinase inhibitor can be used to elevate AAT levels in blood1

Footnotes

  1. Bronchiectasis Lecture by Jennifer Krall?