Ciliary inclusion disease: report of a new primary ciliary dyskinesia variant.
Pediatr Dev Pathol
; 17(6): 465-9, 2014.
Article
em En
| MEDLINE
| ID: mdl-25299134
ABSTRACT
Biopsies from 6 children with clinical presentations suggestive of primary ciliary dyskinesia (PCD) displayed respiratory epithelial cells with disorganized accumulations of basal bodies within the cytoplasm and large intracytoplasmic vesicles into which projected numerous microvilli and cilia. Microvilli, but few cilia, were present at the cell surface. Ultrastructural study revealed a variety of nonspecific abnormalities but demonstrated the cilia generally to be morphologically normal, suggesting that the cause of cilia malfunction was not any recognized primary cause or secondary effect. Repeat studies from 2 patients produced similar findings. It is proposed that this entity, termed ciliary inclusion disease, represents a variant form of PCD manifesting as a consequence of improper ciliogenesis caused by inhibited cytoskeleton-regulated migration of basal bodies to the luminal surface of the airway respiratory epithelial cells.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Kartagener
/
Mucosa Respiratória
/
Células Epiteliais
Limite:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Pediatr Dev Pathol
Ano de publicação:
2014
Tipo de documento:
Article