Cytoplasmic "ciliary inclusions" in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia.
Pediatr Pulmonol
; 55(1): 130-135, 2020 01.
Article
em En
| MEDLINE
| ID: mdl-31549486
ABSTRACT
BACKGROUND:
The diagnosis of primary ciliary dyskinesia (PCD) is difficult and requires a combination of clinical features, nasal nitric oxide testing, cilia ultrastructural analysis by electron microscopy (EM), and genetics. A recently described cytoplasmic ultrastructural change termed "ciliary inclusions" was reported to be diagnostic of PCD; however, no supporting evidence of PCD was provided. In this study, we sought to confirm, or refute, the diagnosis of PCD in subjects with "ciliary inclusions" on EM.METHODS:
Six subjects from five families with previous lab reports of "ciliary inclusions" on EMs of ciliated cells were identified and evaluated at a Genetic Disorders of Mucociliary Clearance Consortium site. We performed a detailed clinical history, nasal nitric oxide measurement, genetic testing including whole-exome sequencing (WES), and when possible, repeat ciliary EM study.RESULTS:
Only one of six subjects had multiple and persistent clinical features congruent with PCD. No subject had situs inversus. Only one of six subjects had a very low nasal nitric oxide level. No "ciliary inclusions" were found in three subjects who had a repeat ciliary EM, and ciliary axonemal ultrastructures were normal. Genetic testing, including WES, was negative for PCD-causing genes, and for pathogenic variants in gene pathways that might cause "ciliary inclusions," such as ciliary biogenesis.CONCLUSION:
"Ciliary Inclusions", in isolation, are not sufficient to diagnosis PCD. If seen, additional studies should be done to pursue an accurate diagnosis.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Cílios
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Transtornos da Motilidade Ciliar
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Pediatr Pulmonol
Assunto da revista:
PEDIATRIA
Ano de publicação:
2020
Tipo de documento:
Article