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A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report.
Artesani, Maria Cristina; Santarsiero, Sara; Sitzia, Emanuela; Lepri, Francesca Romana; Magliozzi, Monia; Majo, Fabio; Ullmann, Nicola; Stracuzzi, Alessandra; Novelli, Antonio; Cristalli, Giovanni; Fiocchi, Alessandro.
Afiliación
  • Artesani MC; Allergy Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Santarsiero S; Otorhinolaryngology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Sitzia E; Otorhinolaryngology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Lepri FR; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Magliozzi M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Majo F; Paediatric Pulmonology and Cystic Fibrosis Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Ullmann N; Paediatric Pulmonology and Cystic Fibrosis Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Stracuzzi A; Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unity, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Cristalli G; Otorhinolaryngology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Fiocchi A; Allergy Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Front Pediatr ; 12: 1345265, 2024.
Article en En | MEDLINE | ID: mdl-38873586
ABSTRACT

Background:

Primary ciliary dyskinesia (PCD) is considered a rare cause of chronic rhinosinusitis with nasal polyposis (CRSwNP), which is reported in 6% of children with PCD. The forms of PCD associated with the variants of the GAS8 gene identified so far seem to be linked to recurrent respiratory infections (sinusitis, otitis, and bronchiectasis) without situs inversus. Case presentation We report a case of an 11-year-old girl with recurrent otitis media, productive cough, and chronic rhinosinusitis with nasal polyposis with homozygosity for a novel nonsense mutation in the GAS8.

Conclusion:

Children with CRSwNP should be treated in a multidisciplinary manner (ENT, pulmonologist, allergist, pathologist, pediatrician, and geneticist) because nasal polyposis often hides etiologies that must be recognized.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Pediatr Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Pediatr Año: 2024 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza