Familial nasal acilia
| Familial nasal acilia | |
|---|---|
| Other names | Familial nasal acilia syndrome |
 | |
| This disorder has been described as autosomal recessive | |
| Specialty | Medical genetics |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Medium |
| Frequency | rare |
| Deaths | - |
Familial nasal acilia is a rare congenital defect which is characterized by the complete absence of cilia on the epithelial cells of the respiratory tract. Symptoms are common within one's family and start as soon as one is born, with signs such as respiratory distress, dyspnea, lobar atelectasis, bronchiectasis and neo-natal pneumonia. Other symptoms that occur later in life include chronic moist coughing, chronic sinusitis, chronic otitis media, chronic rhinitis, and recurrence of upper and lower respiratory tract infections.[1][2]
Exact prevalence is unknown, OrphaNet estimates this condition to affect less than 1 out of every million people worldwide.[3] R Soferman et al. described this disorder to be "autosomal recessive".[4][5]
References
[edit]- ^ "Familial nasal acilia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 18 July 2022.
- ^ Peña, Yanin (27 October 2017). "Acilia nasal familiar – FEMEXER" (in Spanish). Retrieved 18 July 2022.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Familial nasal acilia". www.orpha.net. Retrieved 18 July 2022.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ Soferman, R; Ne'man, Z; Livne, M; Avital, A; Spirer, Z (1 July 1996). "Familial nasal acilia syndrome". Archives of Disease in Childhood. 75 (1): 76–77. doi:10.1136/adc.75.1.76. ISSN 0003-9888. PMC 1511659. PMID 8813877.
- ^ Soferman, R; Ne'man, Z; Livne, M; Avital, A; Spirer, Z (1 July 1996). "Familial nasal acilia syndrome". Archives of Disease in Childhood. 75 (1): 76–77. doi:10.1136/adc.75.1.76. ISSN 1468-2044. PMC 1511659. PMID 8813877.
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