Primary ciliary dyskinesia: considerations regarding six cases of Kartagener syndrome.
Primary ciliary dyskinesia (PCD), previously known as immotile cilia syndrome, is an autosomal recessive hereditary disease that includes various patterns of ciliary ultrastructural defects. The most serious form is Kartagener syndrome (KS), which accounts for 50% of all cases of PCD. The incidence of PCD ranges from 1:20,000 to 1:60,000. Since PCD causes deficiency or even stasis of the transport of secretions throughout the respiratory tract, it favors the growth of viruses and bacteria. As a result, patients have lifelong chronic and recurrent infections, typically suffering from bronchitis, pneumonia, hemoptysis, sinusitis, and infertility. Bronchiectasis and other chronic conditions infections can be the end result of the irreversible bronchial alterations, leading to chronic cor pulmonale and its consequences. Only half of the patients affected by PDC present all of the symptoms, a condition designated complete KS, compared with incomplete KS, typically defined as cases in which situs inversus does not occur. The diagnosis is made clinically and confirmed through transmission electron microscopy. Since there is no specific therapy for PCD, it is recommended that, upon diagnosis, secondary infections be treated with potent antibiotics and prophylactic interventions be implemented. In this paper, we report six cases of PCD (five cases of complete KS and one case of KS) and review the related literature, focusing on the diagnostic, therapeutic and clinical aspects of this disease.
Ortega
Hugo Alejandro Vega
HA
Universidade de Ribeirão Preto - UNAERP, Ribeirão Preto University - Ribeirão Preto (SP) Brazil. shvega@terra.com.br
Vega
Nelson de Araujo
Nde A
Santos
Bruno Quirino Dos
BQ
Maia
Guilherme Tavares da Silva
GT
D000328:Adult; D001995:Bronchography; D002925:Ciliary Motility Disorders / Q000175:diagnosis / Q000628:therapy; D005260:Female; D006801:Humans; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000628:therapy; D008297:Male; D012857:Situs Inversus / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed