Discinesia ciliar primária: considerações sobre seis casos da síndrome de Kartagener

Abstract

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.

Situs invertus totalis in a child with chronic sinusitis

“…Since there is no bronchiogram in our institution, we cannot diagnose bronchiochtasis with certainty, thus kertenigiers syndrome was kept in view. Kartagener syndrome is typified by bronchiectasis, sinusitis, and situs inversus and affects 20% of patients with situs inversus; however, only 50% of patients with Kartagener syndrome have situs inversus [6,7].…”

Management of primary ciliary dyskinesia/Kartagener′s syndrome in infertile male patients and current progress in defining the underlying genetic mechanism

“…In addition, PCD/KS may be complicated by pulmonary heart disease,10 acute mesangial proliferative glomerulonephritis,11 renal cell adenocarcinoma,12 central giant cell granuloma,13 mediastinal tumor,14 amyotrophic lateral sclerosis,15 pulmonary hypertension/pulmonary capillary hemangioma,16 diffuse bronchiolitis,17 rheumatoid arthritis,18 congenital glaucoma/cataracts, nearsightedness, membranous pupil, olfactory defects, serous mucinous otitis,19 hearing loss, conductive deafness, nephrogenic bone defects,20 pulmonary infundibular stenosis, chronic kidney failure,21 reproductive tract abnormalities, testicular seminoma,22 mental retardation, schizophrenia,2324 neonatal respiratory distress252627 and so on. Ciliary dysfunction in the oviduct or endometrium may lead to an increasing risk of ectopic pregnancy or infertility in women 32829. Sperm flagellum is also a type of cilia.…”

“…The main clinical manifestations of the condition include recurrent chronic cough, sputum, nasal congestion, nasal discharge, hemoptysis and other symptoms of respiratory infections 369. The incidence of PCD/KS among the offspring of consanguineous marriages is about 20%–30%; the incidence is especially pronounced in Caucasians.…”

“…Therefore, the syndrome presenting all three symptoms was named complete Kartagener's Syndrome (KS). Another term, incomplete KS, was used to describe cases that did not involve situs inversus 123…”

Transplante pulmonar sem circulação extracorpórea em uma paciente com síndrome de Kartagener

“…When associated with dextrocardia, bronchiectasis, and chronic sinus disease, primary ciliary dyskinesia is designated Kartagener syndrome and is considered a contraindication to lung transplantation in many centers. (2,3) Thirteen years ago, we treated a 26-year-old female patient who had Kartagener syndrome and a history of recurrent pneumonia, together with localized bronchiectasis refractory to clinical treatment. Left middle lobectomy and right lingulectomy were indicated.…”