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Kartagener's syndrome: review of a case series.

Ciancio N, de Santi MM, Campisi R, Amato L, Di Martino G, Di Maria G - Multidiscip Respir Med (2015)

Bottom Line: The incidence of abnormal cilia was expressed as a percentage.Patient's follow up lasted till 2014, however two patients with more severe clinical behavior died before.This is a review of a case series, yet our data has shown that nasal brushing with ultrastructural pathological differentiation may be useful to identify patients with high risk and to develop more complex clinical presentations.

View Article: PubMed Central - PubMed

Affiliation: Pulmonology Unit, A.O.U. Policlinico-Vittorio Emanuele, Catania, Italy.

ABSTRACT

Background: Kartagener Syndrome (KS) is a rare autosomal recessive genetic disorder, resulting in a group of clinical manifestations, including bronchiectasis, chronic pansinusitis and situs inversus.

Methods: We hereby reviewed eight cases of this rare entity selected from patients attending our outpatients Respiratory Unit since 2006. Samples of respiratory epithelium were obtained with the method of nasal brushing and sent to a specialized center in order to be studied with electron microscopy. At least 50 cross sections of different cilia from different cells were observed in each specimen to study the axonemal structure. Electron micrographs were taken at a magnification of X 50,000 to determine the orientation of the cilia and at a magnification of X 110,000 to study the axonemal pattern. The incidence of abnormal cilia was expressed as a percentage.

Results: We observed different ultrastructural defects in our KS patients, including absence of outer dynein arms, absence of outer and inner dynein arms, and absence of the central pair with transposition of a peripheral doublet into the central position. Patient's follow up lasted till 2014, however two patients with more severe clinical behavior died before.

Conclusions: This is a review of a case series, yet our data has shown that nasal brushing with ultrastructural pathological differentiation may be useful to identify patients with high risk and to develop more complex clinical presentations.

No MeSH data available.


Related in: MedlinePlus

Transmission electron microscopy (EM) of representative nasal epithelium cilia from patient #1 with primary ciliary dyskinesia caused by demonstration of cilia lacking of inner dynein arms and ciliary abnormalities of symmetry presumably related to defects in the radial spokes.
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Fig1: Transmission electron microscopy (EM) of representative nasal epithelium cilia from patient #1 with primary ciliary dyskinesia caused by demonstration of cilia lacking of inner dynein arms and ciliary abnormalities of symmetry presumably related to defects in the radial spokes.

Mentions: This was a 30-year-old non-smoker male, born by non-consanguineous parents. He presented to the outpatient clinic (in May 2006) with chief complaints of recurrent episodes of common cold, sneezing, and cough with expectoration for the past 10 years, exertional shortness of breath for the last 5 years. The patient also revealed that he frequently developed cough, cold, rhinorrhea, nasal blockade, and ear discharge during childhood. At the time of the first visit, the vital parameters were within normal limits. Physical examination revealed grade 2 digital clubbing. On auscultation, bilateral wheeze and right basal crackles were audible. Electrocardiogram showed evidence of dextrocardia. Chest CT scan was done on May 18, 2006, and revealed dextrocardia, and diffuse bronchiectasis. Spirometric evaluation showed moderate obstruction. In the follow up visits the patients showed a progressive impairment of functional respiratory pattern. In 2007 the nasal brushing was performed, with demonstration of 100% cilia lacking of inner dynein arm associated with axonemal disorganization in 60% of the cilia, presumably related to defects in the radial spokes (Figure 1). In 2008 pulmonary function tests showed severe obstruction in spirometry and respiratory failure with low oxygen level in artery blood sample. The patient died in 2010.Figure 1


Kartagener's syndrome: review of a case series.

Ciancio N, de Santi MM, Campisi R, Amato L, Di Martino G, Di Maria G - Multidiscip Respir Med (2015)

Transmission electron microscopy (EM) of representative nasal epithelium cilia from patient #1 with primary ciliary dyskinesia caused by demonstration of cilia lacking of inner dynein arms and ciliary abnormalities of symmetry presumably related to defects in the radial spokes.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4465165&req=5

Fig1: Transmission electron microscopy (EM) of representative nasal epithelium cilia from patient #1 with primary ciliary dyskinesia caused by demonstration of cilia lacking of inner dynein arms and ciliary abnormalities of symmetry presumably related to defects in the radial spokes.
Mentions: This was a 30-year-old non-smoker male, born by non-consanguineous parents. He presented to the outpatient clinic (in May 2006) with chief complaints of recurrent episodes of common cold, sneezing, and cough with expectoration for the past 10 years, exertional shortness of breath for the last 5 years. The patient also revealed that he frequently developed cough, cold, rhinorrhea, nasal blockade, and ear discharge during childhood. At the time of the first visit, the vital parameters were within normal limits. Physical examination revealed grade 2 digital clubbing. On auscultation, bilateral wheeze and right basal crackles were audible. Electrocardiogram showed evidence of dextrocardia. Chest CT scan was done on May 18, 2006, and revealed dextrocardia, and diffuse bronchiectasis. Spirometric evaluation showed moderate obstruction. In the follow up visits the patients showed a progressive impairment of functional respiratory pattern. In 2007 the nasal brushing was performed, with demonstration of 100% cilia lacking of inner dynein arm associated with axonemal disorganization in 60% of the cilia, presumably related to defects in the radial spokes (Figure 1). In 2008 pulmonary function tests showed severe obstruction in spirometry and respiratory failure with low oxygen level in artery blood sample. The patient died in 2010.Figure 1

Bottom Line: The incidence of abnormal cilia was expressed as a percentage.Patient's follow up lasted till 2014, however two patients with more severe clinical behavior died before.This is a review of a case series, yet our data has shown that nasal brushing with ultrastructural pathological differentiation may be useful to identify patients with high risk and to develop more complex clinical presentations.

View Article: PubMed Central - PubMed

Affiliation: Pulmonology Unit, A.O.U. Policlinico-Vittorio Emanuele, Catania, Italy.

ABSTRACT

Background: Kartagener Syndrome (KS) is a rare autosomal recessive genetic disorder, resulting in a group of clinical manifestations, including bronchiectasis, chronic pansinusitis and situs inversus.

Methods: We hereby reviewed eight cases of this rare entity selected from patients attending our outpatients Respiratory Unit since 2006. Samples of respiratory epithelium were obtained with the method of nasal brushing and sent to a specialized center in order to be studied with electron microscopy. At least 50 cross sections of different cilia from different cells were observed in each specimen to study the axonemal structure. Electron micrographs were taken at a magnification of X 50,000 to determine the orientation of the cilia and at a magnification of X 110,000 to study the axonemal pattern. The incidence of abnormal cilia was expressed as a percentage.

Results: We observed different ultrastructural defects in our KS patients, including absence of outer dynein arms, absence of outer and inner dynein arms, and absence of the central pair with transposition of a peripheral doublet into the central position. Patient's follow up lasted till 2014, however two patients with more severe clinical behavior died before.

Conclusions: This is a review of a case series, yet our data has shown that nasal brushing with ultrastructural pathological differentiation may be useful to identify patients with high risk and to develop more complex clinical presentations.

No MeSH data available.


Related in: MedlinePlus