Kartagener syndrome: An uncommon cause of neonatal respiratory distress?

Losa, M.; Ghelfi, Daniela; Hof, E.; Felix, Heidi; Fanconi, Sergio

doi:10.1007/bf01954280

Cited by 25 publications

(9 citation statements)

References 21 publications

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“…PCD is an autosomal recessive disease with extensive genetic heterogeneity. Dyskinetic or completely absent motility of cilia predisposes to recurrent pulmonary and upper respiratory tract infections [Losa et al, 1995]. In our present study, severe lung infection was observed in some of the mutant mice, suggesting that the lung cilia are paralyzed and cannot clear the inhaled particles and pathogens.…”

Section: Discussionmentioning

confidence: 87%

Accelerated mortality from hydrocephalus and pneumonia in mice with a combined deficiency of SPAG6 and SPAG16L reveals a functional interrelationship between the two central apparatus proteins

Zhang

Tang

Zhou

et al. 2007

Cell Motil. Cytoskeleton

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SPAG6 and SPAG16L are proteins localized to the "9+2" axoneme central apparatus. Both are essential for sperm motility and male fertility. These two proteins are also expressed in other tissues containing ciliated cells, such as brain and lung. To study the effects of combined deficiency of these two proteins, a double mutant mouse model was created. The double mutant mice displayed a more profound phenotype of growth retardation and hydrocephalus compared to mice nullizygous for SPAG6 and SPAG16L alone. The double mutant mice died younger, and mortality was significantly higher than in single mutant mice. In addition, the double mutant mice demonstrated pneumonia and its complications, including hemorrhage, edema, and atelectasis, phenotypes not observed in mice nullizygous for mutations in the individual genes. No other cilia-related phenotypic change was detected in double mutant mice including lateralization defects. The ultrastructure of cilia in both the brain and lung of the double mutant mice appeared normal. This model of combined SPAG6 and SPAG16L deficiency provides a new platform to study primary ciliary dyskinesia. The findings also demonstrate that SPAG6 and SPAG16L have related roles in controlling the function of cilia in the brain and lung.

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Section: Discussionmentioning

confidence: 87%

Accelerated mortality from hydrocephalus and pneumonia in mice with a combined deficiency of SPAG6 and SPAG16L reveals a functional interrelationship between the two central apparatus proteins

Zhang

Tang

Zhou

et al. 2007

Cell Motil. Cytoskeleton

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“…In one out of nine patients, intubation for mechanical ventilation for 3 days was necessary. This case was already described in an earlier case report [7]. In all nine patients causes such as hyaline membrane disease, aspiration syndromes, neonatal pneumonia, pneumothorax as well as cardiovascular and metabolic diseases [11] could be excluded.…”

Section: Resultsmentioning

confidence: 83%

“…Furthermore, there are two case reports. Losa et al [7] described the child who was integrated in our study (patient 8) and Oggiano and colleagues [10] presented a term infant with Turner syndrome who had a NRDS, the origin of which was also unclear. In the latter case, no further details on the therapy (i.e.…”

Section: Discussionmentioning

confidence: 99%

Neonatal respiratory distress syndrome – a sign of primary ciliary dyskinesia?

Holzmann¹,

Felix²

2000

Eur J Pediatr

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“…Diagnosis of PCD is difficult in newborns. Nonetheless, PCD should always be suspected in term neonates with respiratory distress or pneumonia and no obvious predisposing risk factors, in neonates with chronic purulent rhinitis, and in those with defects of laterality or complex heart disease [2,3]. It should also be considered in neonates with respiratory problems and diagnosis of oesophageal atresia, biliary atresia, hydrocephalus, polysplenia or a family history of PCD [2].…”

Section: Discussionmentioning

confidence: 99%

An infant with respiratory distress and failure to thrive

Morini

Cozzi

Conforti³

et al. 2002

Eur Respir J

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A 4-month-old male was referred to the Dept of Paediatric Surgery at the authors9 institution, for the investigation of respiratory distress, failure to thrive and complete situs viscerum inversus since birth. A chest radiograph obtained a few hours after birth showed situs viscerum inversus, left apical atelectasis, hyperinflation and hyperlucency of the remaining left lung, and a mild shift of the mediastinum toward the right. The right lung was normal. The infant was born at term, after an uneventful pregnancy, by elective caesarean section. The parents were consanguineous and the baby had a positive maternal family history for situs viscerum inversus and chronic respiratory diseases.On admission, the infant9s general condition was poor, his body weight was 5.490 kg (5th percentile) and he was 62.5 cm in height (10th percentile). Clinical examination disclosed tachypnoea (70 breaths?min -1 ), chest retractions and barrel chest. The arterial oxygen saturation in room air was 90% when the child was awake, reaching 97% with 2 L?min -1 of oxygen. The cardiac frequency was 150 beats?min -1 . On examination of the chest, auscultation revealed diffuse bilateral expiratory wheezing and right posterobasal crackles. The remainder of the examination was compatible with situs viscerum inversus and negative. Cardiac evaluation (electrocardiogram and echocardiogram) was compatible with dextrocardia. Arterial blood gas analysis at room air showed an arterial oxygen tension of 6.8 kPa (51 mmHg) and an arterial carbon dioxide tension of 5.7 kPa (43 mmHg). Red blood cells were found at a level of 5.05610 12 ?L -1 , haemoglobin at 14 g?dL -1 , white blood cells at 12.66 10 9 L -1 (neutrophils 37%, eosinophils 3%, basophils 2%, lymphocytes 51%, and monocytes 7%), and the erythrocyte sedimentation rate at the first hour was 13. C-reactive protein, immune profile, blood chemistry, and sweat test were normal. Microbiological studies for common bacteria, Mycoplasma pneumoniae, Chlamidia trachomatis, respiratory viruses, cytomegalovirus, and Epstein Barr virus, were negative. A chest radiograph was repeated ( fig. 1). Flexible bronchoscopy showed a slightly right-shifted trachea and a normal inverted bronchial tree, without signs of inflammation or mucus plugs. The child also underwent perfusion ( fig. 2) and ventilation lung scintigraphy, with measurement of the ventilation/perfusion ratio (V9/Q9 ratio), and virtual computed tomography (CT) scan ( fig. 3). The V9/Q9 ratio calculated from the lung scan showed a moderate mismatch involving the right upper lung (V9/Q9 ratio: 2.2-2.3), with a normal right lower lobe (V9/Q9 ratio: 0.86-1.08) and left lung (V9/Q9 ratio: 0.85-1.04).

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Kartagener syndrome: An uncommon cause of neonatal respiratory distress?

Cited by 25 publications

References 21 publications

Accelerated mortality from hydrocephalus and pneumonia in mice with a combined deficiency of SPAG6 and SPAG16L reveals a functional interrelationship between the two central apparatus proteins

Accelerated mortality from hydrocephalus and pneumonia in mice with a combined deficiency of SPAG6 and SPAG16L reveals a functional interrelationship between the two central apparatus proteins

Neonatal respiratory distress syndrome – a sign of primary ciliary dyskinesia?

An infant with respiratory distress and failure to thrive

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