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Revista Cubana de Pediatría

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2014, Number 4

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Rev Cubana Pediatr 2014; 86 (4)

Primary ciliary dyskinesia

Portuondo LR, Brito PCA, Abreu SG
Full text How to cite this article

Language: Spanish
References: 10
Page: 514-520
PDF size: 135.97 Kb.


Key words:

Kartagener syndrome, primary ciliary dyskinesia, ciliopathies.

ABSTRACT

A seven-year old patient with Kartagener syndrome and clinical manifestations at birth that characterize the primary effects of ciliary motility such as neonatal respiratory distress, rhinosinusitis, otitis and chronic bronchitis, atelectasis and recurrent pneumonia. It was underlined that this disease has autosomal recessive inheritance, the possible occurrence of symptoms or malformations in other apparatuses or systems, in the child or his/her relatives. Since the early diagnosis has a significant impact on the quality of life of the individual and this is a difficult-todiagnose disease, emphasis was made on the need of clinically suspecting the existence of primary ciliary dyskinesia if there are characteristics manifestations of the disease, mainly in children with situs inversus.


REFERENCES

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  3. Milara J, Armengot M, Mata M, Morcillo EJ, Cortijo J. Role of adenylate kinase type 7 expression on cilia motility: possible link in Primary Ciliary Dyskinesia. Am J Rhinol Allergy. 2010;24:181-5.

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  6. Barbato A, Frischer T, Kuehni CE, Snijders D, Azevedo I, Baktai G, et al. Primary Ciliary Dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J. 2009;34:1264-76.

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Rev Cubana Pediatr. 2014;86