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Órgano Oficial del Instituto Nacional de Pediatría

2009, Number 5

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Acta Pediatr Mex 2009; 30 (5)

Primary ciliary dyskinesia as a cause of recurrent infections in children. Report of a case and review of the literature

Hinojos-Gallardo LC, Alejandre-García A, Garrido-Galindo C, Maldonado-Tapia B

Language: Spanish
References: 13
Page: 271-274
PDF size: 231.74 Kb.


ABSTRACT

Primary ciliary dyskinesia (PCD) describes a range of disorders which occur in various diseases associated with congenital defects of the cilia, such as Kartagener syndrome, immobile cilia syndrome and ciliary mobility and orientation defects. This condition causes alterations in the clearance of mucus and leads to recurrent respiratory infections with severe clinical consequences. It is a rare disease of autosomal recesive nature, although autosomal dominant X-linked inheritance have been reported. The heterogeneous clinical presentation leads to a delayed diagnosis. A 13 year-old boy was referred to the Instituto Nacional de Enfermedades Respiratorias (INER) with the diagnosis of recurrent respiratory infections. The patient had a history of recurrent pneumonia and chronic cough. We studied the patient according to the Primer Consenso Nacional para el Estudio del Niño con Neumopatía Crónica (First National Consensus for the Study of the Child with Chronic Pneumopathy) with respiratory functional tests, imaging studies and biopsy of nasal mucosae. The diagnosis confirmed by the tests was primary ciliary diskynesia. The patient had a favorable course with the aid of pediatric respiratory rehabilitation support.


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