A case of Kartagener’s syndrome: Importance of early diagnosis and treatment.
Indian J Hum Genet
; 2013 Apr; 19(2): 266-269
Article
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| ID: sea-149440
Kartagener’s syndrome is a very rare congenital malformation comprising of a classic triad of sinusitis, situs inversus and bronchiectasis. Primary ciliary dyskinesia is a genetic disorder with manifestations present from early life and this distinguishes it from acquired mucociliary disorders. Approximately one half of patients with primary ciliary dyskinesia have situs inversus and, thus are having Kartagener syndrome. We present a case of 12 year old boy with sinusitis, situs inversus and bronchiectasis. The correct diagnosis of this rare congenital autosomal recessive disorder in early life is important in the overall prognosis of the syndrome, as many of the complications can be prevented if timely management is instituted, as was done in this in this case.
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Texto completo:
1
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IMSEAR
Assunto principal:
Sinusite
/
Situs Inversus
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Bronquiectasia
/
Humanos
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Masculino
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Criança
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Síndrome de Kartagener
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Transtornos da Motilidade Ciliar
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
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Screening_studies
Idioma:
En
Revista:
Indian j. hum. genet
Ano de publicação:
2013
Tipo de documento:
Article