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A case of Kartagener's syndrome: Importance of early diagnosis and treatment.
Gupta, Sanjay; Handa, Kumud K; Kasliwal, Ravi R; Bajpai, Pankaj.
Afiliação
  • Gupta S; Department of Internal Medicine, Medanta - The Medicity, Sector 38, Gurgaon, India.
Indian J Hum Genet ; 18(2): 263-7, 2012 May.
Article em En | MEDLINE | ID: mdl-23162311
ABSTRACT
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 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Ano de publicação: 2012 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Ano de publicação: 2012 Tipo de documento: Article