Open AccessSíndrome de Kartagener: diagnóstico neonatal. A propósito de un caso
Author(s) -
Manuel Crespo,
Mercedes Fariñas Salto,
Rocío Chacón Aguilar,
Adriavas Carretero,
Eva Sanavia Morán,
Sarbelio Rodríguez,
Begoña Pérez-Moneo
Publication year - 2019
Publication title -
archivos argentinos de pediatría
Language(s) - Spanish
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2019.e292
Subject(s) - primary ciliary dyskinesia , medicine , situs inversus , bronchiectasis , kartagener syndrome , pediatrics , sinusitis , surgery , lung
Kartagener Syndrome is an inherited autosomal recessive disorder characterized by primary ciliary dyskinesia and the triad of situs inversus viscerum, chronic sinus disease and bronchiectasis. Its prevalence varies from 1/15 000 to 1/30 000 but it is estimated that a lot of patients with primary ciliary dyskinesia have not been diagnosed as such. Its clinical presentation is non-specific and heterogeneous, and there is not a single, gold standard, diagnostic test. The diagnosis is often delayed because of these reasons and limitations and no availability of diagnostic tests. Early diagnosis and treatment change patient's prognosis. In addition, Scientific Societies have published recent diagnostic algorithm to evaluate the patient with suspected primary ciliary dyskinesia. Therefore, it is important to keep up to date with all the latest articles. We present the case of a newborn with this syndrome diagnosed by genetic analysis in a secondary care hospital.