Síndrome de Kartagener

Abstract

Kartagener's syndrome is known to be an autosomal recessive pathological alteration classified as a rare disease for having a minimal incidence with a ratio of 1/4000 to 1/40,000 live births. It is characterized by a primary ciliary dyskinesia causing a deficiency in its physiology in the airway, which is the cause of its respiratory symptomatology, presented with cough, sinusitis, and bronchiectasis. In 1933, this disease was discovered as a pathology with an autosomal recessive genetic character. Then, Manes Kartagener explained this syndrome with a clinical trial, which included sinusitis, bronchiectasis, and situs inversus. Camneretal contributed to primary ciliary dyskinesia (PCD) later in 1975. This rare genetic alteration is caused by anomalies around 40 proteins correlated with the arrangement of the cilia. A 17-year-old female patient was diagnosed with Kartagener's syndrome with a history since childhood; she presents different types of respiratory tract infections due to her disease and has maintained a strict diet together with the different treatments suggested so far at the ‘Vicente Corral Moscoso’ General Hospital. She has had medical follow-ups since childhood with a vast clinical history related to Kartagener's syndrome. This case report demonstrates the diagnostic difficulty that predominates in genetic studies, given the lack of equipment, protocols, guidelines, information, and knowledge the health body has about pathologies of congenital origin. It is necessary to pay attention to this type of disease whose diagnosis goes unnoticed before different common diseases in the labor field.