Kartagener′s syndrome: A case series

Abstract

Kartagener's syndrome is a rare, autosomal recessive genetic ciliary disorder comprising the triad of situs inversus, chronic sinusitis, and bronchiectasis. The basic problem lies in the defective movement of cilia, leading to recurrent chest infections, ear/nose/throat symptoms, and infertility. We hereby report three unusual cases of this rare entity – an infertile male with azoospermia in whom Bochdalek's diaphragmatic hernia coexisted, another case of an infertile female, and a third of an infertile male with oligospermia. The need for a high index of suspicion to make an early diagnosis cannot be overemphasized in such patients so that wherever possible, options for timely treatment of infertility may be offered and unnecessary evaluation of symptoms is avoided.

Caso Clínico: Discinesia Ciliar Primaria (Síndrome de Kartagener)

“…La lateralidad anómala se debe a que durante el desarrollo embrionario las células ciliadas participan en la migración de los órganos. En la discinesia ciliar la disposición de los órganos ocurre como un evento al azar, de aquí que el 50% de los afectados tiene situs normal y el otro porcentaje situs inverso [1][2][3][4][5][6][7][8][9][10][11]. Esta hipótesis ha sido comprobada en estudios realizados en gemelos monocigóticos con discinesia ciliar primaria en los cuales uno de ellos presenta situs inversus y el otro situs normal [6].…”

“…Varias malformaciones y enfermedades congénitas pueden estar asociadas. En la edad adulta puede generar infertilidad masculina por déficit del movimiento flagelar en los espermatozoides (algunas proteínas ciliares también participan en la estructura flagelar) y en la mujer embarazos ectópicos [2][3][4].…”

A case of Kartagener syndrome with rhinolalia clausa

“…Kartagener syndrome is a rare congenital disease, with ciliopathic autosomal recessive genetic disorder, leading to defect of cilia function lining the respiratory tract and fallopian tube [ 1 ]. Sinusitis, bronchiectasis, situs inversus occurring in this condition are due to abnormal ciliary motility.…”

Recurrent Sino: Pulmonary infections in an infertile male

“…It is a rare autosomal recessive disorder clinically characterized by triad of sinusitis, bronchiectasis and situs inversus with or without dextrocardia. [ 1 2 ] The ultrastructural deficits involving the axoneme or central functional element of the cilia impairs the coordinated ciliary motion resulting in mucus retention and recurrent respiratory tract infections (sinusitis, otitis media and pneumonia). [ 1 2 3 ] Other associated findings may include conductive deafness, nasal polyposis, hypoplastic frontal sinuses, male infertility, and less cornmonly congenital cardiac defects.…”