What is the diagnosis in a patient who has situs inversus and sinusitis -
Ans. is 'a' i.e., Kartagener's syndrome Kartagener's syndrome is characterized by triad ofSitus inversusChronic sinusitisBronchiectasisIt is a subset of primary ciliary dyskinesia Primary ciliary dyskinesiaPrimary ciliary dyskinesia (PCD, also called the immotile-cilia syndrome) is characterized by congenital impairment of mucociliary clearance (MCC).Clinical manifestations include: -Chronic coughChronic rhinitis andChronic sinusitisOtitis and otosalpingitis (common in childhood)Nasal polyposis and agenesis of the frontal sinuses * The underlying cause is a defect of cilia in the airways, making themUnable to beat (ciliary immotility)Unable to beat normally (ciliary dyskinesia), or to be Missing altogether (ciliary aplasia)It is an inherited disease that has been described from most parts of the world and with equal prevalence in men and women of approximately one in 10,000 to 30,000 individualsBecause the embryonic, nodal cilia are also defective body asymmetry is randomized so that approximately 50 percent of the patients have situs inversus totalis.When situs inversus, chronic sinusitis, and bronchiectasis occur together, an individual is said to have Kartagener's syndrome, a subgroup of primary ciliary dyskinesia that has a prevalence of around one in 20,000 to 40,000 individuals.Bronchiectasis may develop in young persons, but is never present at birth; thus, no individual is born with a fully developed Kartagener's triad.GeneticsThe inheritance pattern is autosomal recessive.Linkage studies have identified a locus on chromosome 5v encoding an axonemal dynein heavy chain protein called DNAHS.Clinical manifestationsThere is considerable variation in the clinical presentation of primary ciliary dyskinesia, although the most common features are recurrent infections of the upper and lower respiratory tract.
Kartagener's syndrome
Goodpastures syndrome
Cystic fibrosis
William Campbell syndrome
Disorders of the Respiratory Tract