title: Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever.
abstract: Primary ciliary dyskinesia (PCD) is a rare disease, predominantly inherited as an autosomal recessive, with ciliary dysfunction leading to impaired mucociliary clearance, chronic airway infection and inflammation. Situs inversus totalis occurs in ~50 % of PCD patients and it is known as Kartagener syndome. Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis, or erysipelas-like skin disease. FMF is caused by mutations in the MEFV gene which is located on chromosome 16p13.3. p.M680I, p.M694 V, p.M694I, p.V726A on exon 10 and p.E148Q on exon 2 are the most common mutations among FMF patients and these constitute 85 % of all. Homozygosity of R202Q polymorphism is strongly associated with FMF. We would like to present a case of Kartagener syndrome accompanied by FMF with R202Q polymorphism. Our case is the first in the literature indicating the accidental coexistence of FMF and Kartagener syndrome.
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Adnan Menderes University Faculty of Medicine , Aydin , Turkey.
authors.forename: Deniz
authors.initials: D
authors.lastname: Çetin
authors.forename: Beyza
authors.initials: B
authors.lastname: Genç Çetin
authors.forename: Taşkın
authors.initials: T
authors.lastname: Şentürk
authors.forename: Songül
authors.initials: S
authors.lastname: Şahin Çildağ
authors.forename: İkbal
authors.initials: İ
authors.lastname: Yılmaz Akdam
mesh_terms: D000293:Adolescent; D003598:Cytoskeletal Proteins / Q000235:genetics; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D007619:Kartagener Syndrome / Q000150:complications* / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin
keywords: Familial Mediterranean fever; Kartagener syndrome; Primary ciliary dyskinesia