Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. Issue 2 (March 2015)

• Record Type: Journal Article
• Authors: Çetin, Deniz; Genç Çetin, Beyza; Şentürk, Taşkın; Şahin Çildağ, Songül; Yılmaz Akdam, İkbal
• Is Part Of: Modern rheumatology. Volume 25:Issue 2(2015)
• Page Start: 312
• Page End: 314
• Publication Date: 2015-03
• Subjects: Rheumatology -- Periodicals; 616.723005
• DOI: 10.3109/14397595.2013.874756
• Languages: English
• ISSNs: 1439-7595

Abstract

<abstract> <title>Abstract</title> <p>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. <italic>p.M680I</italic>, <italic>p.M694</italic> <italic>V</italic>, <italic>p.M694I</italic>, <italic>p.V726A</italic> on exon 10 and <italic>p.E148Q</italic> on exon 2 are the most common mutations among FMF patients and these constitute 85 % of all. Homozygosity of <italic>R202Q</italic> polymorphism is strongly associated with FMF. We would like to present a case of Kartagener syndrome accompanied by FMF with <italic>R202Q</italic> polymorphism. Our case is the first in the literature indicating the accidental coexistence of FMF and Kartagener syndrome.</p> </abstract>