Familial Mediteranean fever with protein-losing enteropathy due to constrictive pericarditis
World Journal of Pediatrics, cilt.7, sa.4, ss.365-367, 2011 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 7 Sayı: 4
- Basım Tarihi: 2011
- Doi Numarası: 10.1007/s12519-011-0255-y
- Dergi Adı: World Journal of Pediatrics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.365-367
- Anahtar Kelimeler: constrictive pericarditis, familial Mediterranean fever, intestinal lymphangiectasia, protein-losing enteropathy
- Sağlık Bilimleri Üniversitesi Adresli: Hayır
Özet
Background: Constrictive pericarditis (CP) represents a rare cause of protein-losing enteropathy (PLE) resulting from intestinal lymphangiectasia (IL). In this report, we describe an 8-year-old Turkish boy with IL and PLE secondary to CP. Methods: The boy was introduced to our clinic due to bilateral pretibial edema and swelling of the eyelids caused by hypoproteinemia. Physical examination revealed a distended right jugular vein. Laboratory investigation revealed PLE with fecal concentration of alpha-1 antitripsin of 4.87 mg/g. Histopathologic examination of random biopsies obtained from the duodenum revealed markedly dilated lymphatics compatible with IL. Constrictive pericarditis was diagnosed by tagged cine cardiac magnetic resonance imaging. Results: Pericardiectomy was performed for the patient. Genetic analysis was done and heterozygous mutation E148Q was detected as a disease-causing Mediterranean fever (MEFV) mutation. Colchicine was started after the operation. Six months after the initiation of regular colchicine therapy, echocardiography revealed disappearance of CP. Conclusion: This is the first reported case of PLE with a distended right jugular vein due to CP secondary to familial Mediterranean fever associated with E148Q heterozygosity in the MEFV gene. © 2011 Children's Hospital, Zhejiang University School of Medicine and Springer-Verlag Berlin Heidelberg.