Vildan Ertekin1, M Ayse Selimoğlu, Ibrahim Pirim. 1. Department of Pediatric Gastroenterology, Hepatology and Nutrition, Atatürk University Facutly of Medicine, Erzurum, Turkey. vildanertekin@hotmail.com
Abstract
BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of inflammation of serosal membranes. Amyloidosis is the most severe complication of the disease The aim of this study was to explore the magnitude of the FMF problem and to describe clinical phenotypic and genotypic profile in the childhood population in Eastern Turkey. METHODS: In this study, 52 patients who were diagnosed as FMF between January 2000 and January 2003 in Department of Pediatrics, Ataturk University Hospital, were included. The diagnosis of FMF was based on typical clinical and laboratory features. The 12 FMF mutations were investigated in the patients. RESULTS: Of the 52 patients, 30 (57.7%) were girls, 22 (42.3%) were boys, and the age ranged from 9 months to 15 years (8.5 +/- 3.2 years). A positive family history for FMF was noted in 33 (63.5%) patients. The mean onset age was 6 +/- 3.4 (from 8 months to 14 years). Nineteen children (36.5%) were symptomatic below the age of 5 years. Abdominal pain was observed in 50 (96.2%), fever in 42 (80.8%), arthralgia in 29 (55.8%), arthritis in 18 (34.6%), splenomegaly in 11 (21.2), hepatomegaly in 15 (28.8%), myalgia in 11 (26.2%), erysipelas-like erythema in 10 (19.2%), thoracic pain in four (7.7%), protracted febrile myalgia in three (5.8%), and seizures in two (3.8%). The most frequent mutation was the M694V/M694V. Clinical presentation of the patients was not different in respect with genotypes (P > 0.05). Two patients had chronic renal disease suggestive of amyloidosis. CONCLUSION: It was noted that the FMF patients in this study had a broad spectrum of mutation combination, which might reflect the intercultural interactions of ancient ethnic groups that lived in Anatolia, and these mutations were not significantly different in respect to clinical presentations.
BACKGROUND:Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of inflammation of serosal membranes. Amyloidosis is the most severe complication of the disease The aim of this study was to explore the magnitude of the FMF problem and to describe clinical phenotypic and genotypic profile in the childhood population in Eastern Turkey. METHODS: In this study, 52 patients who were diagnosed as FMF between January 2000 and January 2003 in Department of Pediatrics, Ataturk University Hospital, were included. The diagnosis of FMF was based on typical clinical and laboratory features. The 12 FMF mutations were investigated in the patients. RESULTS: Of the 52 patients, 30 (57.7%) were girls, 22 (42.3%) were boys, and the age ranged from 9 months to 15 years (8.5 +/- 3.2 years). A positive family history for FMF was noted in 33 (63.5%) patients. The mean onset age was 6 +/- 3.4 (from 8 months to 14 years). Nineteen children (36.5%) were symptomatic below the age of 5 years. Abdominal pain was observed in 50 (96.2%), fever in 42 (80.8%), arthralgia in 29 (55.8%), arthritis in 18 (34.6%), splenomegaly in 11 (21.2), hepatomegaly in 15 (28.8%), myalgia in 11 (26.2%), erysipelas-like erythema in 10 (19.2%), thoracic pain in four (7.7%), protracted febrile myalgia in three (5.8%), and seizures in two (3.8%). The most frequent mutation was the M694V/M694V. Clinical presentation of the patients was not different in respect with genotypes (P > 0.05). Two patients had chronic renal disease suggestive of amyloidosis. CONCLUSION: It was noted that the FMFpatients in this study had a broad spectrum of mutation combination, which might reflect the intercultural interactions of ancient ethnic groups that lived in Anatolia, and these mutations were not significantly different in respect to clinical presentations.