臨床小児科: オープンアクセス
オープンアクセス

概要

Profile of Gene Positive Familial Mediterranean Fever in Kurdish Children in Sulaymaniyah City, Iraq

Hayder Fakhir Mohammad

Background: Familial Mediterranean fever (FMF) is a hereditary systemic auto- inflammatory disease affecting people of certain ethnic origins. In Iraq, few studies addressed FMF but none tackled patients’ genotypes. This study was carried out in Sulaymaniyah, Iraq to identify the demographic, clinical, laboratory and genetic characteristics of FMF in Kurdish children. Methodology: Sixty-four gene-positive FMF children were prospectively studied over 9-years starting at Jan 2011. Parameters analysed were age, sex, symptoms’ onset-diagnosis interval (SO-DI), symptoms, family history and parents’ consanguinity. Mediterranean fever (MEFV) gene mutations were analysed via real time PCR. Results: There were 41 (64.1%) males. Age ranged between 23 months to16 years with a mean of 7.8 year. Parents were consanguineous in 32.8% and family history was positive in 46.9%. The average SO-DI was 14.6 months. Common presentations were fever (100%), abdominal pain (80%), diarrhoea and/or constipation (21.9%) and arthritis (26.6%) mainly of the knee (n=11). Neither erysipelas-like erythema nor amyloidosis were observed. The genotype was (46.8%) heterozygous, (17.2%) homozygous, (31.3%) compound heterozygous and (4.7%) complex heterozygous. Simple heterozygotes were diagnosed relatively later than other genotypes. The most frequent MEFV gene mutation alleles were E148Q (n=22), M680I (n=20), V726A (n=17) and M694V (n=13). Parents’ consanguinity was influential in homozygotes only while positive family history was significant in all genotypes except the compound heterozygote. Conclusions: To the best of my knowledge this is the first study of FMF genotypes in children from Iraq and Kurdistan Region which including this number of patients. Although FMF diagnosis is mainly clinical, genetics contribute to diagnosis, prognosis and family counselling.