Kawasaki disease in Jordanian children

Nineteen children with signs and symptoms suggesting Kawasaki Disease [KD] were admitted to the pediatric ward at Jordan University Hospital in the period from February 1997 to September 2001. To evaluate our experience in diagnosing and managing children with KD, the clinical notes, investigations including ESR, platelets count, ECG, echocardiogram and drugs used for those children were studied. Their ages ranged from 40 days to 12 yrs, and 70% were aged up to 2 years. Male to female ratio was 8 to 1. Seventeen patients fulfilled the diagnostic criteria of KD and two had atypical KD. All received 2 gm/kg IV infusion of gamma globulin over 12 hrs, and 80-100 mg /kg/ day aspirin. One patient, received prednisone, 52% had cardiac involvement, 26% had coronary artery aneurysms and four had pericardial effusion. All except three had complete recovery, two continued to have coronary artery aneurysms and one died [5%]. Early management is important for good prognosis in KD. Further national multi-center studies are recommended to evaluate the incidence and the outcome of KD in Jordan

Familial mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population

Familial Mediterranean Fever [FMF] is an autoinflammatory periodic disorder characterized by febrile and painful attacks due to inflammation involving the serosal membranes. The gene implicated in this disorder, MEFV, has been cloned and mutations in its coding regions have been identified. We aimed at identifying the frequency of MEFV, mutations and carrier frequency in a mixed Arabic population. We identified 29 prob and s from 29 unrelated sibships segregating the disorder and representing the affected individual cohort. We screened 200 anonymous deoxyribonucleic acid [DNA] samples, representing a healthy adult cohort, for the mutations found to be common in the affected individual cohort. We also, screened anonymous DNA samples from 4 Arabic countries, namely, Egypt [231], Syria [225], Iraq [176] and the Kingdom of -Saudi Arabia [107] thus enlarging our healthy adult cohort. The study was carried out between 1999 and 2002 at Jordan University of Science and Technology, Irbid and the University of Jordan, Amman, Jordan. Out of the 58 alleles of the 29 prob and s, only 31 mutations were identified and M694V and V726A are the most common. The mutation E148Q was the most common among the healthy adult cohort, but was not present in affected individuals. The collective mutant allele frequency "q" was 0.101. The expected carrier rate was 18.1% [one in 5.5] while the observed carrier rate was 18.4% [one in 5.4]. E148Q has reduced penetrance and thus, a proportion of the individuals genetically affected with FMF remain asymptomatic. M694I and M680I are more prevalent in the affected individuals cohort, which points to their higher penetrance. The overall carrier rate is one in 5, but the selective heterozygote advantage could not be demonstrated in this study due to the relatively small sample size