Interleukin-1beta Promoter Polymorphisms in Febrile Seizures and GEFS+ / 대한소아신경학회지

PURPOSE: Studies gave conflicting results as to the association between febrile seizures(FSs) and IL1B promoter polymorphisms. In the present study, to determine whether or not the function-related two single nucleotide base C/T biallelic polymorphisms in the promoter region at positions -31 and -511 of the IL1B gene are associated with susceptibility to FSs, the frequencies of the polymorphisms were investigated in children with FSs and GEFS+, and normal control subjects. METHODS: 72 FSs, 23 GEFS+ and 174 healthy control subjects were selected throughout a collaborative study of Catholic Child Neurology Research Group. IL1B promoter -31 C/T and -511 C/T genotyping was performed by means of PCR-restriction fragment length polymorphism. RESULTS: The distribution of IL1B -31 genotypes and the frequencies of allele in children with FSs and GEFS+, and healthy control subjects were not significantly different. The distributions of IL1B -31 genotypes(CC, CT, TT) are 22.2%, 50%, and 27.8% in children with FSs, 21.7%, 43.5% and 34.8% in children with GEFS+, and 27.6%, 49.3% and 24.1% in healthy control subjects. The distribution of IL1B -511 genotypes and the frequencies of allele in children with FSs and GEFS+, and healthy control subjects were not significantly different. The distributions of IL1B -511 genotypes(CC, CT, TT) are 23.6%, 47.2%, and 29.2% in children with FSs, 26.1%, 39.1% and 34.8% in children with GEFS+, and 27.6%, 49.3% and 24.1% in healthy control subjects. CONCLUSION: Theses data suggest that genomic variations of IL1B promoter might not be one of the susceptibility factors for FSs in the Korean population.

Aplastic Crisis Secondary to Parvovirus B19 Infection

Human parvovirus(HPV) B19 infection causes erythema infectiosum in children, sometimes red cell aplastic crisis with hemolytic anemia and chronic bone marrow failure in immunocompromised hosts. HPV B19 is directly cytotoxic for erythroid progenitor cells and inhibits erythropoiesis. Infrequently, HPV B19 inhibits hematopoiesis of three cell lineages and causes transient pancytopenia in patients with hemolytic disorders. We report three patients with hereditary spherocytosis who developed transient aplastic crisis. A HPV B19 infection was confirmed by IgM anti-B19 parvovirus titers and characteristic findings of bone marrow examination as the causative agent associated with severe pancytopenia. Three patients recovered spontaneously after a short period of supportive care with red cell transfusions and intravenous immunoglobulin.