RESUMO
Abstract Introduction Phagocytosis of autoantibody-sensitized coated platelets through Fc gamma receptors on phagocytic cells is an important mechanism of thrombocytopenia in primary immune thrombocytopenia (ITP). Objective We aimed to investigate the contribution of the FcγRIIa and FcγRIIIa genes polymorphism to the risk of ITP and their association with disease characteristics in Egyptian children. Methods A case control study was conducted on eighty children with primary ITP and eighty age and sex healthy matched subjects as a control group. The FcγRIIa and FcγRIIIa genes polymorphism was detected using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results We found that the FcγRIIa‐131H and ‐131R allele frequencies were 51.3 % and 48.7%, respectively, in children with ITP, versus 75% and 25%, respectively, in controls (p= 0.002). The compound heterozygous HR genotype was significantly higher in ITP patients (p < 0.05). The FcγRIIIa-158F and ‐158V allele frequencies were 46.3% and 53.7%, respectively, in children with ITP, versus 70% and 30%, respectively, in controls (p= 0.002). The compound heterozygous VF genotype was significantly higher in ITP patients (p < 0.05). The combined HR/FV genotype was 47.5% in ITP patients, versus 10% in controls (p < 0.001). No significant difference was found between children with newly diagnosed ITP and those who developed chronic ITP, regarding the frequency distribution of the FcγRIIa and FcγRIIIa alleles and genotypes (p > 0.05). Conclusion There is a possible association of the FcγRIIa and FcγRIIIa genes polymorphism with the risk for, and genetic susceptibility to ITP in Egyptian children, but large-scale studies are still needed to support our findings.
Assuntos
Humanos , Masculino , Feminino , Criança , Trombocitopenia , Púrpura Trombocitopênica Idiopática , Fagócitos , Polimorfismo Genético , Receptores de IgGRESUMO
Background: Skeletal morbidities are a common initial presentation and outcome in acute lymphoblastic leukemia(ALL). Vitamin D plays a vital role in the physiological regulation of calcium and phosphate transport and bone mineralization. Also high (25(OH)) level and high vitamin d intake at the time of diagnosis and initiation of anticancer treatment were associated with improved outcome. Methods: Twenty five ALL patients admitted to hematology and oncology unit, children hospital Zagazig University in one-year .vitamin D (25 (OH)) level was assessed in all patients at diagnosis. Patients were classified into deficient vitamin D (0-20)ng/ml , insufficient vitamin D (20-30)ng/ml and sufficient vitamin D (30-50)ng/ml. Statistical analysis was done to determine relation between different groups and ALL patients characteristics. Results: Vitamin D deficient in 24% of patients, vitamin D insufficient in 48% of patients, and vitamin D sufficient in 28% of patients. There was high statistical difference between different groups regarding bone pain and sex. Conclusions: A non-sufficient level in childhood all (deficiency and insufficiency) is common in childhood ALL and this is related to bone pain as initial clinical presentation. Vitamin D is related to presentation and prognosis of ALL in children