Farhoodi A, Ahangari Gh, Chavoshzadeh Z, Ramyar A, Movahedi M, Ghareghozlou M, Heydarzadeh M, Fazlolahi M, Bemanian M H, Zandieh F, Mansori M,
Volume 65, Issue 7 (4 2007)
Abstract
Background: Mutations of ELA2, the gene encoding neutrophil elastase (NE) are known to be associated with cyclic neutropenia (CN) and severe congenital neutropenia (SCN). However, high variability of these mutations has been reported. This study was designed to describe the analysis of the ELA2 gene, clinical manifestations and demographic characteristics in patients with CN and SCN.
Methods: A series of 21 patients with CN or SCN were selected, based on SCINR criteria, from the immunology ward of the Pediatric Medicine Center, Tehran, Iran, from March 2004 to August 2005. The ELA2 gene, isolated from blood samples, was analyzed using RT-PCR and automated capillary sequencing. Informed consent was obtained under the tenets of the Helsinki Declaration and the Ethical Committee of the Tehran University of Medical Sciences.
Results: Kostmann's syndrome and CN was diagnosed in three and 18 patients respectively. Of all the patients, one or two mutations were found in 18 cases (85.7%), including all three patients with SCN and 15 of the patients with CN. Exons two and four had the most mutations (eight and seven cases, respectively). Seven patients had double mutations in two distinct exons. Overall, 16 different mutations were found. At the time of presentation, the mean age of patients was 13.4 ±17.6 months, ranging from one month to seven years. Overall, 61.9% of patients had consanguineous parents. The mean absolute neutrophil count was 830.5 ±419.4 (150-2000)/mm3. On average, each patient had been admitted to the hospital 2.2 ±1.6 times. The neutrophil counts of the SCN patients were significantly higher than those of the CN patients. However, there was no significant difference in the neutrophil counts between patients with mutations and those without mutations. All patients with SCN had two or more infectious complications, although the prevalence of infectious or non-infectious complications did not correlate with ELA2 mutations or the neutropenic disorders.
Conclusion: Mutations in ELA2 appear to play an important role in the phatogenetic mechanisms of CN and SCN. Patients with CN had significantly higher neutrophil counts than SCN patients with CN. Although it possible for the gene encoding neutrophil elastase to have more than one mutation in distinct exons, we found no association between the mutations in ELA2 and their complications in CN and SCN patients.
Ramyar A, Kalantari N,
Volume 66, Issue 1 (30 2008)
Abstract
Background: The most common cause for acute onset of thrombocytopenia in an otherwise well child is (autoimmune) idiopathic thrombocytopenic purpura (ITP). The incidence of ITP appears to be greater in children than in adult. The incidence of ITP in children is estimated to be approximately 46 new cases per million population per year. Prednisolone, typically given as a single dose of 1-4 mg/kg/day, is indicated for all patients with symptomatic thrombocytopenic purpura and probably for all patients with platelet counts below 30000-50000/μL who may be at increased risk for hemorrhagic complication. An alternative to corticosteroid therapy for ITP is IVIG, but is much more expensive, has significant side effects, and is not significantly superior to steroid therapy to justify the expense and side effects of its use. In acute ITP, 80% of patients respond initially, with more rapid increase in platelet counts compared to steroid treatment. To the best of our knowledge, this is the first study in Iran comparing the efficacy of prednisolone and IVIG in the treatment of ITP.
Methods: In this retrospective study, 202 ITP patients were treated with either prednisolone or IVIG between 1995 and 2005 at the Childrens' Medical Center, Tehran, Iran. We compared the efficacy of prednisolone and IVIG in increasing the platelet counts of ITP patients. In addition, we collected the following patient data: seasonal incidence, age distribution, gender, parental consanguinity, and platelet count on admission.
Results: There were no meaningful differences between IVIG and prednisolone in the treatment of ITP (z test with p<0.05). ITP was more common in males, with the highest incidence in the age range of 2-8 years old.
Conclusion: Because there was no statistical difference between the outcome of the IVIG and prednisolone treatments, we recommend that prednisolone be the drug of choice to treat ITP.
