ObjectiveTo analyze the clinical manifestations, laboratory examination and gene detection results, therapeutic effects and growth evaluation results of children with congenital pure red cell aplastic anemia, also known as Diamond-Blackfan anemia (DBA), and to provide more clinical ideas for its diagnosis and treatment.
MethodsFrom April 2011 to February 2019, a total of 25 children with DBA in the First Affiliated Hospital of Zhengzhou University were selected as the study objects. According to different treatment methods, they were divided into hormone treatment group (prednisone treatment,n=18) and non hormone treatment group (symptomatic support treatment,n=7). The general clinical data, laboratory examination results, therapeutic effect, growth and development evaluation results were recorded by retrospective research method. Fisher′s exact test was used to compare the remission rate between two groups. Kruskal-Wallis rank test was used to compare the percentiles of height and weight of children with different treatment courses and ages. The procedure followed in this study was in accordance with theWorld Medical Association Declaration of Helsinkirevised in 2013.
Results① The median age of 25 DBA children in this study was 3 months, and the ratio of male to female was 1.08∶1. There were 5 children (20%) with congenital diseases, 4 of them were complicated with 2 or more congenital malformations. ② The results of blood routine examination showed that hemoglobin (Hb) value decreased in all children and reticulocyte count decreased in 64% (16/25) children. Bone marrow cytology showed active proliferation of nucleated cells and hypoplasia of erythrocytes in all children. Among the 12 children with Hb electrophoresis, 2 cases had high fetal Hb(HbF). Among the 13 children with gene detection, 4 cases had DBA related gene mutations, including 3 cases with RPS19 gene mutation and 1 cases with RPl5 gene mutation. ③ The remission rate of hormone treated group and non hormone treated group was 88.9%(16/18) and 42.9%(3/7) respectively, the difference was statistically significant (P=0.032). ④ The results of growth and development evaluation of 20 DBA children showed that there were no significant differences in the percentile of body weight and height among the short-term hormone therapy (hormone therapy duration < 6 months,n=7), long-term hormone therapy (hormone therapy duration ≥ 6 months,n=8) and the non hormone therapy (n=5) in the long-term treatment (χ2=2.456,P=0.293;χ2=0.460,P=0.795). There were no significant differences in the percentiles of body weight and height among younger children (<12 monthes old when receiving treatment,n=8) elder children(≥12 monthes old when receiving treatment,n=5), and the non hormone therapy (n=5) in the log-term treatment (χ2=1.390,P=0.499;χ2=0.624,P=0.732).
ConclusionsThe diagnosis of DBA usually depends on blood routine examination and bone marrow cytology. Mutations in RPS19 and RPL5 gene are relatively common in children with DBA. The detection of related genes is beneficial to the early diagnosis and hormone therapy of DBA. Growth and development of height and weight of children with DBA had no significant relationship with hormone use or not, the course of hormone use, and children ages when receiving hormone treatment.
