| Objective: To explore the relationship between the time course,dose and clinical effect of glucocorticoid therapy in children with DMD,analyze the characteristics of gene mutation in children with DMD,and further explore the significance of glucocorticoid therapy.Methods: From October 2010 to October 2019,98 children diagnosed as DMD in outpatient and inpatient department of children’s Hospital Affiliated to Chongqing Medical University were reviewed and prospectively followed up.The type of gene mutation was recorded and the characteristics of gene mutation were analyzed.We follow up the time course and dose of prednisone,and compare the clinical effect of different time course and dose of prednisone.During the follow-up,we should pay close attention to whether the children have adverse reactions.Results:(1)The data and information of 118 children with DMD were collected.20 of them were negative by MLPA or PCR,which were not further confirmed by gene sequencing or muscle biopsy and did not meet the inclusion criteria.Therefore,98 children were included in the follow-up study.(2)The onset age of 98 children was from 2 months to 9 years old,most of them were from 3 to 7 years old.In 98 cases,1 case of muscle biopsy showed complete deficiency of dystrophin,97 cases of abnormal gene detection,of which 45-54 deletion mutation accounted for the largest proportion(57 cases,58.76%),and there were other types of duplication mutation,micro mutation,etc.there was no significant correlation between different regions of deletion mutation and different types of mutation and the age of onset(P > 0.05).(3)The 98 children were divided into groups according to different treatment duration.It was found that the initial curative effect of glucocorticoid was obvious,and the curative effect gradually decreased with the prolongation of the course of disease and the time period of taking glucocorticoid.(4)They were divided into the initial dose of 1-1.5mg/(kg.d),gradually reduced to 0.75mg/(kg.d)maintenance group and the initial dose of 0.75mg/(kg.d)group according to the different doses of glucocorticoid.We found that it has significant difference in the changes of classification of DMD severity and motor function between the first three groups(P<0.05)and it has no significant difference between the last three groups(P > 0.05).(5)Before taking the medicine,15 of 98 children had a slow growth in height,which was more obvious with the course of the disease and the duration of taking the medicine.In addition,only some children had different degrees of Cushing appearance at the beginning of taking medicine.Osteoporosis,repeated infection,obesity and other adverse reactions were seen in children taking medicine for a long time.The adverse reactions were compared between the two groups of children with different doses of DMD and the difference was not statistically significant(P > 0.05).Conclusions:(1)DMD gene mutation is mainly exon deletion mutation,followed by duplication mutation and point mutation.DMD gene mutation has no effect on the onset age of children.(2)Glucocorticoid has a positive therapeutic effect on DMD.The initial effect of taking glucocorticoid is the most obvious.With the prolongation of the course and the duration of taking glucocorticoid,the effect gradually decreases.Different glucocorticoid doses of the two groups have statistical differences in the initial effect of treatment,but there is no statistical difference with the prolongation of the course and the duration of treatment. |
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