法洛四联症合并DiGeorge综合征的临床特征分析

Clinical diagnosis of tetralogy of Fallot children with concurrent DiGeorge syndrome

目的：探讨法洛四联症（TOF）合并 DiGeorge综合征（DGS）患儿的临床特征分析。方法回顾性分析2008年1月至2014年10月河南省人民医院和郑州大学第三附属医院715例TOF患儿与DGS相关的临床特征,将715例患儿中明确为有胸腺缺陷的78例分为DGS组,其中男45例,女33例；年龄（9.12±4.35）个月；体质量（7.28±2.34） kg。余637例为非DGS组即NDGS组,其中男387例,女250例；年龄（8.21±5.61）个月；体质量（8.19±3.47） kg。 DGS组基因筛查出10例染色体22q11.2基因缺失患儿,根据这一结果将DGS组分为基因诊断组与临床诊断组。基因诊断组10例,其中男6例,女4例；年龄（8.12±4.15）个月；体质量（6.28±2.74） kg。临床诊断组68例,男39例,女29例；年龄（8.19±4.37）个月；体质量（7.05±2.39） kg。结果 DGS组和NDGS组患儿年龄、体质量、术前肺血管发育情况比较差异无统计学意义（P〉0．05）,DGS组患儿术前反复肺炎发生率明显高于NDGS组（P〈0.001）。 DGS组合并低钙血症、面部畸形的概率高于NDGS组,但差异无统计学意义（P〉0.05）,且2组T淋巴细胞免疫缺陷比较差异无统计学意义（P〉0．05）,但DGS组最终带机时间和ICU住院时间明显高于NDGS组（P〈0.001）。基因诊断组合并低钙血症和面部畸形的概率高于临床诊断组,但差异无统计学意义（P〉0.05）,且2组在T淋巴细胞免疫缺陷方面比较差异无统计学意义（P〉0.05）。结论DGS临床表现多样,但细胞免疫缺陷、低钙血症或面部畸形并不是DGS患儿所特有的,故TOF患儿若合并有胸腺缺如或发育不良应考虑本病可能,以有效指导临床干预,最终提高患儿长远期的生活质量。

Objective To explore the clinical diagnosis of tetralogy of Fallot（ TOF） children with concurrent DiGeorge syndrome （ DGS ） . Methods Retrospective analyses were conducted for the clinical characteristics of 715 TOF children with concurrent DGS at Henan Provincial People′s Hospital and the Third Affiliated Hospital of Zheng-zhou University from January of 2008 to October of 2014. Among them,there were 78 definite cases of thymic aplasia （DGS group）,including 45 boys and 33 girls with an age range of（9. 12±4. 35） months and a body mass range of （7. 28±2. 34） kg. And the remainder was designated as non-DGS group（NDGS group）,including 387 boys and 250 girls with an age range of（8. 21±5. 61） months and a body mass range of（8. 19±3. 47） kg. In DGS group,genetic screening uncovered 10 cases of chromosome 22q11. 2 gene deletion. And based upon this result,DGS group was fur-ther divided into genetic and clinical diagnosis subgroups. The genetic diagnosis group had 10 cases,including 6 boys and 4 girls with an age range of（8. 12±4. 15） months and a body mass range of（6. 28±2. 74） kg,the clinical diagnosis group had 68 cases,including 39 boys and 29 girls with an age range of（8. 19±4. 37） months and a body mass range of （7. 05±2. 39） kg. Results No statistical difference existed in age,body mass or preoperative developmental status of pulmonary vasculature between DGS group and NDGS group（P〉0. 05）. And the preoperative incidence of recurrent pneumonia was obviously higher in DGS group than that in NDGS group（P〈0. 001）. The probability of concurrent hy-pocalcemia and facial malformation was higher in DGS group than that in NDGS group. However,there was no statistical difference（P〉0. 05）. And an inter-group comparison of T lymphocyte immunity defect had no statistical difference（P〉0. 05）. The duration of on-machine and intensive care unit stay was markedly longer in DGS group than that in NDGS group（P〈0. 001）. And the probability of concurrent hypocalcemia and facial malformation was higher in genetic diag-nosis subgroup than that in clinical diagnosis subgroup. However,there was no statistical difference（P〉0. 05）. And an inter-group comparison of T lymphocyte immunity defect had no statistical difference （ P〉0. 05 ） . Conclusions With diverse clinical manifestations,DGS patients may have non-specific findings of cellular immunity defect,hypocalcemia or facial malformation. TOF children with concurrent thymic aplasia should raise an alert so that effective interventions may be adopted to boost their long-term quality of life.