CAJ | 학술논문

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。
목적：탐토법락사련증(TOF)합병 DiGeorge종합정(DGS)환인적림상특정분석。방법회고성분석2008년1월지2014년10월하남성인민의원화정주대학제삼부속의원715례TOF환인여DGS상관적림상특정,장715례환인중명학위유흉선결함적78례분위DGS조,기중남45례,녀33례；년령(9.12±4.35)개월；체질량(7.28±2.34) kg。여637례위비DGS조즉NDGS조,기중남387례,녀250례；년령(8.21±5.61)개월；체질량(8.19±3.47) kg。 DGS조기인사사출10례염색체22q11.2기인결실환인,근거저일결과장DGS조분위기인진단조여림상진단조。기인진단조10례,기중남6례,녀4례；년령(8.12±4.15)개월；체질량(6.28±2.74) kg。림상진단조68례,남39례,녀29례；년령(8.19±4.37)개월；체질량(7.05±2.39) kg。결과 DGS조화NDGS조환인년령、체질량、술전폐혈관발육정황비교차이무통계학의의(P>0．05),DGS조환인술전반복폐염발생솔명현고우NDGS조(P<0.001)。 DGS조합병저개혈증、면부기형적개솔고우NDGS조,단차이무통계학의의(P>0.05),차2조T림파세포면역결함비교차이무통계학의의(P>0．05),단DGS조최종대궤시간화ICU주원시간명현고우NDGS조(P<0.001)。기인진단조합병저개혈증화면부기형적개솔고우림상진단조,단차이무통계학의의(P>0.05),차2조재T림파세포면역결함방면비교차이무통계학의의(P>0.05)。결론DGS림상표현다양,단세포면역결함、저개혈증혹면부기형병불시DGS환인소특유적,고TOF환인약합병유흉선결여혹발육불량응고필본병가능,이유효지도림상간예,최종제고환인장원기적생활질량。
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.