中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2012年
12期
944-947
,共4页
孙金峤%王来栓%齐春华%应文静%郭晓红%刘丹如%惠晓莹%刘芳%曹云%罗飞宏%王晓川
孫金嶠%王來栓%齊春華%應文靜%郭曉紅%劉丹如%惠曉瑩%劉芳%曹雲%囉飛宏%王曉川
손금교%왕래전%제춘화%응문정%곽효홍%류단여%혜효형%류방%조운%라비굉%왕효천
DiGeorge综合征%胸腺%免疫%荧光原位杂交
DiGeorge綜閤徵%胸腺%免疫%熒光原位雜交
DiGeorge종합정%흉선%면역%형광원위잡교
DiGeorge syndrome%Thymus gland%Immunity%Fluorescence in situ hybridization
目的 探讨3例部分性DiGeorge异常患儿的临床特征和分子诊断方法.方法 分析3例患儿的临床表现和免疫学特征,采用荧光原位杂交(FISH)方法检测染色体22q11.2基因缺失.结果 (1)临床特征:3例患儿均有不同程度的感染病史和先天性心脏病,影像学检查提示胸腺小；2例患儿有明显的低钙血症(分别为1.11 mmol/L和1.22 mmol/L),并伴有惊厥；仅有1例有腭裂,均无明显的面部畸形.(2)免疫学特征:3例患儿均有不同程度的T细胞免疫功能缺陷(T淋巴细胞比例24％ ～43％,绝对值309 ～803个/μl),免疫球蛋白G、A、M水平,B淋巴细胞比例和绝对值均正常.(3)染色体22q11.2基因缺失检测:3例患儿各观察400个细胞,均显示2绿1红的杂交信号,表明存在染色体22q11.2的基因缺失.(4)预后:3例患儿均接受胸腺肽治疗,针对心脏畸形、低钙血症的临床干预,随访4～18个月,均预后良好.结论 部分性DiGeorge异常临床表现多样,对于有先天性心脏病、胸腺小、低钙血症和免疫功能受损的患儿应考虑本病可能.采用FISH方法检测染色体22q11.2基因缺失,可作为准确、快速的诊断手段.胸腺肽治疗结合其他临床干预可能有效改善部分性DiGeorge异常的预后.
目的 探討3例部分性DiGeorge異常患兒的臨床特徵和分子診斷方法.方法 分析3例患兒的臨床錶現和免疫學特徵,採用熒光原位雜交(FISH)方法檢測染色體22q11.2基因缺失.結果 (1)臨床特徵:3例患兒均有不同程度的感染病史和先天性心髒病,影像學檢查提示胸腺小；2例患兒有明顯的低鈣血癥(分彆為1.11 mmol/L和1.22 mmol/L),併伴有驚厥；僅有1例有腭裂,均無明顯的麵部畸形.(2)免疫學特徵:3例患兒均有不同程度的T細胞免疫功能缺陷(T淋巴細胞比例24％ ～43％,絕對值309 ～803箇/μl),免疫毬蛋白G、A、M水平,B淋巴細胞比例和絕對值均正常.(3)染色體22q11.2基因缺失檢測:3例患兒各觀察400箇細胞,均顯示2綠1紅的雜交信號,錶明存在染色體22q11.2的基因缺失.(4)預後:3例患兒均接受胸腺肽治療,針對心髒畸形、低鈣血癥的臨床榦預,隨訪4～18箇月,均預後良好.結論 部分性DiGeorge異常臨床錶現多樣,對于有先天性心髒病、胸腺小、低鈣血癥和免疫功能受損的患兒應攷慮本病可能.採用FISH方法檢測染色體22q11.2基因缺失,可作為準確、快速的診斷手段.胸腺肽治療結閤其他臨床榦預可能有效改善部分性DiGeorge異常的預後.
목적 탐토3례부분성DiGeorge이상환인적림상특정화분자진단방법.방법 분석3례환인적림상표현화면역학특정,채용형광원위잡교(FISH)방법검측염색체22q11.2기인결실.결과 (1)림상특정:3례환인균유불동정도적감염병사화선천성심장병,영상학검사제시흉선소；2례환인유명현적저개혈증(분별위1.11 mmol/L화1.22 mmol/L),병반유량궐；부유1례유악렬,균무명현적면부기형.(2)면역학특정:3례환인균유불동정도적T세포면역공능결함(T림파세포비례24％ ～43％,절대치309 ～803개/μl),면역구단백G、A、M수평,B림파세포비례화절대치균정상.(3)염색체22q11.2기인결실검측:3례환인각관찰400개세포,균현시2록1홍적잡교신호,표명존재염색체22q11.2적기인결실.(4)예후:3례환인균접수흉선태치료,침대심장기형、저개혈증적림상간예,수방4～18개월,균예후량호.결론 부분성DiGeorge이상림상표현다양,대우유선천성심장병、흉선소、저개혈증화면역공능수손적환인응고필본병가능.채용FISH방법검측염색체22q11.2기인결실,가작위준학、쾌속적진단수단.흉선태치료결합기타림상간예가능유효개선부분성DiGeorge이상적예후.
Objective To investigate the clinical features and molecular diagnostic methods of three patients with DiGeorge anomaly.Method The clinical manifestations and immunological features of the three cases with DiGeorge anomaly were analyzed.We detected the chromosome 22q11.2 gene deletion by fluorescence in situ hybridization (FISH).Result (1) Clinical manifestations:All three cases had varying degrees of infection,congenital heart disease and small thymus by imaging; two cases had significant hypocalcemia (1.11 mmol/L and 1.22 mmol/L,respectively),accompanied by convulsions ; only 1 case had cleft palate and all had no significant facial deformity.(2) Immunological characteristics:All three cases had varying degrees of T-cell immune function defects (percentage of T lymphocytes was 24％-43％,absolute count was 309-803/μl),and levels of immunoglobulin G,A,M,and percent of B lymphocytes and absolute count were normal.(3) Detection of the chromosome 22q11.2 gene deletion:400 cells of each case were detected.All cells showed two green and one red hybridization signal,indicating the presence of gene deletions in chromosome 22q11.2.(4) Outcome:All three cases were treated with thymosin,and appropriate clinical intervention for cardiac malformations,hypocalcemia,and were followed-up for 4-18 months,the prognosis was good.Conclusion DiGeorge anomaly showed diverse clinical manifestations.We should consider the disease if patients had congenital heart disease,thymic hypoplasia,hypocalcemia and/or impaired immune function.FISH for detecting chromosome 22q11.2 gene deletion can be used as accurate and rapid diagnostic method.Thymosin treatment and other clinical intervention may help to improve the prognosis of patients with partial DiGeorge anomaly.
