中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2013年
3期
178-182
,共5页
陈晓娟%杨文钰%王书春%郭晔%刘芳%戚本泉%常丽贤%周剑峰%安文彬%魏蔚%万扬%竺晓凡
陳曉娟%楊文鈺%王書春%郭曄%劉芳%慼本泉%常麗賢%週劍峰%安文彬%魏蔚%萬颺%竺曉凡
진효연%양문옥%왕서춘%곽엽%류방%척본천%상려현%주검봉%안문빈%위위%만양%축효범
疣%异常丙种球蛋白血症%感染%粒细胞缺乏
疣%異常丙種毬蛋白血癥%感染%粒細胞缺乏
우%이상병충구단백혈증%감염%립세포결핍
Warts%Dysgammaglobulinemia%Infection%Agranulocytosis
目的 探讨WHIM综合征的临床特征,提高对疾病的认识.方法 患儿为男性,11岁,临床诊断为WHIM综合征.通过基因测序的方法检测特异性基因CXCR4突变.结果 患儿生后3岁开始出现反复发热、咳嗽,口服抗生素有效.6岁开始出现双手指尖疣状赘生物,逐渐增多,蔓延至各手指、手掌及手背.血常规检查:白细胞0.65×109/L,中性粒细胞0.15×109/L,血红蛋白116 g/L,血小板200×109/L,网织红细胞(Ret)0.62％.血液生化检查:总蛋白72.2 g/L(参考值60～80 g/L),白蛋白51.8 g/L(参考值35 ～ 55 g/L),球蛋白20.4 g/L(参考值20～35 g/L).IgG5.56 g/L(参考值7.51 ～15.6 g/L),IgA 0.48 g/L(参考值0.82～4.53 g/L),IgM 0.29 g/L(参考值0.46～3.04 g/L).外周血淋巴细胞亚群检测:CD3+T细胞占淋巴细胞的43.6％(参考值64.01％ ～75.95％),CD19+B细胞占淋巴细胞的1.00％(参考值9.02％ ～ 14.1％).骨髓及血涂片可见粒细胞特异形态异常,表现为核分叶过多,分叶核粒细胞各分叶间以细长丝相连,部分细胞质可见空泡.特异性基因CXCR4测序显示存在基因突变.结论 通过典型病史特点、临床表现、实验室检查及基因分析确诊WHIM综合征1例.WHIM综合征是一种罕见的常染色体显性遗传性疾病,是具有疣、低丙种球蛋白血症、反复感染和先天性骨髓粒细胞缺乏四联症的免疫缺陷性疾病.CXCR4为常见的突变基因.疾病呈良性病程,可伴随终生.
目的 探討WHIM綜閤徵的臨床特徵,提高對疾病的認識.方法 患兒為男性,11歲,臨床診斷為WHIM綜閤徵.通過基因測序的方法檢測特異性基因CXCR4突變.結果 患兒生後3歲開始齣現反複髮熱、咳嗽,口服抗生素有效.6歲開始齣現雙手指尖疣狀贅生物,逐漸增多,蔓延至各手指、手掌及手揹.血常規檢查:白細胞0.65×109/L,中性粒細胞0.15×109/L,血紅蛋白116 g/L,血小闆200×109/L,網織紅細胞(Ret)0.62％.血液生化檢查:總蛋白72.2 g/L(參攷值60～80 g/L),白蛋白51.8 g/L(參攷值35 ～ 55 g/L),毬蛋白20.4 g/L(參攷值20～35 g/L).IgG5.56 g/L(參攷值7.51 ～15.6 g/L),IgA 0.48 g/L(參攷值0.82～4.53 g/L),IgM 0.29 g/L(參攷值0.46～3.04 g/L).外週血淋巴細胞亞群檢測:CD3+T細胞佔淋巴細胞的43.6％(參攷值64.01％ ～75.95％),CD19+B細胞佔淋巴細胞的1.00％(參攷值9.02％ ～ 14.1％).骨髓及血塗片可見粒細胞特異形態異常,錶現為覈分葉過多,分葉覈粒細胞各分葉間以細長絲相連,部分細胞質可見空泡.特異性基因CXCR4測序顯示存在基因突變.結論 通過典型病史特點、臨床錶現、實驗室檢查及基因分析確診WHIM綜閤徵1例.WHIM綜閤徵是一種罕見的常染色體顯性遺傳性疾病,是具有疣、低丙種毬蛋白血癥、反複感染和先天性骨髓粒細胞缺乏四聯癥的免疫缺陷性疾病.CXCR4為常見的突變基因.疾病呈良性病程,可伴隨終生.
목적 탐토WHIM종합정적림상특정,제고대질병적인식.방법 환인위남성,11세,림상진단위WHIM종합정.통과기인측서적방법검측특이성기인CXCR4돌변.결과 환인생후3세개시출현반복발열、해수,구복항생소유효.6세개시출현쌍수지첨우상췌생물,축점증다,만연지각수지、수장급수배.혈상규검사:백세포0.65×109/L,중성립세포0.15×109/L,혈홍단백116 g/L,혈소판200×109/L,망직홍세포(Ret)0.62％.혈액생화검사:총단백72.2 g/L(삼고치60～80 g/L),백단백51.8 g/L(삼고치35 ～ 55 g/L),구단백20.4 g/L(삼고치20～35 g/L).IgG5.56 g/L(삼고치7.51 ～15.6 g/L),IgA 0.48 g/L(삼고치0.82～4.53 g/L),IgM 0.29 g/L(삼고치0.46～3.04 g/L).외주혈림파세포아군검측:CD3+T세포점림파세포적43.6％(삼고치64.01％ ～75.95％),CD19+B세포점림파세포적1.00％(삼고치9.02％ ～ 14.1％).골수급혈도편가견립세포특이형태이상,표현위핵분협과다,분협핵립세포각분협간이세장사상련,부분세포질가견공포.특이성기인CXCR4측서현시존재기인돌변.결론 통과전형병사특점、림상표현、실험실검사급기인분석학진WHIM종합정1례.WHIM종합정시일충한견적상염색체현성유전성질병,시구유우、저병충구단백혈증、반복감염화선천성골수립세포결핍사련증적면역결함성질병.CXCR4위상견적돌변기인.질병정량성병정,가반수종생.
Objective To study the clinical and laboratory characteristics of cases with warts,hypogammaglobulinemia,infections and myelokathexis (WHIM) syndrome.Method An 11-year-old boy was diagnosed as WHIM syndrome and CXCR4 gene mutation analysis was performed.Result Since 3 years of age,the patient had recurrent fever and persistent cough.Since 6 years of age,he had warts on his fingers,the warts increased gradually.His complete blood count showed: white blood cell (WBC) 0.65 × 109/L,neutrophil 0.15 × 109/L,hemoglobin 116 g/L,platelet 200 × 109/L,reticulocyte 0.62％.Results of serum biochemical tests: total protein (TP) 72.2 g/L(reference value 60-80 g/L),albumin 20.4 g/L (reference value 20-35 g/L),gammaglobulin 20.4 g/L(reference value 20-35 g/L).IgG 5.56 g/L (reference value 7.51-15.6 g/L),IgA 0.48 g/L (reference value 0.82-4.53 g/L),IgM 0.29 g/L (reference value 0.46-3.04 g/L).Peripheral blood lymphocyte subsets: CD3 + T lymphocyte 43.6％ (reference value 64.01％-75.95％),CD19 + B lymphocyte 1.00％ (reference value 9.02％-14.1％).Bone marrow smears showed that many of the neutrophils had a reactive appearance,with cytoplasmic vacuolation.Most neutrophils had hypersegmentation with four or five nuclear lobules.In some cells,the filaments connecting the nuclear lobes were long.CXCR4 mutation was detected.Conclusion WHIM syndrome is a rare immunodeficiency disorder with an autosomal-dominant pattern of inheritance.The disease is less progressive,and may accompany the patients' whole life.
