11例X-连锁无丙种球蛋白血症临床特点分析

目的 总结X-连锁无丙种球蛋白血症(X-linked agammaglobulinemia,XLA)患儿的临床特点,提高对本病的早期诊断率.方法 回顾性分析2003年12月至2011年11月中国医科大学附属盛京医院住院的11例XLA患儿的临床资料,分析XLA的临床特点.结果 11例XLA患儿首次出现症状年龄最早为0.4岁,最迟为4岁,平均2.4岁;初次诊断年龄3.5～13.0岁,平均7.0岁;63.6％(7/11)的患儿首次诊断年龄＞7岁;母系家族中男性有类似疾病史的患儿仅占18.2％ (2/11);2例因重症感染死亡,1例失访,其余8例均存活.11例(100％)患儿有呼吸道感染史,中耳炎及消化道感染率分别为54.5％ (6/11)和36.4％(4/11).11例患儿血IgA、IgM、IgG较正常值均明显减低;其中9例血IgG均＜2g/L,其余2例血lgG均＜2.4 g/L.外周血CD19均≤1％,T细胞的突出表现为其中9例CD4/CD8比值倒置.11例患儿中8例经基因检测确诊为XLA.结论 XLA患儿发病年龄相对较早,初诊年龄相对较晚;感染主要以呼吸系统为主,中耳炎及消化道感染亦较为常见,未见有关节炎表现;有明确家族史者甚少;早期诊断、静脉注射人丙种球蛋白长期维持治疗可改善预后.     

X连锁无丙种球蛋白血症的临床特点

目的 探讨中国X连锁无丙种球蛋白血症(XLA)的临床表现和实验室检查特点。方法 本组8例,经流式细胞仪检测Bruton′s酪氨酸激酶(BTK)表达和(或)基因分析诊断为XLA,总结其临床表现,并对其免疫功能进行评价。结果 本组8例,均为男性。发病年龄3个月～3岁,诊断为XLA时平均年龄6岁。8例患儿都有反复急性上呼吸道感染和肺炎伴发热,上呼吸道感染主要为鼻咽部感染,仅1例曾患中耳炎。反复多关节炎较多见(3/8),没有关节感染的证据。仅2例母系家族中的男性有类似疾病史。诊断时均表现为营养不良和生长发育延迟。周围淋巴组织发育不良,扁桃体和淋巴结很小或难以查及。实验室检查血清Ig和循环B细胞明显降低。6例CIM/CD8比值明显倒置。结论 本组中国XLA患儿诊断时年龄较大,临床表现以反复呼吸道感染、肺炎为主,多关节炎发生率较高,家族史不明显。大部分患儿存在CD4/CD8比值明显倒置,原因和意义尚不清楚。     

流式细胞技术在诊断X-连锁无丙种球蛋白血症的应用

目的：探讨流式细胞技术在诊断X-连锁无丙种球蛋白血症(XLA)中的应用。方法：采用流式细胞术检测白细胞分化抗原19(CD19),统计循环B细胞数量,从而使XLA的临床诊断更可靠。结果：8例IgG<2 g/L 的男性患儿中5例(62.5%)CD19<1%而确诊为XLA者。结论：应用流式细胞术检测CD19可提高诊断XLA的准确率。     

X-连锁无丙种球蛋白血症3例报告并文献复习

目的分析X-连锁无丙种球蛋白血症(XLA)的临床表现、诊断和治疗特点。方法回顾性分析3例XLA患儿的临床特点、细胞免疫、体液免疫指标及治疗和预后。结果 3例XLA患儿的发病年龄自11个月至6岁,中位诊断年龄为12岁。患儿均表现为多发反复细菌感染;关节炎症累及膝、踝、肘和髋等大关节。实验室检查提示血清免疫球蛋白水平及循环B细胞明显降低。3例患儿均发现存在BTK基因突变,分别为外显子3的移码突变及无义突变,外显子10的移码突变,以及外显子18的错义突变。确诊为XLA后予静脉滴注丙种球蛋白(IVIG)替代治疗;合并关节炎加用非甾体类抗炎药物(NSAIDs),酌情加用小剂量激素,病情得到明显改善。结论 XLA临床表现具有较大的变异性,反复不同部位的细菌感染,扁桃体、淋巴结发育不良及血清免疫球蛋白水平低下是早期诊断XLA的重要环节;XLA合并关节炎使用IVIG和NSAIDs联合治疗,谨慎使用激素或免疫抑制剂。     

中国X连锁无丙种球蛋白血症40例基因型表型相关性分析

目的 通过中国X连锁无丙种球蛋白血症（XLA）患儿临床表现、免疫功能评价、Bruton′s 酪氨酸激酶（BTK）的表达及BTK基因突变分析,分析基因型和表型间可能存在的关系。 方法 选取拟诊为XLA患儿,使用抗BTK单克隆抗体通过流式细胞技术分析单核细胞BTK蛋白表达。采用RT-PCR获得患儿cDNA,使用8对不同引物分2步扩增BTK cDNA,PCR产物测序。突变结果通过对DNA 外显子相应部位扩增、测序证实。并对确诊XLA患儿的母亲及家族中部分亲属进行BTK蛋白表达和BTK基因分析。 结果 ①40/50例原发性低丙种球蛋白血症患儿经BTK基因突变分析确诊为XLA,以错义突变（16例,40.0%）和无义突变（13例,32.5%)为主。②突变类型为错义突变的患儿平均起病年龄为（1.4±1.1）岁,其他突变类型患儿为（1.4±0.7）岁,差异无统计学意义（P=0.45）。错义突变的发生率随年龄的增长呈上升趋势,无义突变的发生率呈下降趋势。③34/40例（85.0%）B细胞<0.1%;4例（10.0%）B细胞在1%~2%,其中错义突变2例,无义突变1例, 剪接突变1例;2例（5.0%）B细胞为2%,均为错义突变。④血清IgG<3 g·L-1患儿BTK基因突变类型以错义突变和无义突变为主。⑤错义突变患儿BTK蛋白表达水平与其他突变类型无显著差异。⑥6/21例（28.6%）2031C/T多态性患儿伴有严重的关节炎,3/19例（15.8％）无多态性患儿有关节炎表现。⑦28/32例（87.5%）XLA患儿母亲为BTK基因杂合型。 结论 错义突变可能与确诊年龄较大有关,且某些位点的错义突变可能与较高的外周血B细胞数量和血清IgG水平及正常的BTK蛋白表达水平有关。BTK基因多态性（2031C/T）可能增加关节炎的风险。     

X-连锁无丙种球蛋白血症患儿临床表型和基因诊断分析

目的分析3例X-连锁无丙种球蛋白血症(X-linked agammaglobulinemia,XLA)的临床表型特点及Bruton’s酪氨酸激酶(BTK)基因变异情况,以提高临床医师对XLA的认识。方法收集本组3例XLA患儿外周静脉血,测定其血清Ig水平和淋巴细胞亚群表达情况,采用RT-PCR和测序的方法分析患儿及母亲BTK基因变异情况,并总结其临床特征。结果在临床特征方面3例均为男性患儿,诊断XLA时的年龄分别为4岁、12岁6个月和2岁2个月,平均诊断年龄6岁3个月。3例患儿临床均表现为反复感染,如患中耳炎、鼻窦炎、反复全身脓疱疹、脓胸、细菌性关节炎、细菌性脑膜炎等,3例诊断时均表现为营养、生长发育较差,周围淋巴组织发育不良,扁桃体和淋巴结很小或难以查及;实验室检查血清Ig和循环B淋巴细胞明显降低;在基因诊断方面3例均发现存在BTK基因突变,例1为外显子9的949位G缺失,例2为外显子17的错义突变,例3为外显子15的错义突变,对例2、例3患儿母亲进行BTK基因分析,发现均为携带者,存在相同的基因突变。结论本组3例中国贵州籍XLA患儿诊断时年龄较大,临床主要表现为不同部位的反复化脓性细菌感染,在临床表现基础上通过BTK基因分析有助于XLA患儿的进一步明确诊断,并且有利于发现携带者和进行遗传咨询。     

不同年龄段儿童Delta变异株感染所致新型冠状病毒感染的临床特征分析

目的 分析不同年龄段儿童Delta变异株感染所致新型冠状病毒感染患儿的临床特征,为儿童新型冠状病毒感染的临床诊疗提供参考。方法 将2021年11月17日—12月17日河南省定点救治医院收治的Delta变异株感染所致的新型冠状病毒感染患儿45例分为3组(<6岁组16例,6～13岁组16例,>13岁组13例),比较3组患儿的临床特征及实验室检查结果。结果 各年龄组均以轻型病例为主,均以咳嗽、咳痰为主要临床表现,发热仅在6～13岁组中出现。<6岁组血清天冬氨酸氨基转移酶、乳酸脱氢酶、肌酸激酶同工酶水平高于其他两组(P<0.05)。6～13岁组血肌酐水平升高患儿比例最高,达50%。仅>13岁组中4例患儿出现血清C反应蛋白增高。在3个年龄组中,6～13岁组外周血CD3⁺CD4⁺淋巴细胞、CD3⁺CD8⁺淋巴细胞及自然杀伤细胞计数均最低。>13岁组入院时SARS-CoV-2 IgG阳性率高于其他两组(P<0.05)。3组患儿胸部CT影像学表现差异无统计学意义(P>...     

激活PI3K-δ综合征合并关节炎1例并文献复习

目的探讨PIK3CD基因突变所致激活PI3K-δ综合征(APDS)合并关节炎的临床特点及诊断和治疗。方法回顾分析1例确诊APDS合并关节炎患儿的临床资料,并复习相关文献。结果患儿,男,4岁10个月,因肝、脾、淋巴结肿大,咳嗽伴发热就诊。既往有反复呼吸道感染病史。IgG0.07 g/L,IgA0.26 g/L,IgM 1.78 g/L。CD19~+B细胞和CD 4~+T细胞数量减少及CD4~+/CD 8~+比例倒置,考虑为原发免疫缺陷病。基因检测示PIK3CD基因c.G3061:p.E1021K点突变,为杂合突变,确诊APDS。住院期间患儿出现双膝关节肿胀,左侧明显,不能行走。给予静脉注射免疫球蛋白及口服萘普生后关节肿痛明显缓解,能独立行走。结论APDS患儿可能会出现关节炎。     

传染性单核细胞增多症和T细胞免疫

为探讨传染性单核细胞增多症(传单)急性期 T细胞免疫功能的变化,对入院诊断为传单和传单综合征的 50例患儿进行分析,年龄 1个月～ 12岁,用流式细胞仪方法测定其血 CD3、 CD4、 CD8的值;同时对照正常儿童的 CD值.结果显示,传单患儿血中的 CD4明显下降( P<0.05), CD8明显上升, CD4/CD8比例明显下降( P均 <0.01).提示在传单患儿中存在 T细胞免疫紊乱, CD4明显下降, CD8明显上升.     

武汉地区住院患儿EB病毒感染状况

目的：分析武汉地区住院患儿EB病毒（EBV）感染的情况及临床特点,为明确诊断、合理治疗提供帮助。方法：采用ELISA法检测住院患儿EBV衣壳抗原(VCA)抗体IgM、IgG,并按年龄将患儿分为＜6个月、6个月～、1岁～、3岁～、7～15岁5个组,对结果进行统计分析。结果：14 840例住院患儿EBV抗体阳性7 899例,感染率为53.23%;VCA IgM阳性率为4.05%(601/14 840);VCA IgG阳性率为49.18%(7 298/14 840)。VCA IgM阳性率以＜6月组最低(0.11%);VCA IgG阳性率以7～15岁组最高(79.83%)。601例VCA IgM阳性的患儿中,以呼吸道感染最多（429例,71.4%）。结论：武汉地区住院患儿EBV感染率较高,EBV感染的相关疾病以呼吸道感染为主;不同年龄组患儿间EBV感染率不同。     

Lymphocyte subsets in children younger than 2 years old: normal values in a population at risk for human immunodeficiency virus infection and diagnostic and prognostic application to infected children.

Data were collected prospectively from 116 children younger than 2 years old who were seen at the Duke Pediatric AIDS Clinical Trials Unit for known human immunodeficiency virus seropositivity. Forty-six (40%) of these children were human immunodeficiency virus-infected and 70 were not infected. Using 3-month blocks, 10th, 50th and 90th percentiles were calculated for the CD4+ and CD8+ cell counts, percentage of lymphocytes positive for CD4 and CD8 and T4:T8 ratios. Results from the infected and uninfected children were compared. By 3 to 6 months of age the infected patients had significantly lower CD4+ counts, percentage CD4+ cells and T4:T8 ratios, whereas the percentage of CD8+ lymphocytes was significantly higher. Absolute CD8+ counts were approximately the same in infected and uninfected children through age 2 years. Most infected children had one or more abnormal lymphocyte subset results (less than the 10th percentile for uninfected patients) by age 2: 83% had an abnormal CD4+ percentage; 78% had an abnormal T4:T8 ratio; and 67% had an abnormal CD4+ count. All 13 children who had an opportunistic infection (at any age) had an abnormal CD4+ percentage before age 2 years, and 12 of 13 had a low absolute CD4+ count or T4:T8 ratio. Among patients who died 10 of 11 had 1 or more low CD4+ count, 9 of 11 had an abnormal CD4+ percentage and 8 of 11 an abnormal T4/T8 ratio.     

北京单中心社区获得性肺炎住院患儿病原学分析

目的 了解住院患儿社区获得性肺炎(CAP)的病原谱及病原流行特点。方法 回顾性收集2012年12月至2013年11月首都医科大学附属北京儿童医院（我院）确诊的CAP患儿,采集性别、年龄、入院前抗病原治疗情况、入院时间、病原学诊断等资料,分析不同年龄、季节病原构成及流行特点。结果 1 853例CAP患儿总体病原检出率为781%,入我院前均有抗生素应用史。细菌检出率270%,前3位依次是肺炎链球菌、流感嗜血杆菌和肺炎克雷伯菌;病毒检出率为225%,以呼吸道合胞病毒（RSV）和腺病毒（ADV）最常见;肺炎支原体检出率为487%;混合感染检出率为230%,以细菌合并病毒感染最多见。②随着年龄增长单一细菌或病毒感染的比例呈明显下降趋势,肺炎支原体感染的比例呈现明显上升趋势,多种病原混合感染或无明确病原感染比例随年龄增长亦有所降低;肺炎链球菌感染多见于3岁以下婴幼儿（759%）;流感嗜血杆菌（750%）和肺炎克雷伯菌感染（684%）多见于婴儿。RSV感染多见于婴儿（762%）,ADV感染多见于3岁以下婴幼儿（822%）。③单一细菌感染春季最多见,冬季次之;单一病毒感染冬季多见;单一肺炎支原体感染秋季最多见,夏季次之;多种病原混合感染以冬春季多见;无明确病原感染在春季最高。肺炎链球菌感染多见于冬春季,流感嗜血杆菌感染多见于春季,肺炎克雷伯菌感染多见于冬春季,RSV感染多见于冬季,ADV感染以冬春季多见。结论 CAP的病原谱构成存在显著的年龄和季节分布特点。细菌、病毒感染多见于婴儿,肺炎支原体感染多见于5岁以上患儿,多种病原混合感染以婴儿最多见。细菌感染冬春季多见,病毒感染冬季多见,肺炎支原体感染多发生于夏秋季;多种病原混合感染多见于冬春季。     

Is there an increased risk of Haemophilus influenzae septicemia in children with sickle cell anemia?

The risk of Haemophilus influenzae septicemia/meningitis to children who have sickle cell anemia (SS) has been determined to be greater than that seen among normal infants. Of ten bacteriologically proven cases, eight episodes of infection were observed among 234 children with sickle cell anemia (645 person-years), who were less than 5 years of age. There was one case per 69 infants with sickle cell anemia who were less than 18 months old and one case per 36 children with sickle cell anemia between 19 and 59 months of age. Unexpectedly, two infections occurred among 224 children (824 person-years), aged 5 to 9 years; both died. Contrary to the rapid clinical course of pneumococcal infections in children with sickle cell anemia H influenzae septicemia was regularly heralded by a greater than 24-hour prodrome of upper respiratory tract infection, low-grade fever, and otitis media. Three (30%) preventable deaths occurred. Antibiotic therapy for the febrile child with sickle cell anemia must be predicated on the known 400-fold increased risk of pneumococcal septicemia in those less than 5 years old and the fourfold risk of H influenzae septicemia in those less than 9 years of age.     

MYCOPLASMA PNEUMONIAE INFECTION A Retrospective Review of 103 Hospitalised Children

Abstract. The clinical aspects of Mycoplasma pneumoniae infection in 103 children under 12 years admitted to hospital over an eight-year period were reviewed retrospectively. Respiratory illnesses occurred in 87 (85 %) cases. The prevalence of lower respiratory tract involement was similar in both pre-school and school children. Cough was the commonest symptom at all ages. Coryzal symptoms and wheeze were common in pre-school children. Most infants had signs of pharyngitis or otitis media. Non-specific symptoms—fever, lethargy, malaise, anorexia and vomiting—were common accompaniments in children older than one year of age. Non-respiratory illnesses in 16 (15%) patients included gastroenteritis, convulsions, non-specific skin rashes and limb pains. The duration of stay in hospital ranged from two to 30 days (median five days) with apparent clinical recovery and resolution of chest X-ray abnormalities within three months in 78 (76 %) patients seen for review.     

肺炎支原体致支气管肺炎和大叶性肺炎患儿的临床及实验室检查特征分析

目的分析和探讨肺炎支原体(MP)所致支气管肺炎和大叶性肺炎患儿的临床及实验室检查特征。方法选取于2006年1月—2010年12月住院的社区获得性MP肺炎患儿,根据肺部影像学检查将患儿分为MP-支气管肺炎组151例和MP-大叶性肺炎组89例,收集临床和实验室检查资料并加以分析。结果 MP-支气管肺炎患儿平均年龄为42.7个月,MP-大叶性肺炎患儿平均年龄为63.6个月,差异有统计学意义(P<0.05)。5岁以下患儿以支气管肺炎为多见,而5岁以上患儿以大叶性肺炎多见。MP-支气管肺炎患儿比MP-大叶性肺炎患儿容易出现喘息症状(13.2%对1.1%),而MP-大叶性肺炎患儿更易出现发热(95.5%对78.1%),且发热持续时间长(4 d对8 d),差异均有统计学意义(P<0.05)。MP-大叶性肺炎患儿伴有胸腔积液的比例高于MP-支气管肺炎患儿(9.0%对1.3%)。MP-大叶性肺炎患儿CD3+及CD8+T淋巴细胞的比例高于MP-支气管肺炎患儿,而CD4/CD8比值、CD3-CD19+及CD19+CD23+B淋巴细胞比例低于MP-支气管肺炎患儿,差异均有统计学意义(P均<0.05)。MP-大叶性肺炎患儿的IgA水平高于MP-支气管肺炎患儿,差异有统计学意义(P<0.05),而IgG和IgM的差异无统计学意义。结论 MP-支气管肺炎和MP-大叶性肺炎患儿具有各自的临床和实验室检查特征。MP感染后因不同年龄患儿机体的免疫状态不同,最终导致的疾病转归也不同。     

Streptococcus pneumoniae sepsis and meningitis during the penicillin prophylaxis era in children with sickle cell disease

The purpose of this study was to determine the age-related risks, disease-specific risks, and characteristics of serious pneumococcal infections in children with sickle cell disease (SCD) while penicillin prophylaxis was standard. The clinical experiences of three pediatric sickle cell programs spanning January 1, 1992, to May 31, 1998, were combined. Data were collected regarding the patients followed up and the characteristics of bacteremia and meningitis cases. Forty-seven pneumococcal infections (44 bacteremia, 3 meningitis) among 40 patients with SCD were observed. Forty infections occurred in children with homozygous hemoglobin S (SS) during 4108 patient-years at a median age of 22 months; 7 occurred in double heterozygous hemoglobin SC (SC) children during 1777 patient-years at a median age of 23 months. Ten infections occurred among 9 SS children 5 years or older. Most children in whom infections developed were reportedly taking prophylactic penicillin and when older than 24 months old had received Pneumovax (Merck & Co., Inc., West Point, PA, U.S.A. The following pneumococcal serotypes were identified in 15 cases studied: 6A, 6B, 9V, 14, 15B, 18B, 18F, 19F, and 23F. Infections resulted in five deaths and two strokes. The observed severe pneumococcal infection rate in SS children younger than 5 years was less than that reported before penicillin prophylaxis, supporting routine penicillin prophylaxis in this specific population. The optimal duration of penicillin prophylaxis in older children with SCD remains unknown. The administration of 7-valent Prevnar (Wyeth Lederle Vaccines, Philadelphia, PA, U.S.A.) to children younger than 24 months old with SCD should be beneficial, based on the serotype data.     

7岁以下儿童急性下呼吸道感染病原学研究

目的 探讨苏州地区7岁以下儿童急性下呼吸道感染的痛原学分布.方法 对2007年10月至2008年3月间苏州大学附属儿童医院呼吸科住院患儿中7岁以下急性下呼吸道感染住院患儿810例,采用无菌负压吸引法采集新鲜痰液,进行细茵培养,直接免疫荧光法检测病毒,酶联免疫吸附试验(ELISA)法检测血清支原体、衣原体抗体.结果 810例患儿中556例病原栓测阳性(68.6%),单纯病毒感染181例(22.3%),单纯细菌感染124例(15.3%),单纯支原体感染72例(8.9%),单纯衣原体感染10例(1.2%),混合感染169例(20.9%).病毒以呼吸道合胞病毒为主(35.8%),细菌则以肺炎链球菌为主(13.8%),其次为流感嗜血杆菌(4.6%).结论 苏州地区7岁以下儿童急性下呼吸道感染最常见痛原是病毒,其次是细菌、支原体、衣原体.支原体感染多见于1岁以上儿童,混合感染则多见于3岁以下儿童.     

Community and nosocomially acquired respiratory syncytial virus infection in a German paediatric hospital from 1988 to 1999

Respiratory syncytial virus (RSV) is the major cause of lower respiratory tract infections in infants. Since epidemiological data from Germany are scarce, a large retrospective hospital based analysis was performed. In the first part of the study, laboratory records were checked for RSV positive specimens from January 1988 to December 1997. A total of 1664 specimens were positive corresponding to 1171 episodes in 1064 patients; 88% were up to 4 years old and 47% up to 3 months old. The percentage of premature newborns from all patients 0-4 years old was 24%. The rate of nosocomial infection was 38%. The core RSV season began in December, lasted until April, and peaked in January and February. In the second part of the study, from April 1, 1997 to March 31, 1999, which encompassed two RSV winter seasons, patients with the ICD-9 coded discharge diagnoses of lower respiratory tract infections, bronchopulmonary dysplasia (BPD) and prematurity were analysed. Of the premature newborns, 25% were tested RSV positive at least once up to the age of 1 year, as were 52% of those with BPD. The rehospitalisation rate due to RSV infection was 22% in patients with BPD, and 8.9% in all premature newborns. Of patients with community acquired RSV infection, 12% required intensive care and 6% had to be ventilated mechanically. The mortality rates in both parts of the study were 0.8% and 0.7%, respectively. CONCLUSION: Respiratory syncytial virus infection in young children is also of major importance in Germany. Although the mortality rate is low, the high incidence and the severity of the disease in the particular risk group of premature infants with chronic lung disease contribute to a very high disease burden.