小儿免疫缺陷病的抗生素治疗

一、免疫缺陷病简介正常人具有非特异性免疫和特异性免疫功能以防御各种病原体的入侵，任何影响和损伤这些兔疫功能的因素，或先天性免疫功能缺陷的患儿，都容易发性反复感染，甚至很严重的感染导致死亡。免疫缺陷病从原因来看可分为原发性免疫缺陷病和继发性兔疫缺陷。原发性免疫缺陷病包括体液免疫缺陷病、细胞免疫缺陷病、联合免疫缺陷病、吞噬细胞功能缺陷和补体系统缺陷病。体液免疫缺陷病是由于B淋巴细胞和免疫球蛋白异常所致。包括X-连锁低丙种球蛋白血症（Bruton病）。常见变异型免疫缺陷病、选择性IgA缺乏症，婴儿暂时性低丙种球…     

X连锁无丙种球蛋白血症

X连锁无丙种球蛋白血症是最早发现的人类原发性免疫缺陷病,为X连锁隐性遗传病,其缺陷基因Btk的突变主要影响B细胞的成熟,导致患儿体液免疫功能障碍。临床以反复化脓菌感染为主要表现,除肠道病毒外对其他病毒的感染过程反应正常。实验室检查发现外周血B细胞数量明显降低,缺乏各类免疫球蛋白。目前主要采用丙种球蛋白替代治疗,随着基因技术的不断发展,有望利用基因治疗达到根治目的。     

儿童原发性免疫缺陷病的临床特点

目的了解儿童原发性免疫缺陷病(PID)的临床特点,以助于早期识别和诊断。方法对本院儿科住院诊断为PID的26例病例进行回顾性分析,记录病史、出生史、家族史、临床表现、实验室检查、诊断、治疗和转归等情况。结果PID中选择性IgA缺乏症6例,普通变异性免疫缺陷病、婴儿暂时性低丙种球蛋白血症各5例,T、B细胞联合免疫缺陷病、湿疹血小板减少伴免疫缺陷综合征各4例,慢性肉芽肿病2例。25例临床表现为反复感染,感染部位主要是呼吸道和消化道;确定有条件致病菌感染6例,自身免疫性疾病5例,有家族病史6例。住院期间死亡、放弃治疗各1例,其他病情好转出院。结论对反复感染、条件致病菌感染或伴自身免疫性疾病患儿,结合家族史,应尽早行免疫学检查,以早期识别和诊断PID。     

The characteristics of laboratory analysis for primary immunodeficiency diseases in children

目的 了解儿童原发性免疫缺陷病(PID)患儿的实验室免疫检查特点,为临床早期诊断PID提供依据.方法 对76例PID患儿的免疫学检查包括细胞免疫和体液免疫指标进行回顾性总结及分析.结果 体液免疫检查中,普通变异型免疫缺陷病(CVID)及联合免疫缺陷病的IgG均降低,尤以CVID降低更为明显,且伴IgA及CD19+B细胞明显降低;IgA降低主要见于CVID、选择性IgA缺乏症(IgAD)及共济失调毛细血管扩张症(AT);低丙种球蛋白血症患儿IgG、IgA及CD19+B细胞均降低.细胞免疫功能中CD3+、CD4+T细胞降低主要见于细胞免疫缺陷病、联合免疫缺陷病及DiGeorge综合征(DGS);AT患儿的CD4+/CD8+比例也降低.8例CVID患儿检测T细胞功能亚群及活化指标,其中5例患儿的CD4+/CD8+比例倒置(CD4+/CD8+ ＜ 0.9);与对照组相比,CVID患儿的CD4+HLA-DR+和CD8+CD45RO+T细胞比例明显升高,CD4+CD45RA+T细胞比例明显降低(P均＜ 0.01).结论 儿童原发性免疫缺陷病免疫学改变各异.CVID患者体内T细胞过度活化,可能是CVID患者容易罹患自身免疫性疾病的原因之一.     

儿童MSN基因突变致原发性免疫缺陷病1例并文献复习

目的：报告儿童MSN基因突变致原发性免疫缺陷病的临床特征及免疫表型。方法：总结分析1例MSN基因突变致原发性免疫缺陷病患儿的临床资料、免疫表型及治疗,并复习相关文献。结果：患儿男,8岁,临床表现为生后反复呼吸道和消化道感染,反复皮肤湿疹,频发足癣。中性粒细胞、淋巴细胞、单核细胞均降低,免疫球蛋白IgG、IgA和IgM低下,T、B和NK淋巴细胞计数降低,CD4+/CD8+比例倒置,DNT细胞比例增高,基因检测发现MSN基因外显子5有1个半合子、错义突变位点（c.511C＞T：p.R171W),为自发突变。在PubMed、Web of Science、中国知网、维普数据库和万方数据库中检索儿童Moesin（MSN）基因突变或缺陷,检索时间均从建库至2017年6月30日。共检索到相关文献2篇,均为英文文献,总结包括本文1例在内的6例MSN基因突变患儿的临床和免疫特点;临床均表现为生命早期发生反复感染,累及呼吸道、消化道和皮肤等,对细菌、真菌和病毒均易感,水痘-带状疱疹病毒感染尤为突出,易累及多系统。免疫表型方面,CD8+T细胞过量表达衰老细胞标志物CD57;给予免疫蛋白替代治疗以及预防性抗生素,可有效减少感染发生。结论：MSN基因突变所致免疫缺陷病表现为2岁以内即发生的反复感染,白细胞降低,低丙种球蛋白血症。     

儿童原发性免疫缺陷病的免疫学改变及分析

目的了解儿童原发性免疫缺陷病(PID)患儿的实验室免疫检查特点,为临床早期诊断PID提供依据。方法对76例PID患儿的免疫学检查包括细胞免疫和体液免疫指标进行回顾性总结及分析。结果体液免疫检查中,普通变异型免疫缺陷病(CVID)及联合免疫缺陷病的IgG均降低,尤以CVID降低更为明显,且伴IgA及CD19+B细胞明显降低;IgA降低主要见于CVID、选择性IgA缺乏症(IgAD)及共济失调毛细血管扩张症(AT);低丙种球蛋白血症患儿IgG、IgA及CD19+B细胞均降低。细胞免疫功能中CD3+、CD4+T细胞降低主要见于细胞免疫缺陷病、联合免疫缺陷病及DiGeorge综合征(DGS);AT患儿的CD4+/CD8+比例也降低。8例CVID患儿检测T细胞功能亚群及活化指标,其中5例患儿的CD4+/CD8+比例倒置(CD4+/CD8+<0.9);与对照组相比,CVID患儿的CD4+HLA-DR+和CD8+CD45RO+T细胞比例明显升高,CD4+CD45RA+T细胞比例明显降低(P均<0.01)。结论儿童原发性免疫缺陷病免疫学改变各异。CVID患者体内T细胞过度活化,可能是CVID患者容易罹患自身免疫性疾病的原因之一。     

应重视原发性免疫缺陷病发病和管理

随着免疫学的发展，人类对免疫系统的活性细胞和活性分子，以及对基因突变的认识逐渐深入，从而对原发性免疫缺陷病(primary immunodeficiency，PID)的认识也日益深入。自1952年Bruton发现首例原发性免疫缺陷病(即先天性无丙种球蛋白血症)以来，至1997年世界卫生组织就已列出60种原发性免疫缺陷病，至1999年则已发现了71种原发性免疫功能缺陷和39种伴有其他遗传性疾病的免疫缺陷，     

小儿干扰素产生缺陷

在儿科临床发现患者发生反复或严重感染时,常进行免疫病理学检查,在检查中可发现粒细胞性病变、补体异常、抗体缺乏或T细胞缺陷等。但是,总有相当数量的病例,常规免疫学检查不能证实有明显的免疫缺陷,淋巴细胞和粒细胞的标记和功能显示正常。有人怀疑这类抗感染防御能力的缺陷的原因,系一种免疫系统的功能性异常。正常的免疫效应细胞由于免疫学调节作用的缺陷而表现功能不全。免疫功能细胞通过各种可溶性免疫活性介     

常染色体隐性遗传的无丙种球蛋白血症

在原发性免疫缺陷病中,抗体介导的原发性B细胞缺陷的发生率占50%以上,其中X连锁无丙种球蛋白血症、选择性IgA缺陷、常见变异型免疫不全症等因其相对多见而被熟知.而常染色体隐性遗传的无丙种球蛋白血症也是能导致原发性B细胞缺陷的一类疾病,近10年来才在世界上引起重视并有病例报道.该文介绍了这类疾病的分类、病因、发病机制、诊断、治疗和预后等方面的特点,旨在呼吁儿科界关注此种疾病.     

原发性免疫缺陷病5例临床病理学分析

本文报告5例不同类型的原发性免疫缺陷病,临床上均以反复或重症感染为主要表现,生前因均未考虑免疫缺陷的诊断,虽经多种抗菌素治疗,但终因重症机会性感染而致死,其中例3合并恶性网状细胞增生症。尸检发现本组病例的中枢及周围淋巴组织呈不同程度的发育不良,根据其免疫器官的病变,例1～3属重症联合免疫缺陷病范踌,例4、5属B细胞缺陷病。结合本组病例的临床病理特点,对原发性免疫缺陷病的临床表现、诊断及治疗原则进行了讨论。     

咪唑安定联用吗啡在小儿创伤机械通气时镇静镇痛作用的临床评价

目的评价咪唑安定联用吗啡在小儿创伤机械通气中的镇静镇痛作用。方法1999年3月~2005年5月我院PICU收住创伤患儿共58例,其中咪唑安定镇静组(A组)38例,咪唑安定联用吗啡组(B组)32例。镇静水平的监测采用Ramsay镇静指数评分标准,统计A、B组分别达到理想镇静指数的例数并做显著性检验。比较两组用药期间心率、呼吸、血压、经皮氧饱和度和血气分析值。结果B组达到理想镇静水平的例数多于A组,B组血气pH值、氧分压、二氧化碳分压、心率、经皮氧饱和度均较A组改善,差别均有显著性意义。结论咪唑安定联用吗啡在小儿创伤机械通气中的镇静镇痛作用显著,值得推广。     

Red blood cell transfusion for infants with single-ventricle physiology

The purpose of this study was to assess how red blood cell (RBC) transfusions impact hemodynamic parameters in infants with single-ventricle lesions. This was a retrospective chart review. The setting was a pediatric cardiac intensive care unit at a tertiary care children??s hospital. Fifty-nine patients <1?year of age with single-ventricle physiology who received a blood transfusion between December 2007 and April 2009 were analyzed. They received a total of 183 transfusions. Exclusion criteria included transfusions given within 72?h of cardiac surgery or transfusions given to patients with active bleeding. There were no interventions. The study population was divided into terciles based on pretransfusion hemoglobin (Hgb) concentration. The pretransfusion Hgb concentration in group A was 7.8 to 12.3?gm/dl, in group B was 12.4 to 13.2 gm/dl, and in group C was 13.3 to 15.7?gm/dl. Heart rate, blood pressure, arterial saturation, and cerebral near-infrared spectroscopy (cNIRS) values before transfusion, as well as at 1, 2, 4, 8, and 12?h after transfusion, were collected. There was significant improvement in diastolic blood pressure, arterial saturation, and cNIRS in group A after 12?h. Transfusions given in group B also resulted in improvement in diastolic blood pressure and arterial saturation, with less robust response of cNIRS. In group C, only arterial saturation values increased significantly. RBC transfusions can improve hemodynamics and markers of oxygen delivery in infants with single-ventricle physiology, but further studies are needed to determine an optimal Hgb level in this population. Interventions to increase Hgb above this level may be of limited benefit.     

Intracranial Doppler Flow Velocimetry Compared with Extracranial Carotid Blood Flow Measurements

ABSTRACT. The effects of changes in carotid blood flow on intracranial blood flow velocities were examined in six newborn lambs under general anesthesia. Carotid blood flow was measured using electromagnetic flow cuffs. A combined continuous and pulsed Doppler instrument was used to measure intracranial blood flow velocities on the base of the skull through artificially created fontanels. Baseline carotid blood flow was 96±18 ml.min^-1 (mean ± SD) and increased by 58±13% following contralateral occlusion. A close correlation between changes in carotid blood flow and intracranial blood flow velocity was found ( y = -6.28+3.72 x, Sy =182.3, Sy/x =0.30, r =0.89, p <0.001). The closest estimate of changes in blood flow to the brain was the temporal mean of the cross-sectional average velocity.     

Relative nocturnal hypertension in children with insulin-dependent diabetes mellitus

Twenty-four-hour blood pressure and heart rate measurements were carried out in 14 newly diagnosed diabetics and in 28 diabetics with 5–13 years' duration of the disease; 8 healthy children were used as controls. Mean arterial blood pressure increased at night in 5, decreased slightly (less than 10%) in 5 and decreased markedly (more than 10%) in 18 diabetics with longer duration of the disease. The diurnal-nocturnal differences in heart rates were significantly lower in diabetics with relative "nocturnal hypertension" compared to the control group ( p < 0.05). A significant negative correlation was found between maximal arterial blood pressure during physical exercise and the diurnal-nocturnal differences in mean arterial blood pressure in diabetics ( r =−0.58; p < 0.02). In conclusion, we found elevated nocturnal blood pressure in a subgroup of children with longer duration of diabetes and without increased albumin excretion. However, longitudinal studies of blood pressure profiles are needed to identify the candidates for diabetic vasculopathy among diabetic children.     

Blood zinc in patients with Down's syndrome and its relations with their immune status

Studies performed in the last decade have shown the importance of zinc in human physiology particularly in cell mediated immunity. Blood zinc values were assayed with the atomic absorption method using a Perkin/Elmer 2.380 spectrophotometer in 35 Down's syndrome subjects (DS) (16 boys and 19 girls aged 6 months 20 years) and in normal subjects in good health. The immunological picture was determined as previously described. Zinc values in normal subjects were in the range 92-128 micrograms/dl (mean value 107 +/- 10.46 micrograms/dl). The values are in the normal range. The range of blood zinc values of DS children was 60-138 micrograms/dl (mean value 92.22 +/- 19.76 micrograms/dl). Of the 35 subjects with DS, 16 had values of 60-84 micrograms/dl (mean 74.25 +/- 8.29 micrograms/dl) (table I), which are well below normal. Blood zinc values were not correlated to age and sex. A relationship was found with mortality. Out of 16 patients with low zinc values 10 (68.5%) were particularly susceptible to infections. These data were then related to results concerning the immunological status of a previous study. The only three negative skin tests were observed in subjects with low blood zinc. 62.5% of DS subjects with low blood zinc also had a complete lymphocyte deficit (table I) as compared to 42.1% of DS cases with normal zinc levels. Respectively 56.25% and 36.8% of DS cases with low blood zinc values had an abnormal and normal T helper/T suppressor ratio. Only 3 (8.57% of all cases and 18.75% of low blood zinc values) subjects had an alteration of all the parameter evaluated (including morbility).(ABSTRACT TRUNCATED AT 250 WORDS)     

干血滤纸片法测定血清肌酸激酶实验研究

目的 建立干血滤纸片肌酸磷酸激酶检测方法,分析干血滤纸片法与静脉血清法所测得结果的相关性,界定微最法肌酸磷酸激酶病理性高值的"阈值".方法 收集100份标本,分别应用静脉血清法和干血滤纸片法检测肌酸磷酸激酶活性,运用统计学方法对两种方法检测的结果进行相关性分析.利用受试者工作特征曲线界定干血滤纸片法肌酸磷酸激酶病理性高值的"阈值".结果 将肌酸磷酸激酶>170 IU/L作为分界线,经静脉血清法检测,100份标本中50份为异常高值,50份为正常.经统计学分析,静脉血清法和干血滤纸片法所测定肌酸磷酸激酶结果存在正相关,但两种方法测得的肌酸磷酸激酶值不可直接比较和互换.当病理性肌酸磷酸激酶高值的"阈值"定为150.5 IU/L时,干血滤纸片法敏感度和特异度均为90%;当病理性肌酸磷酸激酶高值的"阈值"定在400 IU/L时,干血滤纸片法检测肌酸磷酸激酶灵敏度为70%,特异度为72%.结论 干血滤纸片法和静脉血清法所测结果存在良好相关性.兼顾实验敏感度和特异度,用于肌酸磷酸激酶筛查时的"阈值"建议定为400 IU/L.     

Metabolic rhythms in adolescents with diabetes.

Metabolic rhythms were studied over 24 hours in eight adolescents with insulin dependent diabetes before and two months after attempting to improve diabetic control with home blood glucose monitoring. A significant improvement in blood glucose concentration was observed, although 24 hour mean concentrations remained grossly abnormal. This improvement was accompanied by significant falls in blood glycerol and total ketone bodies concentrations and a significant rise in blood lactate concentration. Without attention to other factors affecting diabetic control, the introduction of home blood glucose monitoring produces only a small improvement in control.     

Faecal occult blood in children with coeliac disease

It has recently been suggested that in adults with coeliac disease, faecal blood loss may play a role in the development of iron deficiency. A group of 45 children diagnosed with coeliac disease during 1996 and 1997 were therefore prospectively evaluated for the presence of gluten in their diet, iron deficiency anaemia, and faecal occult blood. Sixty children admitted for elective surgery or asthma served as controls. Faecal occult blood was found in four iron deficient children on normal diet, of whom three were newly diagnosed. Occult blood loss disappeared in three of the four children when gluten was removed from their diet. Faecal occult blood was found in 26.7% of children on gluten-containing diet, but not in children on gluten-free diet (P=0.01), or in control children (P=0.001). Conclusion Our data suggest that the incidence of occult blood loss in coeliac disease occurs mainly in newly diagnosed cases and responds to a gluten-free diet. Occult blood testing may not be warranted in the absence of iron deficiency anaemia nor in children with iron deficiency anaemia who are on a gluten-free diet. Received: 23 September 1999 and in revised form: 3 April 2000 and 5 May 2000 / Accepted: 7 May 2000     

Intestinal malrotation with volvulus associated with severe stress hyperglycemia

A 2-year-old boy was admitted with diagnosis of diabetes debut, with blood glucose of 500 mg% on admission, without ketosis or metabolic acidosis. He also presented bilious vomiting and brownish bloody stools. He was operated with a presumptive diagnosis of acute intestinal obstruction. The final diagnosis was volvulus, secondary to congenital malrotation. After surgery, he normalized blood sugar levels. The clinical setting was assumed as hyperglycemia without ketosis, with characteristic of severity caused by stress, secondary to volvulus in malrotation. This association has not yet been described.     

Study of various factors of the pathogenesis of nephrotic edema in children with glomerulonephritis]

As many as 26 children (20 boys and 6 girls) aged 2.5 to 15.5 years suffering from active nephrotic glomerulonephritis were examined for the intravascular liquid volume and antidiuretic hormone in blood plasma. In accordance with the magnitude of the circulating blood volume, 3 groups of patients were distinguished: group I included patients with hypervolemia, group II with hypovolemia, and group III with normovolemia. In the hypovolemic children, the nephrotic syndrome occurred at an earlier age as compared to the normovolemic children who developed it much later. The patients differed in the content of antidiuretic hormone and total blood protein. In the second group children, secretion of antidiuretic hormone was the highest one, whereas the level of total protein was the least one. A relationship was discovered between the pattern of the nephrotic syndrome and the efficacy of diuretic treatment.