先天性肾上腺皮质增生症的临床特点

目的 总结先天性肾上腺皮质增生症(CAH)患儿的临床症状、检查结果及治疗方法,探讨CAH的早期诊断和氧化可的松的治疗效果.方法 同顾性分析2006年2月-2010年8月诊断为CAH的14例住院患儿,总结其主要临床表现、实验室检查结果和影像学特点,比较患儿身高、体质量、头围等生长发育指标,探讨其皮质醇分泌节律及皮质醇水平与血清电解质的相关性,并评价氢化可的松对CAH患儿电解质紊乱的治疗效果.采用SPSS 13.0软件进行统计学分析.结果 14例CAH患儿主要临床表现为脱水、拒食、呕吐、腹泻、营养不良和体质量下降,12例出现外生殖器发育异常,10例伴色素沉着.患儿在出生第1年逐渐出现生长发育不良,体质量、头围增加明显落后于身高.在CAH的常见亚型——21 -羟化酶缺乏症失盐型患儿中,16:00血清皮质醇水平与血清钠离子水平呈负相关(r=-0.83,p＜0.05),与血清钙离子水平呈正相关(r=0.93,P＜0.05).静脉滴注氢化可的松可改善患儿的低钠血症(t=2.98,P＜0.05)、高钾血症(t=6.23,P＜0.01)及失盐型患儿的低氯血症(t=2.60,P＜0.05).结论 CAH患儿的临床表现不典型,容易误诊.患儿的体质量、头围是反映其生长发育滞后的重要指标.失盐型患儿的皮质醇水平与血清电解质水平相关.氢化可的松是治疗CAH的有效药物.     

Clinical Diagnostic Approach to Congenital Acyanotic Congenital Heart Disease in Infants and Children

Congenital heart diseases have varied presentations depending on the age of presentation. Regression of neonatal pulmonary hypertension and the timing of establishment of left to right shunt determines the onset of symptoms. Pre-tricuspid shunts generally remain asymptomatic during the childhood while large post-tricuspid shunts present with heart failure in late neonatal or early infancy period. Admixture lesions have pathophysiology similar to large post tricuspid shunts with additional small right to left shunt causing mild systemic desaturation. Murmurs are prominent in valvular heart diseases. Careful clinical assessment of features of high pulmonary blood flow, presence of absence of systemic desaturation, status of second heart sound and murmur would help to arrive at a reasonable bedside diagnosis.     

Lung Mechanics in Normal Infants and Infants with Congenital Heart Disease

The results of a study of pulmonary mechanics in 24 normal infants and 28 infants with congenital heart disease aged 1 to 32 weeks are presented. The two groups were matched for length and weight. The diagnosis of the infants with congenital heart disease varied from simple stenoses to complex septal defects and transpositions. 6 infants were studied before and after operation designed to improve their haemodynamic situation.     

早产儿和足月儿脑性瘫痪的临床特征

目的探讨早产儿和足月儿脑性瘫痪(CP)的临床特征,确定脑损伤的病因与时间,为病因预防提供依据。方法回顾性分析2005年9月-2007年8月在安徽医科大学第一附属医院小儿神经康复中心住院的267例CP患儿的围生期脑损伤高危因素、临床特点、头颅CT和MRI表现。早产儿组102例。28周≤胎龄<37周;出生体质量1000～4000g,平均2228.82g。足月儿组165例。37周≤胎龄<42周;出生体质量2100～4600g,平均3250.18g。计量资料采用频数分布及中位数,计数资料采用频数分布、百分构成比及χ2检验进行描述与分析。结果早产儿组痉挛型双瘫高于足月儿组(χ2=7.93P<0.01),足月儿组偏瘫型(χ2=8.17P<0.01)和共济失调型(χ2=4.21P<0.05)高于早产儿组。高危因素主要顺位依次为窒息、低出生体质量、黄疸、颅内出血和双胎。早产儿组并2种以上高危因素,病理性黄疸,双胎,低出生体质量的情况较多;而足月儿组并窒息、颅内出血较多。早产儿组癫高于足月儿组(χ2=10.37P<0.01)。除癫癎外,早产儿和足月儿并发症的差异均无显著性意义(Pa>0.05)。头颅影像学方面早产儿组CP集中表现为脑室周围白质软化,足月儿CP影像学异常分布范围较广。结论早产儿和足月儿在CP类型构成、高危因素、并发症和头颅影像学方面均有差异。对早产儿早期随访、早期干预,有利于CP的早期诊断和治疗。     

新生儿先天性巨细胞病毒感染的临床研究

目的探讨新生儿先天性巨细胞病毒（CMV）感染的临床特征以及更昔洛韦治疗的临床疗效及其对预后的影响。方法先天性CMV感染新生儿73例分为试验组（n=32）、对照组（n=41）。二组患儿均给予茵栀黄退黄、蓝光照射、丙种球蛋白等对症支持治疗。试验组加用更昔洛韦[7.5mg/（kg.次）]治疗;对照组未使用更昔洛韦。观察更昔洛韦的临床疗效,并比较二组转归情况。结果1.临床特征：73例患儿均有症状性感染,以全身性感染为主（80.8%）;消化系统受累最常见（95.89%）,病理性黄疸是其主要首发症状和主要临床表现（95.89%）;病程中可并其他病原微生物感染,以机会菌败血症最常见（14.1%）;出生缺陷发生率为6.4%。2.临床疗效：试验组治疗后临床表现、辅助检查、病原学检查阴转率与对照组比较均有显著性差异（Pa〈0.001,0.005）。3.转归：试验组痊愈26例（81.3%）,显效6例（18.7%）;对照组进步14例（34.1%）,未愈27例（65.9%）,二组临床疗效比较有显著性差异（P〈0.005）。结论新生儿先天性CMV感染主要表现为有症状性全身性感染,及时予更昔洛韦正规治疗,能明显改善预后。     

婴儿毛细支气管炎鼻病毒感染的临床特征

目的 了解婴儿毛细支气管炎的病原分布,鼻病毒(RV)感染状况及RV感染所致婴儿毛细支气管炎的临床特征.方法 选择毛细支气管炎患儿187例.采用半巢式PCR法检测患儿鼻咽分泌物RV RNA;采用免疫荧光方法测定流感病毒A、流感病毒B、呼吸道合胞病毒(RSV)、腺病毒,及副流感病毒1、2、3型感染情况.结果 187例毛细支气管炎患儿中,RV感染占31.55%,RSV感染占22.46%.RV感染患儿与RSV感染患儿性别、月龄、起病天数和Lowell评分比较差异均无统计学意义(Pa>0.05),缓解天数比较差异有统计学意义(P=0.050),RV感染患儿较RSV感染患儿临床症状缓解快.结论 RV是引起婴儿毛细支气管炎的最常见病原体,RV感染患儿较RSV感染患儿缓解迅速.半巢式PCR方法检测患儿鼻咽分泌物鼻病毒RNA具有很高的敏感性、特异性.     

Valve Repair in Children with Congenital Mitral Lesions: Late Clinical Results

Mitral valve repair may be performed without ring support with advantages related to results and complications. The objective of this study was to analyze the long-term clinical results following surgical repair and reconstruction without the use of rings in cases of congenital mitral lesions in children less than 12 years of age. Twenty-one patients who had undergone surgery during the period from 1975 to 1998 were evaluated. The mean age was 4.6 +/- 3.4 years. Females represented 47.6% of the total. Mitral regurgitation was present in 57.1% (12 patients), stenosis in 28.6% (6 patients), and the mixed lesion group represented 14.3% (3 patients). Perfusion time was 43.1 +/- 9.5 minutes and ischemic time 29.4 +/- 10.5 minutes. Follow-up time was 41.5 +/- 53.6 months for the regurgitation group, 46.3 +/- 32.0 months for the stenosis group, and 39.41 +/- 37.51 months for the mixed lesion group. Echocardiographical follow-up time was 37.17 +/- 39.51 months for the regurgitation group, 42.61 +/- 30.59 months for the stenosis group, and 39.41 +/- 37.51 months for the mixed lesion group. Operative mortality was 9.5% (two cases). There were no late deaths. In the regurgitation group, 10 patients (83.3%) were asymptomatic (p = 0.004). In the echocardiographical follow-up, most of the patients had minimal regurgitation. In the clinical follow-up of the stenosis group all patients were in functional class I (NYHA). The mean transvalvular gradient measured by echocardiography was from 8 to 12 mmHg with a mean gradient of 10.7 mmHg. In the mixed lesion group there was one reoperation at postoperative month 43. There were no cases of endocarditis or thromboembolism. Mitral valve repair in congenital lesions is associated with good late results. The majority of cases in the regurgitation group remain asymptomatic and do not require reoperation. Rings or annular support are not necessary in such cases. Satisfactory repair is more difficult to achieve in cases of mitral stenosis due to valvular abnormalities and the seriousness of the associated lesions.     

Reversal of Pulmonary Hypertension Associated with Plexiform Lesions in Congenital Heart Disease: A Case Report

We describe a 2-year-old child with severe pulmonary hypertension due to a patent ductus arteriosus (PDA) with plexiform lesions on lung biopsy. Despite high basal pulmonary vascular resistance with minimal responsiveness to inhaled nitric oxide and other vasodilators, and advanced plexogenic arteriopathy on lung biopsy, her pulmonary hypertension completely resolved after PDA ligation and during 8 years of follow-up.     

先天性胆道闭锁与巨细胞病毒感染的临床研究

为了探讨先天性胆道闭锁（ＣＢＡ）的原因，分析肝脏病理变化、临床预后与巨细胞病毒（ＣＭＶ）感染的关系。取１４例ＣＢＡ患儿术中肝脏及肝门淋巴结标本，一份进行多聚酶链反应巨细胞病毒基因（ＰＣＲ－ＣＭＶ－ＤＮＡ）检测，另一份肝脏标本做ＨＥ染色光镜检查。结果：１４例中ＣＭＶ阳性占８例。肝脏病理检查表明随手术时日龄增加，胆管增生明显。比较ＣＭＶ阳性组与ＣＭＶ阴性组肝细胞病变、淤胆无差异，肝纤维化ＣＭＶ阴性组重于阳性组；肝细胞坏死ＣＭＶ阳性组重于阴性组。随访８～２０个月，生存６例，其中ＣＭＶ阳性５例，死亡８例。ＣＭＶ感染可能是ＣＢＡ的病因之一，肝纤维化程度、术后胆管炎发生的频率和程度与预后关系密切。从临床归转看ＣＭＶ感染阳性组预后较好。     

婴幼儿先天性心脏病并心内膜弹力纤维增生症的临床特点

目的研究婴幼儿先天性心脏病(CHD)并心内膜弹力纤维增生症(EFE)的临床及实验室特点,诊断和治疗。方法对本院收治婴幼儿CHD并EFE患儿的临床及实验室检查资料进行回顾性分析、总结。结果3166例CHD中21例(0.66%)并EFE,其中动脉导管未闭(PDA)5例,房间隔缺损(ASD)6例,室间隔缺损(VSD)6例,PDA VSD 1例,ASD VSD 2例.法洛四联症1例。临床有不同程度心力衰竭,多伴肺炎,心脏增大较明显,起病绝大多数较急,病情多较重.预后较差。结论CHD是引起EFE的原因之一,但不除外其他原因尤其是病毒感染导致EFF;疾病预后可能与心脏扩大程度、心力衰竭程度、并发症严重程度及治疗及时与否有关。     

Monomeric Calcitonin Secretion in Infants with Congenital Hypothyroidism

ABSTRACT. We have determined CT levels in whole serum (iCT) and by an extraction method (exCT) in 25 infants affected by congenital hypothyroidism (CH)–11 athyreotic and 14 dysgenetic–at age 25 days, before the institution of therapy, and at age 2 years. In hypothyroid patients at age 25 days the iCT and exCT levels were similar to those found in controls of the same age. At age 2 years the iCT and exCT levels decreased in both groups of patients. However, whereas the levels of iCTin hypothyroids were similar to those found in controls of the same age, the levels of exCT were significantly lower in hypothyroids than in controls; moreover they were significantly lower in athyreotic than in dysgenetic patients. At this age, after calcium infusion, exCT levels significantly increased in dysgenetic but not in athyreotic patients. We hypothesize that CT deficiency in CH is due to increased degradation of human CT by the substitutive therapy, which, stimulating proteolytic enzymes, destroys the biologic activity of CT. An extraction procedure improves the sensitivity and specificity of the CT assay and it must be used when CT deficiency is suspected. In addition we suggest that the measurement of exCT levels after Ca infusion might be useful to distinguish dysgenetic from athyreotic patients.     

婴幼儿巨细胞病毒感染的临床特点及转归

目的研究巨细胞病毒(CMV)感染住院婴幼儿的临床发病特点及疾病转归。方法对符合CMV感染的87例婴幼儿从感染CMV后的发病时间,CMV侵袭器官所致器官相应损害的临床发病类型,实验室及相关影像学检查包括头颅B超,胸部X线及脑干视、听觉诱发电位检查及疾病转归进行综合分析。结果87例CMV感染婴幼儿中先天性CMV感染占27.6%,围生期CMV感染占62.0%,生后CMV感染占16.6%;CMV肝炎是最常见的临床类型,发生率为41.3%,其中脾大发生率10.3%,多数患儿预后好,好转率80.5%;中枢神经系统异常的发生仅见于先天性和围生期感染患儿,本组神经系统异常发生率20.4%;先天性CMV感染中全身性感染占16.7%,围生期全身性感染占1.8%,生后感染者无全身性感染发生;先天性CMV感染的死亡率12.5%,围生期感染的死亡率1.85%。结论CMV感染是导致婴幼儿肝炎综合征的重要原因,是造成婴幼儿神经系统后遗症不可忽视的因素;先天性CMV感染中全身性感染病死率高,预后差。     

新生儿先天性心脏病54例

目的 分析新生儿先天性心脏病(CHD)的临床特点,为早期诊断提供依据.方法 收集本院2005年5月- 2010年8月54例CHD患儿.男31例,女23例;胎龄30～41周;出生体质量1200～3920g.分析CHD患儿的病理类型、病史、临床表现和辅助检查等情况.采用心脏彩色多普勒超声诊断仪探查其左心室长轴、大动脉短轴、四腔心(胸骨旁、心尖、剑突下),必要时胸骨上窝探查其主动脉弓,证实其心血管畸形存在.结果 新生儿非发绀型CHD占75.93％,发绀型占24.07％;非发绀型CHD中病理类型共有8种,其中以ASD、PDA和VSD居多;发绀型CHD病理类型有7种,以大动脉转位和法洛四联症较多.临床表现以发绀、呼吸急促、心脏杂音等最为常见.早产儿发绀型CHD发生率为62.50％,足月儿为7.89％,二者比较差异有统计学意义(P＜0.01).结论 新生儿CHD的临床表现不典型,早期诊断较困难,对可疑病例应引起重视,结合辅助检查尽早诊断.     

婴儿先天性巨结肠与巨细胞病毒感染

为了解婴儿先天性巨结肠（ＨＤ）与巨细胞病毒（ＣＭＶ）感染的关系，对１９例２～１８个月的ＨＤ患儿（经病理证实）的血清、尿和组织块用病毒分离和ＤＮＡ探针杂交方法进行ＣＭＶ检测。结果：１９例ＨＤ患儿分离ＣＭＶ的１９份尿标本中２份污染，在１７份尿标本中７份阳性，阳性率为４１．２％；正常儿尿标本阳性率为１４．４％（Ｐ＜０．０５）。１９例ＨＤ血清中，ＣＭＶＩｇＭ抗体２例阳性，阳性率为１０．５％；正常儿阳性率为８．０％（Ｐ＞０．０５）。１９例ＨＤ痉挛段组织块中无一例ＣＭＶ阳性，但６例ＨＤ痉挛段组织块ＣＭＶ－ＤＮＡ探针杂交全部阳性，其中２例强阳性，阳性率为１００％。说明婴儿ＨＤ与ＣＭＶ感染关系密切，ＣＭＶ感染可能是包括ＨＤ在内的一些先天性畸形的重要致畸因素。