极长链酰基辅酶A脱氢酶缺乏症一例并文献复习

目的探讨中国人群极长链酰基辅酶A脱氢酶缺乏症(VLCADD)的临床特点及基因突变位点情况。方法回顾性分析郑州大学第三附属医院诊治的1例VLCADD患儿的临床诊治经过及基因位点;以"极长链酰基辅酶A脱氢酶缺乏症"为检索词, 检索万方数据库及中国知网数据库, 以"very long chain acyl-coenzyme A dehydrogenase deficiency"和"China"或"Chinese"为检索词, 检索PubMed数据库, 检索以中国人群为研究对象的相关文献, 总结分析VLCADD患者的临床特点, 探讨基因型与表型之间的关系, 以及新生儿筛查对于VLCADD患者预后的影响。结果根据患儿低血糖、肝脏肿大、肝酶升高、血串联质谱C14:1明显升高, 考虑VLCADD, 给予口服左卡尼汀及富含中链脂肪酸配方奶喂养, 患儿病情好转出院, 随访3年10个月, 生长发育正常, 监测血生化指标基本正常。基因检测发现ACADVL基因复合杂合突变, c.692-2₆92-1delAG (splicing)/c.1276G>A (p.A426T)。通过文献检索...     

儿童大叶性肺炎85例临床分析

目的 分析儿童大叶性肺炎的临床特征,指导临床治疗.方法 对85例大叶性肺炎病例进行回顾性分析.结果 ①学龄儿童多见(64.7%),幼儿亦非少见(35.3%);②发热(100%)、咳嗽(98.82%)为主要临床表现,多为高热(T＞39 ℃)(83.53%);早期多为干咳,病程中出现咳痰(78.82%);③痰培养阳性9例(阳性率23.08%);血培养阳性5例(阳性率9.43%);血清肺炎支原体抗体(MP-IgM)阳性51例(阳性率64.56%);白细胞计数64.71%在正常范围.结论 大叶性肺炎病原种类多样,临床表现不典型,应加强实验室检查,及早明确诊断,合理治疗;MP感染引起的大叶性肺炎发病率有上升趋势,应引起重视. Abstract： Objective To investigate the clinical characters of lobar pneumonia in children for reference of clinical strategy. Methods The clinical datas of 85 lobar pneumonia patients that were diagnosed and treated from July 2003 to July 2009 were analyzed.Results ①The majority of them were school-age children, while young children were not rare; the rate was 64.7% and 35.3% respectively. ②Fever and cough were the main clinical manifestations, mostly for high fever; most of them had cough without sputum firstly, and then sputum occurred. ③The positive rate of sputum culture was 23.08%, 9.43% for blood culture, and 64.56% for MP-IgM in the serum; and white blood cell count was in the normal range in 64.71% patients.Conclusions The pathogen of lobar pneumonia was diverse, and clinical manifestations of lobar pneumonia were not typical. For making early diagnosis, clinical laboratory tests should be strengthened, then we could offer proper treatment.Lobar pneumonia caused by MP infection tendedtoincrease, calling for much more attention.     

初诊为原发性肾炎型肾病综合征患儿的临床病理分析

目的 总结初诊为原发性肾炎型肾病综合征患儿的临床及病理特点,探讨国内原发性肾病综合征临床分型的应用价值及分型标准的可操作性。方法 回顾性分析2014年1月至2020年12月郑州大学第一附属医院儿科收治的初诊为原发性肾炎型肾病综合征患儿的临床及病理资料。结果 纳入研究初诊为原发性肾炎型肾病综合征患儿103例,分型标准：血尿(镜下血尿和肉眼血尿)占93.2%(96/103),高血压占13.6%(14/103),肾功能不全占9.7%(10/103),低补体血症占3.9%(4/103)。103例均行肾穿刺活检,10例行基因检测,最终诊断为原发性肾炎型肾病综合征27例(26.2%),IgA肾病71例(68.9%),Alport综合征3例(其中1例伴IgA肾病),单基因遗传激素耐药型肾病综合征1例(WT1基因变异),电子致密物沉积病(DDD)1例。27例原发性肾炎型肾病综合征确诊患儿表现为血尿者23例(85.2%),其中肉眼血尿5例(18.5%);病理类型：微小病变肾小球病(MCD)6例,局灶节段性肾小球硬化(FSGS)5例,不典型膜性肾病(AMN)5例,膜增生性肾小球肾炎(MPGN)4例,系膜增...