目的 探讨肠道病毒相关性脑炎患儿的临床特点;以期能为临床医师对该病的认识提供一定的帮助。方法 回顾性分析2018年1月—2019年12月广州市妇女儿童医疗中心感染科收治的37例肠道病毒相关性脑炎患儿的临床相关资料。结果 37例患儿男28例,女9例,男女比例3.11:1。主要临床症状体征发热(97.30%)、口腔疱疹和(或)皮疹(54.05%);常见神经系统症状呕吐(56.76%)、头痛(56.76%)、惊厥(29.72%),其中惊厥及呕吐头痛症状≤1岁组与其他年龄组差异有统计学意义;脑脊液检查白细胞升高为主;所有患儿均康复出院且无神经系统后遗症。结论 儿童肠道病毒相关性脑炎近一半患儿临床无咽部疱疹或皮疹表现,1岁以内患儿主要以发热及惊厥为主要表现,大于1岁尤其学龄前期及学龄期患者以发热呕吐伴头疼为主要表现;早期诊治预后良好。

Objective To explore the clinical characteristics of children with enterovirus associated encephalitis, in order to provide some help for clinicians to understand the disease. Methods The clinical data of 37 children with enterovirus related encephalitis treated in the infection department of Guangzhou Women and Children's Medical Center from January 2018 to December 2019 were analyzed retrospectively. Results There were 28 males and 9 females, with a male to female ratio of 3.11:1. The main clinical symptoms and signs were fever (97.30%), oral herpes and/or rash (54.05%); the common nervous system symptoms were vomiting (56.76%), headache (56.76%) and convulsion (29.72%). There were significant differences in convulsion, vomiting and headache symptoms between ≤ 1 year old group and other age groups. The leukocytes level in cerebrospinal fluid was elevated. All children recovered and discharged without neurological sequelae. Conclusions Nearly half of children with enterovirus associated encephalitis had no clinical manifestations of pharyngeal herpes or rash. The main manifestations of children under 1 year old were fever and convulsion. The main manifestations of children over 1 year old, especially preschool and school-age patients, were fever and vomiting with headache. Early diagnosis and treatment had good prognosis.

目的 对3例儿童Rotor综合征的临床特点及SLCO1B1和SLCO1B3基因突变分析,提高儿科医生对Rotor综合征的认识。方法 收集广州市妇女儿童医疗中心2018年—2019年确诊的3例Rotor综合征患儿的临床资料,对患儿及其家系成员肝脏常见遗传代谢性疾病二代测序筛查并家系验证结果进行分析。结果 患儿主要临床表现为反复或持续巩膜和(或)皮肤轻度黄染,实验室检查提示高直接胆红素血症。二代测序发现3例患儿均为SLCO1B1基因c.1738C＞T纯合突变和SLCO1B3基因5号内含子区域大片段插入纯合突变。SLCO1B1基因和SLCO1B3基因2处纯合突变均进行了家系验证。文献报道的SLCO1B1基因c.1738C＞T突变是无义突变,可以造成蛋白功能缺失;SLCO1B3基因的大片段插入突变虽暂未有文献收录或报道,但大片段的插入突变可引起移码突变而造成编码蛋白功能丧失。结论 由于基因检测技术的不断进步,Rotor综合征不断被儿科医生所认识。SLCO1B1和SLCO1B3双基因纯合或复合杂合突变是3例Rotor综合征患儿的分子遗传基础。

Objective To better understand Rotor syndrome(RS)in children,the clinical features and SLCO1B1 and SLC01B3 gene mutations were analyzed. Methods The clinical data of the 3 pediatric cases diagnosed in Guangzhou Women and Children's Medical Center between 2018 and 2019 was collected. Genomic DNA was extracted from the children and their family members, and subjected for second-generation sequencing to screen the known genes for liver genetic metabolic diseases. Then the detected mutations were confirmed by Sanger sequencing analysis. Results The main clinical manifestations were recurrent or persistent mild yellowish sclera and/or skin. Laboratory examinations showed hyperbilirubinemia with direct bilirubin elevating. Second generation sequencing showed that all 3 children were c.1738c＞Thomozygous mutations of SLCO1B1 gene and homozygous mutations of large fragment insertion in SLCO1B3 gene intron 5. Two homozygous mutations in SLCO1B1 gene and SLCO1B3 gene were verified in families.SLCO1B1 gene c.1738C＞T mutation,a nonsense mutation reported in references,could lead to protein function loss.A large insertion mutation of SLCO1B3 gene could cause frame-shift mutation which might lead to protein function loss even though it was neither reported in the references nor recorded in SNP database. Conclusion Due to the progress in the clinical application of gene detection technology, RS has been recognized gradually by pediatricians. Homozygous mutations or compound heterozygous mutations simultaneously occurred in SLCO1B1 and SLCO1B3 gene were the molecular genetics base in these cases of RS.

目的 分析儿童危重症乙型流感患者的临床特点,提高临床医师对此危重症的认识水平。方法 对2017年12月—2018年2月广州市妇女儿童医疗中心收治的7例儿童危重症乙型流感患者的临床资料进行回顾性分析。结果 危重患儿好发年龄以幼儿及学龄前期为主。5例表现为呼吸衰竭,1例表现为心源性休克,1例表现为急性坏死性脑病。起病初(3 d内)均未见白细胞减少,白细胞数最高28.1×10⁹/L。白细胞分类以中性粒细胞为主。痰培养出流感嗜血杆菌、肺炎链球菌各1例。3例存在塑型性支气管炎改变。经积极治疗,体温恢复正常最短2 d,最长7 d,平均(4.20±1.79) d。住院时间最短12 d,最长23 d,平均(16.71±3.90)d。结论 乙型流感危重患儿临床表现多样,可累及多个系统器官;呼吸道合并症最多见,可出现塑型性支气管炎改变;及早识别及积极治疗,预后良好。

Objective To analyze the clinical characteristics of the children with severe influenza B and to provide reference for identifying severe cases. Methods Clinical data of 7 children with severe influenza B were retrospectively analyzed. Results The age ranged from 11 months to 7 years old, with an average was (4.13±2.06) years old. Five cases were characterized by respiratory failure, one by cardiogenic shock and one by acute necrotizing encephalopathy. No leukopenia was observed at the beginning of the disease(in 3 days), and the number of white blood cells was as high as 28.1×10⁹/L, White blood cell classification is dominated by neutrophils. haemophilus influenzae and streptococcus pneumoniae were produced by sputum culture in 1 case for each. Three patients had plastic bronchitis changes. After active treatment, the body temperature returned to normal with minimum 2 days, longest 7 days and average (4.20+1.79)days. The length of stay was the shortest 12 days, the longest 23 days, and the average (16.71+3.90) days. Conclusion The clinical manifestations of severe influenza B are diverse and may involve multiple system organs. Respiratory complications were the most common, with plastic bronchitis changes. Early recognition and active treatment had a good prognosis.

目的 探讨儿童不明原因肝功能异常的临床特点、病因及预后,为临床及时对因治疗提供帮助。方法 回顾性分析本院2016年1月—2017年12月期间205例以不明原因肝功能异常住院患者的临床资料,并对其临床特点、病因及预后进行分析。结果 在205例不明原因肝功能异常患者中,其中166例(80.97%)得到明确诊断,涉及多种疾病。其中分别为非嗜肝病毒所致感染性肝损104例(50.73%),遗传代谢疾病38例(18.54%),药物性肝损11例(5.37%),全身性疾病如川崎病6例(2.93%)、血液肿瘤疾病4例(1.95%)、营养不良3例(1.46%)等,原因未明 39例(19.02%)。结论 引起肝功能异常病因多且复杂。婴幼儿肝功能异常以非嗜肝病毒所致感染性肝损为主,感染主要为巨细胞病毒及EB病毒;遗传代谢性疾病、药物性肝损、全身性疾病也是造成肝功能异常的重要原因。

Objective To investigate the clinical features, etiology and prognosis of children patients with unexplained liver dysfunction. Methods The clinical data of 205 inpatients with unexplained liver dysfunction from January 2016 to December 2017 were analyzed retrospectively. The clinical characteristics, etiology and prognosis were analyzed. Results Of 205 patients with unexplained abnormal liver function, 166 patients with liver dysfunction (80.97%) were clearly diagnosed and involved in a variety of diseases. Among them, 104 cases were infected liver damage caused by non-hepatophilic virus, 38 cases were related to genetic metabolic diseases, 11 cases were drug-induced liver damage, 6 cases were Kawasaki disease, 4 cases were hematologic tumor diseases, 3 cases were malnutrition. The cause of abnormal liver function was not clear in 39 cases. Conclusion There are many and complicated causes of abnormal liver function, and part of the causes are unknown. Infantile liver dysfunction was mainly caused by non-hepatophilic virus, the first was cytomegalovirus, the second was Epstein-Barr virus; genetic metabolic disease, drug-induced liver damage, systemic disease are also an important cause of liver dysfunction.

目的 探讨儿童登革热(DF)合并肝功能损害的临床特征。方法 对2014年8—12月我院感染科收治住院的78例儿童DF的临床资料进行回顾性分析。结果 并发肝功能损害36例(46.15%),其中血清丙氨酸转氨酶(ALT)升高24例(30.77%),血清天冬氨酸转氨酶(AST)升高33例(42.31%);27例(75%)ALT/AST病程2周内恢复正常,9例于1月复查恢复正常。仅有1例总胆红素(TBIL)升高80.8 μmol/L,直接胆红素升高为主,1周后恢复正常。肝功能损害组较无肝功能损害组在外周血白细胞水平、血小板水平差异有统计学意义(P<0.05)。结论 儿童DF并肝功能损害较普遍,以轻度损害为主。与年龄、性别、皮疹、外周血白细胞、血小板有相关性。

Objective To approach the clinical characteristics of children dengue fever combined liver function damage. Methods Clinical data of 78 cases of children dengue fever in our hospital were retrospectively analyzed from August to December in 2014. Results 36 cases (46.15%) complicated with liver function damage. Among them 24 cases (30.77%) of serum alanine aminotransferase (ALT) increased, 33 cases (42.31%) of serum aspartate aminotransferase (AST) increased; 27 cases (75%)ALT/AST returned to normal within 2 weeks, 9 cases were recovered to normal in 1 month. Only 1 cases of total bilirubin (TBIL) increased to 80.8 mol/L, recovered after 1 week. Liver injury group and non liver injury group of peripheral blood leukocytes, platelets level comparison was statistically significant (P<0.05). Conclusion Children dengue fever combined liver function damage was common, mainly mild. There was correlation with age, gender, skin rash, peripheral blood leukocytes and platelets.