目的 总结儿童巨噬细胞活化综合征(MAS)的临床特征,为临床早期识别和诊断提供参考.方法 纳入20例MAS患儿,回顾性分析其原发疾病、诱因、临床表现、实验室检查结果、治疗及预后等.比较继发于全身型幼年特发性关节炎(sJIA)和川崎病的MAS患儿的实验室检查结果和死亡情况.结果(1)川崎病是最常见的原发疾病(10例,占50％),其次为sJIA(7例,35％).诱发因素中,感染是最常见的诱因,病原体以EB病毒最常见.(2)20例患儿均有高热,95％(19/20)的患儿还存在多系统损害表现,包括皮疹、肝脾肿大、浆膜腔积液、神经系统损害、肾脏和胃肠道损害、关节痛和/或肌痛、淋巴结肿大.(3)血清铁蛋白水平升高和外周血两系下降是最常见的实验室表现,共15例存在骨髓涂片异常(6例可见噬血细胞,9例可见吞噬细胞);接受可溶性CD25检查、自然杀伤细胞活性检查的患儿分别仅有5例、2例.与继发于川崎病的MAS患儿相比,继发于sJIA的MAS患儿的血沉、血清铁蛋白、γ-谷氨酰转移酶水平更高,而血红蛋白及血清肌酐水平更低(均P<0.05).(4)3例患儿在确诊MAS后30 d内死亡,病死率达15％(3/20).川崎病组的病死率为20％(2/10),高于sJIA组的14.29％(1/7),但差异无统计学意义(P>0.05).结论 对于风湿免疫性疾病患儿,一旦出现多系统受累,尤其是合并两系及以上血细胞减少及血清铁蛋白明显升高时,应高度警惕MAS的可能.临床上应积极完善病原学检查,寻找诱发因素,重视慢性EB病毒感染.组织学检查噬血现象及自然杀伤细胞活性、可溶性CD25、噬血相关基因检查有助于MAS的早期诊断.

目的 分析儿童新型冠状病毒肺炎(COVID-19)的临床流行病学特征及影响因素分析.方法 回顾分析2020年2月份本院收治的58例儿童COVID-19的流行病学、实验室检测、暴露情况等资料.以同期收治的25例普通病毒性肺炎儿童患者为对照,分别进行单因素及多因素Logistic回归分析,探讨儿童感染COVID-19的影响因素.结果 58例儿童COVID-19均为新冠肺炎普通型病例,男37例,女21例;年龄最小为8月,最大为15岁;发热54例,最高40℃;31例为干咳,13例为咳痰,14例无明显咳嗽症状;发病到确诊平均时间为(5.2±2.8)d;平均住院时间(8.7±2.0)d.单因素及多因素分析显示,淋巴细胞计数下降(OR=3.25,95％CI=1.07～9.84)、C-反应蛋白水平升高(OR=0.34,95％CI=0.13～0.91)、CD3+T下降(OR=3.45,95％CI=1.05～11.36)和CD16+CD56+下降(OR=3.01,95％CI=1.12～8.10)是儿童COVID-19的高危因素.结论 儿童COVID-19均为家族聚集感染,以普通型病例常见,临床治疗预后较好,平均潜伏期为5 d,临床表现以发热,伴有干咳或无咳嗽症状.淋巴细胞计数下降和CD3+T细胞、CD16+CD56+T细胞降低是发病的高危因素,C-反应蛋白水平升高是保护因素.

通过实时PCR及蛋白质印迹法测定肝组织中Toll样受体(TLR)4 mRNA及蛋白质表达, 并检测血清丙氨酸转氨酶(ALT)、天冬氨酸转氨酶(AST)水平, 研究大黄素对脂多糖诱导小鼠急性肝损伤的作用及其机制。结果显示大黄素处理各组肝组织中TLR4 mRNA及蛋白质表达水平、血清中ALT和AST水平均明显低于模型组, 大黄素能减轻脂多糖诱导的肝组织病理学损伤。提示大黄素可能通过抑制TLR4的表达而对脂多糖诱导的急性肝损伤起保护作用。

目的 探讨川崎病(KD)患儿冠状动脉损伤与血浆可溶性不规则趋化因子(sFKN)水平的关系.方法 选取2016年1月—2018年3月在我院就诊的川崎病患儿50例,根据超声心动图检查结果分为冠状动脉损伤组(21例)和无冠状动脉损伤组(29例),另选取30名健康儿童作为对照组.检测川崎病患儿外周血白细胞计数(WBC)、血小板计数(PLT)、纤维蛋白原(FIB)、C反应蛋白(CRP)、红细胞沉降率(ESR)、天冬氨酸氨基转移酶(AST)、活化部分凝血酶时间(APTT)、凝血酶原时间(PT)和sFKN水平.采用彩色超声仪检测冠状动脉内径扩张值.结果 冠状动脉损伤组WBC、CRP、ESR、PLT、APTT、PT和FIB均高于对照组,差异均有统计学意义(P<0.05);冠状动脉损伤组ESR和PLT明显较无冠状动脉损伤组高,差异均有统计学意义(P<0.05).冠状动脉损伤组和无冠状动脉损伤组sFKN水平和冠状动脉内径扩张值均高于对照组,差异均有统计学意义(P<0.05);冠状动脉损伤组sFKN水平和冠状动脉内径扩张值均高于无冠状动脉损伤组,差异均有统计学意义(P<0.05).结论 血浆sFKN与川崎病患儿冠状动脉损伤有关,其可能促进冠状动脉损伤的发生和发展.

目的 探讨儿童系统性红斑狼疮(SLE)并发肺部感染的病原菌特征与影响因素,为感染的预防和控制工作提供研究依据.方法 选取2016年1月-2018年12月华中科技大学同济医学院附属武汉儿童医院收治的SLE患儿117例作为研究对象,对合并肺部感染患儿病原菌情况进行分析,分析患儿性别、年龄、病程及应用免疫抑制剂等临床资料,归纳系统性红斑狼疮患儿肺部感染的影响因素.结果 确诊为肺部感染患儿35例,感染率为29.91％,其中31例患儿的痰样本中检出致病菌,检出率为88.57％.革兰阴性菌19株占61.29％,以大肠埃希菌、肺炎克雷伯菌、铜绿假单胞菌为主;革兰阳性菌8株占25.81％,以金黄色葡萄球菌、肺炎链球菌为主;真菌4株占12.90％,以白假丝酵母为主.革兰阳性菌对青霉素G、红霉素、磺胺甲噁唑/甲氧苄啶的耐药株数较多.革兰阴性菌对阿莫西林、磺胺甲噁唑/甲氧苄啶、氨苄西林、红霉素、庆大霉素的耐药株数较多,对头孢哌酮/舒巴坦、阿米卡星的耐药株数较少.受累器官数量、血红蛋白水平、应用大剂量激素是系统性红斑狼疮患儿肺部感染的影响因素(P＜0.05).结论 SLE合并肺部感染患儿的主要病原菌是革兰阴性菌,其发生与重要器官损害情况、营养水平及应用激素治疗等因素有关,临床应给予积极的预防干预措施,选用敏感性抗菌药物进行抗感染治疗.

目的 研究多关节型幼年特发性关节炎(JIA)活动期血管内皮功能变化,氧化应激水平及血脂代谢等相关因素的影响.方法 将2015年1月至2017年12月华中科技大学同济医学院附属武汉儿童医院住院的多关节型JIA活动期患儿42例分为类风湿因子(RF)阳性及RF阴性组,同期23名健康儿童作为对照组,检测各组肱动脉血流介导的扩张反应(FMD)和颈动脉内中膜厚度(cIMT)、血脂、氧化应激水平并进行比较分析.结果 3组肱动脉FMD均明显下降,RF阳性组下降更明显,差异有统计学意义(P＜0.05),cIMT比较差异无统计学意义(P＞0.05).RF阳性组与对照组比较,血清三酰甘油(TG)水平明显升高,高密度脂蛋白胆固醇(HDL-C)水平明显下降,差异均有统计学意义(P均＜ 0.05),血清8-异前列腺素F2a(8-iso-PGF2α)明显升高,差异有统计学意义(P＜0.001).RF阴性组与对照组比较,血脂水平差异无统计学意义(P＞ 0.05).血清8-iso-PGF2α明显升高,差异有统计学意义(P＜0.01).RF阳性组与RF阴性组比较,血清8-iso-PGF2α升高更明显,差异有统计学意义(P＜0.05).多关节型JIA肱动脉FMD与血清8-iso-PGF2α呈负相关(r=-0.54,P＜0.01).结论 多关节型JIA活动期存在血管内皮功能障碍,RF阳性者更明显,其可能与氧化应激水平升高有关,尚不能确定与血脂紊乱有关.

OBJECTIVE To study the serum lipid profile in children with different subtypes of juvenile idiopathic arthritis (JIA) during active and remission stages, as well as the long-term risk of atherosclerosis in children with JIA. METHODS A total of 128 children newly diagnosed with active JIA were divided into oligoarticular JIA group with 48 children, polyarticular JIA group with 38 children, systemic JIA group with 22 children, and enthesitis-related JIA group with 20 children. According to the presence or absence of rheumatoid factor (RF), the polyarticular JIA group was further divided into RF-positive polyarticular JIA group with 15 children and RF-negative polyarticular JIA group with 23 children. A total of 45 children who underwent physical examination were randomly selected as healthy control group. The serum levels of total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C) were measured and compared between groups. Blood lipid parameters were reexamined for 87 children in the remission stage after treatment and were compared with those in the active stage. RESULTS Compared with the healthy control group, the systemic JIA group and the RF-positive polyarticular JIA group had a significant reduction in HDL-C and a significant increase in TG (P<0.05) in the active stage, while there were no significant differences in TC and LDL-C (P>0.05). There were no significant differences in blood lipid parameters between the other subtype JIA groups and the healthy control group (P>0.05). The RF-positive polyarticular JIA group had a significant increase in plasma HDL-C from the active stage to the remission stage (P<0.05), while the other subtype JIA groups had no significant changes in blood lipid parameters (P>0.05). CONCLUSIONS Dyslipidemia may be observed in the active stage of children with systemic and RF-positive polyarticular JIA, with improvement in the remission stage of children with RF-positive polyarticular JIA. Further studies are needed to observe the long-term risk of atherosclerosis.

Juvenile idiopathic arthritis (JIA) is the most common chronic arthritis in childhood,and its pathological changes are similar to the inflammatory process of atherosclerosis.The traditional risk factors of cardiovascular disease include hypertension,dyslipidemia,obesity,diabetes,and so on.These risk factors may have a superposition effect on the inflammatory reaction of JIA and cause vascular endothelial dysfunction,but whether this will increase the risk of cardiovascular disease in JIA in the future,whether JIA is a new cardiovascular risk factor is still to to be confirmed.

目的 分析匹多莫德在幼年特发性关节炎(JIA)患儿感染预防和免疫调节中的作用,为感染的预防和控制工作提供研究依据.方法 选取2015年8月-2016年8月的70例JIA患儿作为研究对象,根据治疗方案分为试验组和对照组,每组35例.对照组患儿给予常规治疗方案,试验组患儿在常规治疗方案的基础上加用口服匹多莫德治疗.对两组患儿治疗前后的CD4+T淋巴细胞比例、CD8+T淋巴细胞比例、CD4 +/CD8+T淋巴细胞比值、自然杀伤细胞(NK细胞)比例及血清免疫球蛋白G(IgG)、免疫球蛋白M(IgM)、免疫球蛋白A(IgA)水平进行检测和比较;对两组患儿出院后连续随访12个月,对两组患儿在随访期间的感染次数、严重感染比例、单次感染持续时间进行观察和比较;对两组患儿进行疗效评价和比较.结果 治疗后,试验组患儿的CD4+T淋巴细胞比例、CD8+T淋巴细胞比例、CD4 +/CD8+T淋巴细胞比值、NK细胞比例及血清IgG、IgM、IgA水平分别为(33.62±8.22)％、(23.36±12.05)％、(1.39±0.65)、(14.31±2.03)％、(16.16±3.76)g/L、(1.82±0.43)g/L、(2.01±0.62)g/L,均优于对照组患儿的(28.76±5.64)％、(30.34±10.27)％、(1.00±0.68)、(11.05±2.71)％、(10.98±3.69)g/L、(1.19±0.45)g/L、(1.62±0.63)g/L(P＜0.05);试验组患儿的感染次数、严重感染概率、单次感染持续时间分别为(2.92±1.53)次、11.43％、(2.65±3.92)d均低于对照组的(7.38±3.25)次、40％、(9.18±5.23)d(P＜0.05);试验组患儿临床有效率为88.57％,高于对照组患儿的临床有效率34.29％(x2=21.766,P＜0.001).结论 在JIA患儿的治疗中,于常规药物疗法的基础上加用匹多莫德,能在一定程度上调节幼年特发性关节炎的免疫紊乱状态,降低感染的发生率和严重程度,有利于提高治疗依从性、确保治疗效果.

目的 探讨检测川崎病(KD)患儿淋巴细胞亚群及免疫球蛋白的临床价值.方法 入选388例KD患儿,160例感染发热性疾病患儿,85例健康体检的正常对照儿童;采用流式细胞仪检测T淋巴细胞亚群、自然杀伤细胞(NK细胞)和B淋巴细胞绝对值和百分比,速率散射比浊法检测血清IgG,IgM,IgA和补体C3、C4水平.结果 与感染发热性疾病患儿及正常对照儿童相比,KD患儿B细胞、补体C3和CD4/CD8比值显著升高,而CD8+T细胞和NK细胞百分比下降,CD3+T细胞的绝对值升高,差异均有统计学意义(P均＜0.05).结论 淋巴细胞亚群和补体可作为鉴别KD和了解KD发病机制的实验室指标.

ObjectiveTo explore the expression of small heterodimer partner(SHP)in rat model with acute cholestatic hepatitis and to investigate the therapeutic mechanism of emodin.MethodsA total of 40 Sprague-Dawley(SD)rats were randomly divided into 4 groups,namely normal group,model group,emodin group and ursodeoxycholic acidgroup,10 rats in each group. Except for the normal group,rats in other three groups were given intragastric gavage of alpha-naphthylisothiocyanate(ANIT)50 mg·kg-1 at one time to induce acute cholestatic hepatitis,and then were given normal saline,emodin,ursodeoxycholic acid respectively according to the grouping. Forty-eight hours after the model establishment,blood samples were collected from abdominal aorta to examine the total bilirubin(TB),direct bilirubin (DB),alanine aminotransferase(ALT),total bile acid(TBA),aspartate aminotransferase(AST),alkaline phosphatase (ALP),and gamma glutamine transferase(GGT)with automatic biochemical analyzer. Real-time PCR and Western blot methods were used to detect the mRNA and protein expression of SHP in the hepatic tissue.ResultsThe SHP mRNA and protein expression levels of the model group were 0.559±0.194,0.313±0.087 respectively,significantly lower than those of the normal group(P< 0.05). The SHP mRNA and protein expression levels of the emodin group were 0.892±0.390,0.706±0.193 respectively,significantly higher than those of the model group(P< 0.05). The serum levels of TB,DB,ALT,TBA,AST,and ALP of the emodin group were all significantly lower than those of the model group(P< 0.05). The serum levels of TB,DB,ALT,TBA,AST,ALP of the emodin group were all significantly lower than those of the ursodeoxycholic acid group(P< 0.05). Pathdogical changes of hepatic tissues of emodin group and ANIT group were improved compared with the model group,and the improvement was more obvious in emodin goup.ConclusionThe decreased SHP mRNA and protein levels are shown in hepatic tissue of acute cholestatic hepatitis rats,and emodin has a notable effect on decreasing serum TB,DB,ALT,TBA,AST,ALP levels and on relieving pathological changes of hepatic tissue of rats with ANIT-induced cholestatic hepatitis. Emodin has better effects than ursodeoxycholic acid. And the therapeutic mechanism of emodin is related with the enhancement of SHP expression.

对5例难治性全身型幼年特发性关节炎患儿应用托珠单抗进行治疗。用药前评估、用药的护理、药物的储存、药物配制、注射方法、不良反应的观察和预防、心理护理及出院后的健康指导是顺利完成整个用药疗程的保障。1例患儿在输液过程中出现躯干部少量皮疹伴瘙痒,1例出现足趾末端感染,经对症处理均消退,其余患儿无不良反应发生。应用托珠单抗治疗儿童难治性全身型幼年特发性关节炎安全、有效,给予正确的护理后能减少不良反应的发生并确保疗效。

Objective To investigate the relationship of single nucleotide polymorphism (4G/5G) in the promoter of plasminogen activator inhibitor-1 (PAI-1) and plasma PAI-1 level with gastrointestinal bleeding in Henoch-Sch?nlein purpura (HSP). Methods A total of 524 children with HSP in acute phase were recruited, and divided into gastrointestinal bleeding group (bleeding group, n?=?186) and non-gastrointestinal bleeding group (control group, n?=?338). The genotype frequency of 4G/5G polymorphism, the plasma PAI-1 level, and other parameters related to coagulation and ifbrinolysis were measured and compared between two groups. Results The levels of platelet count (PLT), platelet distribution width (PDW), serum D dimer (DD), serum PAI-1 were signiifcantly higher in the bleeding group than those in the control group, and the levels of mean platelet volume (MPV) and plasma ifbronectin protein of ifbrinogen (FIB) were signiifcantly lower in the bleeding group than those in the control group (P?<?0.05). The genotype frequency of 4G/4G was signiifcantly higher in the bleeding group than that in the control group (P?=?0.044). The plasma PAI-1 level and DD level was high in 4G/4G genotype. Conclusions The gene polymorphism of PAI-1 4G/5G may affect the pathological process of gastrointestinal bleeding in HSP by inlfuencing the expression of PAI-1 and other factors related to coagulation and ifbrinolysis systems.

Objective To summarize onclusion of the 631 cases of c - type globulin no reaction type of kawasaki disease clinical imaging characteristics and merges other etiology infection status. Methods In September 2011 to December 2013,631 cases of children with Kawasaki disease onset within 10 d received intravenous gamma globulin(IVIG)therapy were selected. The treated first effective for sensitive group,the in-valid is no reaction group,two groups of children with different pathogens,the incidence of infections,imaging characteristics of statistical analy-sis? Results ①631 cases of kawasaki disease was diagnosed with the standard and accept all the children kawasaki disease treatment globulin, including c - type globulin treatment sensitive in 591 cases. No responders c - type globulin treatment in 40 cases,no reaction c - type globulin type of kawasaki disease rate of 6. 34% . ②The incidence of mycoplasma infection,coronary dilatation,coronary distension in no reaction group were higher than sensitive group( P < 0. 05). No reaction again in the choice of treatment,11 cases accepted additional IVIG 2 g/ kg treatment, 29 cases accepted hormone therapy,coke back. ③No responders accept c - type globulin additional IVIG and accept the hormone therapy in pa-tients with two groups by again after treatment. The incidence of coronary lesions did not show obvious difference. Conclusion The incidence of kawasaki disease in IVIG no reaction type concurrent mycoplasma infection,abdominal cavity effusion,appeared in the incidence of coronary dis-tension are higher. Hormone and additional IVIG treatment are valid in the choice of no responders c - type globulin treatment again.

目的:总结血清降钙素原(PCT)和前白蛋白(PA)水平在川崎病(KD)中的改变,分析其与静脉注射免疫球蛋白(IVIG)治疗无反应、冠状动脉损害(CAL)的关系,探讨PCT和PA在KD中的临床诊断价值.方法:免疫化学发光法定量检测116例KD患儿治疗前后的PCT水平,全自动生化分析仪检测血清PA水平.结果:①治疗前KD组血PCT值、PA值与对照组比较差异有统计学意义(P＜0.01),显示两者与健康对照组相比较均有明显的临床意义.②PCT值与PA预测是否对冠状动脉损害的卡方检验中有统计学意义(P＜0.01).③PCT与PA预测丙种球蛋白有无耐药的卡方检验中无统计学意义(P＞0.05).④PCT＞0.5并PA＜80预测丙种球蛋白有无耐药中无统计学意义(P＞0.05),对于预测冠状动有无损害中有统计学意义(P＜0.01).⑤PA＜80预测冠状动脉是否损害的ROC曲线中,曲线面积为0.529＞0.5,有准确性.⑥PCT＞0.5预测川崎病丙种球蛋白有无反应的ROC曲线中,曲线面积为0.591＞0.5,有准确性.结论:治疗前高PCT及PA对于川崎病诊断有明确的诊断意义;PCT越高,PA越低可作为预测冠状动脉损害的指标,特别是PCT＞0.5并PA＜80更能增加这种预测因素的概率,同时ROC曲线也得到相应证实,但是不能预测丙种球蛋白是否耐药.

Objective To investigate the clinical features and genetic basis of cryopyrin-associated periodic syndrome (CAPS). Methods The clinical manifestations, laboratory tests, and genetic tests of one case of CAPS were retrospectively analyzed. The related literatures were reviewed. Results A 7 year and eight month old male patient had recurrent fever for 7 years and his whole body was covered with patchy red rash which was itchy and faded with pressure. The limbs and joints were normal. The levels of high-sensitivity C-reactive protein, erythrocyte sedimentation rate, rheumatoid factors were increased. The patient had fundus arteriosclerosis, double conjunctival lesions and nerve deafness on both sides. There was no mutation found in NLRP3 gene coding region, but a heterozygous mutation (-2667G>T) had been found in 5 ' untranslated region. Compared with normal control, the mRNA level of NLRP3 increased 4.2 times and the expressions of IL-1βand IL-18 gene increased 2.2 (P=0.002) and 1.2 times (P>0.05). Conclusions The clinical features of CAPS can be recurrent fever, rash, and joint involved. The oph-thalmologic abnormalities and varying degrees of deafness may occur during the progression. The test of NLRP3 gene may help diagnosis.

目的 检测幼年特发性关节炎(JIA)血清降钙素原(PCT)改变,探讨PCT在JIA诊断中的临床意义.方法 检测2011年1月至2012年12月湖北省武汉市妇女儿童医疗保健中心风湿免疫科150例JIA患儿血清PCT和C反应蛋白(CRP)值,比较PCT和CRP对诊断JIA细菌感染的敏感度、特异度、阳性预测值、阴性预测值.同时,检测PCT在JIA各种临床类型的表达情况.结果 JIA细菌感染组血清PCT与CRP值,均明显高于JIA病毒感染组、JIA活动不伴感染组及对照组,差异均有统计学意义(P均＜0.05).以PCT≥0.5μg/L及CRP≥8 mg/L为诊断细菌感染的阳性阈值,两指标敏感度分别为76.2％、85.7％,特异度分别为87.6％、51.9％,阳性预测值分别为50.0％、21.2％,阴性预测值分别为95.8％、95.4％,阳性似然比6.14、1.65,阴性似然比0.27、0.30.ROC曲线下面积:PCT为0.928,优于CRP(0.714),差异有统计学意义(u=2.19,P＜0.05).98.99％ (98/99) JIA活动不伴感染组PCT值＜0.5 μg/L,中位数为0.2 μg/L.66.7％(66/99)JIA活动不伴感染组PCT值＜0.1 μg/L.结论 血清PCT值对JIA并发细菌感染具有重要鉴别意义,其预测感染价值优于CRP.推荐PCT值＞0.5 μg/L作为诊断JIA合并感染临界值.

目的:通过检测幼年特发性关节炎(JIA)患儿血清中降钙素原(PCT)的改变,以探讨PCT在JIA中的临床意义.方法:检测该科150例JIA患儿血清PCT和C反应蛋白(CRP)值,比较PCT和CRP对诊断JIA非病毒感染的敏感性、特异性、阳性预测值、阴性预测值,同时检测PCT在JIA各种临床类型中的表达情况.结果:PCT值在JIA非病毒感染(包括细菌、支原体等)组为(3.26±0.94) ng/mL,明显高于JIA病毒感染组(0.05±0.01) ng/mL、JIA非感染组(0.19±0.01)ng/mL及对照组(0.02±0.01)ng/mL,差异有统计学意义(P＜0.05),而血清PCT值在JIA病毒感染组、对照组之间的差异无统计学意义(P＞0.05).以PCT≥0.5 ng/mL为诊断非病毒感染的阳性阈值,敏感性为76.92％,特异性为87.60％,阳性预测值55.56％,阴性预测值94.96％,阳性似然比15.23,阴性似然比0.22.98.99％的JIA非感染组PCT值≤0.5 ng/mL,中位数为0.2 ng/mL.66.67％的JIA非感染组PCT值≤0.1 ng/mL.结论:检测血清PCT值对于JLA患儿并发非病毒性感染具有重要的鉴别意义,其预测感染价值优于CRP.可考虑推荐PCT值＞0.5 ng/mL作为诊断JIA合并感染的临界值.

在我国低出生体重儿占活产婴儿的5％,由于其胃肠道消化功能及免疫功能的不成熟,需要靠胃肠外营养(parenteral nutrition,PN)来改善其生活质量.但随之而来的胃肠外营养相关性胆汁淤积症(parenteral nutrition associated cholestasis,PNAC)是PN应用过程中的一种严重并发症,新生儿PNAC的发生率为7％ ～ 84％[1].有报道长期接受PN的患儿PNAC发病率达40％ ～60％,且部分可以发展成肝衰竭而死亡[2].因此探讨如何有效地治疗PNAC是儿科医生面临的亟待解决的问题.目前关于中西医结合治疗PNAC的临床报道较少,有报道采用茵栀黄注射液治疗PNAC取得了一定的疗效[3].笔者采用中西医结合疗法治疗60例PNAC患儿,取得了较好的临床疗效,现报告如下.

Objective To investigate the clinical features of X-linked agammaglobulinemia(XLA),and to explore the importance of genetic diagnosis to XLA.Methods The clinical features,laboratory examinations and genetic testing of a case of XLA were retrospectively analyzed.Meanwhile,the epidemiology and mechanisms,especially the genetic testing of XLA in the relevant literatures were reviewed.Results The XLA patient infected repeatedly with the clinical manifestations of pneumonia and bronchial pneumonia and had a progressive sensorineural deafness.The level of high-sensitivity C-reactive protein(hs-CRP) of the patient was increased(103 mg/L) and various immunoglobulins were decreased.The percentages of T lymphocyte cells were elevated.Both the percentage and the absolute number of CD19+ B lymphocytes were zero.The results of genetic testing indicated that there was a large deletion including from exon7 to exon19 of BTK gene,and the whole TIMM8A gene.Conclusions The clinical manifestation of the patient with XLA showed recurrent infections with decreased immunoglobulin and B lymphocytes in peripheral blood.Genetic testing of BTK gene is helpful for the clinical diagnosis.