伴噬血细胞综合征表现的婴幼儿利什曼原虫感染16例临床分析

目的探讨伴噬血细胞综合征(HPS)表现的婴幼儿利什曼原虫感染的临床诊断、治疗和预后。方法对2007年12月至2009年12月新疆维吾尔自治区人民医院儿科收治的16例伴HPS表现的婴幼儿,通过分析其临床表现、实验室检测结果,结合其居住地,提出病因诊断及治疗措施。结果 16例均来自新疆塔里木盆地地区。其临床表现、实验室检测均符合HPS的诊断。其中骨髓检测找到利杜体(利什曼原虫)9例,血清利什曼原虫基因表达产物(rK39)-酶联免疫吸附实验(ELISA):检测结果阳性14例。16例中2例最初误诊为家族性HPS,治疗无效死亡。其后14例患儿因被确诊为内脏利什曼原虫感染所致的黑热病,给予葡萄糖酸锑钠治疗,均达到临床治疗有效标准。结论新疆塔里木盆地地区的婴幼儿HPS,应该首先考虑利什曼原虫感染所致。血清rK39-ELISA检测结果可协助诊断利什曼原虫感染。伴HPS表现的婴幼儿利什曼原虫感染,病情凶险,如误诊可在短时间内死亡。     

儿童内脏利什曼病相关性噬血细胞性淋巴组织细胞增生症四例临床分析

目的 总结分析4例内脏利什曼病(VL)相关性噬血细胞性淋巴组织细胞增生症(HLH)患儿的临床资料,提高继发性HLH诊治水平.方法 回顾性总结两家医院近期诊断的4例VL-HLH患儿的临床特征及诊治经过.结果 本组4例患儿男3例、女1例,均来自于明确VL疫区或具有明确疫区生活史.以长期发热、肝脾肿大、外周血全血细胞减少为显著临床表现,结合相关实验室检查均符合HLH诊断标准.2例患儿接受HLH化疗并有效,表现为体温恢复正常和脾脏回缩等,但持续贫血为突出临床特征.病程早期骨髓检查和(或)rk39免疫试纸条法检测均无阳性发现,是导致漏诊和误诊的重要原因.结论 VL是导致继发性HLH的1种少见基础疾病.对来自VL疫区或具有疫区生活史的患儿,HLH鉴别诊断时应充分考虑VL可能性,需反复骨髓检查和(或)免疫学检查,早期诊断,及时予VL特异性治疗.

Abstract：

Objective The clinical features of four cases of visceral leishmaniasis (VL)-associated hemophagocytic lymphohistiocytosis(VL-HLH)were retrospectively analyzed for the purpose of helping the diagnosis of secondary HLH. Method Clinical data of three childhood cases of VL-HLH documented in our hospital and one case diagnosed in the Capital Institute of Pediatrics was reviewed retrospectively,with particular emphasis on peculiar clinical manifestations and on clues to the diagnosis of this relatively rare disease entity.Result Three children were from endemic areas of VL, and the other one had lived in endemic area for one year,which was revealed by detailed history-taking.Clinically,VL-HLH is characterized by persistent fever, hepatosplenomegaly and pancytopenia, which is similar to those of HLH, and is one of the important reasons of delayed diagnosis or misdiagnosis. Based on the HLH-2004 protocol, all the four cases met the diagnostic criteria of HLH. In addition, bone marrow aspirate and immunologic detection of VL-specific antibody via rk39 dipstick test during the early disease course of VL-HLH yielded negative results.Two cases who received HLH-targeted therapy responded reasonably well, with rapid temperature normalization and spleen retraction. Nevertheless,Hb remained lower than normal,which we believed to be related to persistent red cell destruction by the invading parasite Leishmania donovani. Conclusion VL,a parasitic disease caused by Leishmania donovani, which is currently endemic just in 6 provinces in China, shares similar clinical picture of HLH and is an easily ignored underlying cause of secondary HLH.We suggest that VL should be in the list of differential diagnosis for any patients with HLH who lives in or has a definite travel history to endemic areas.Repeated bone marrow studies are highly warranted to make a definite diagnosis of VL, because bone marrow aspirate or rk39 dipstick test during early disease course might yield negative results.Although VL-HLH responds quite well to HLH-tailored chemotherapy,specific therapy against VL must be given to prevent disease recurrence, and HLH-targeted chemotherapy might be discontinued to prevent chemotherapy-related toxicities.     

噬血性淋巴组织细胞增生症20例

目的 探讨噬血性淋巴组织细胞增生症(HLH)的临床特点.方法回顾性分析2009年4月-2010年5月本院血液科收治的20例HLH患儿临床表现及血常规、肝功能、血液生化、病原学、免疫学检测、血清铁蛋白及骨髓涂片检查等实验室指标,参照HLH-2004治疗方案治疗.结果患儿主要表现为持续发热,肝、脾、淋巴结大,全血细胞减少,肝功能受损,凝血障碍,低纤维蛋白血症,高三酯甘油血症,自然杀伤细胞比例降低.12例中性粒细胞＜1.0×109 L-1,16例Hb<90 g·L-1,18例血小板<100×109 L-1,血细胞二系降低者18例,三系同时降低12例.ALT升高20例,AST升高18例,LDH升高20例,胆碱酯酶升高13例.三酰甘油升高18例,血清铁蛋白＞1 500 μg·L-1 8例,ESR增快9例;CRP增高11例,自然杀伤细胞比例降低12例,骨髓增生活跃17例,增生低下3例,12例骨髓涂片找到噬血细胞.20例发病与感染相关者中,与EB病毒感染相关性噬血细胞综合征3例,巨细胞病毒感染相关4例,铜绿假单胞菌感染1例.治愈3例,好转15例,疗效不佳自动出院2例.结论 HLH临床表现多样,及时诊治可改善预后.     

噬血细胞综合征临床和治疗

目的 了解噬血细胞综合征(HS)的临床特点和治疗。方法 分析14例HS患儿临床表现、实验室检查、治疗及预后。结果 所有患儿有不同程度的肝功能损害，全血细胞减少，凝血功能障碍，低纤维蛋白血症，高甘油三脂血症，高细胞因子血症，铁蛋白增高，细胞免疫功能异常，骨髓片找到噬血细胞。结论 临床高度怀疑噬血细胞综合征应及早干预治疗。     

噬血细胞综合征患儿的临床诊断与骨髓细胞学特点分析

目的探讨儿童噬血细胞综合征的临床诊断标准及其骨髓细胞学检查结果对于临床诊断的意义。方法回顾分析2008年5月-2011年5月于我院确诊为噬血细胞综合征的22例患儿的病历资料及骨髓细胞学特点。结果 22例患儿均符合国际组织细胞协会HLH-2004方案诊断标准。均有发热、脾大及血清铁蛋白增高,18/22例(82%)伴外周血至少两系减低,15/19例(79%)伴低纤维蛋白原血症,14/20例(70%)伴高三酰甘油血症,14/22例(64%)患儿在初诊时骨髓中找到噬血细胞。结论骨髓涂片见到噬血细胞不是儿童噬血细胞综合征临床诊断的必备条件,初诊时进行骨髓细胞学检查有助于噬血细胞综合征的诊断与鉴别诊断,在治疗过程中复查骨髓有助于指导治疗。     

噬血细胞综合征临床和治疗

目的 　了解噬血细胞综合征 (HS)的临床特点和治疗。方法 　分析 1 4例HS患儿临床表现、实验室检查、治疗及预后。结果 　所有患儿有不同程度的肝功能损害 ,全血细胞减少 ,凝血功能障碍 ,低纤维蛋白血症 ,高甘油三脂血症 ,高细胞因子血症 ,铁蛋白增高 ,细胞免疫功能异常 ,骨髓片找到噬血细胞。结论 　临床高度怀疑噬血细胞综合征应及早干预治疗。     

病毒相关性噬血细胞综合征的诊断与治疗

目的　提高对病毒相关性噬血细胞综合征的认识。方法　回顾性分析 1 6例病毒相关性噬血细胞综合征患儿的临床资料。结果　临床表现为持续性高热 ,肝脾大 ,血常规二系或三系减少 ;高三酰甘油血症、血清铁蛋白 (SF)增高 ;纤维蛋白原降低 ,凝血功能障碍 ;CD4/CD8下降 ,非杀伤细胞比例降低 ,高细胞因子血症。骨髓中找到噬血细胞。大剂量人血丙种球蛋白、甲泼尼龙治疗后 ,好转 7例 ,死亡 5例 ,4例放弃治疗。结论　早期诊治是提高病毒相关性噬血细胞综合征患儿生存率的关键。     

儿童噬血细胞综合征32例临床分析

目的 探讨儿童噬血细胞综合征(hemophagocytic syndrome,HPS)的临床表现、病因、诊断及治疗.方法 回顾性分析我科收治的32例HPS患儿的病因、临床症状、体征、实验室检查结果及治疗转归情况.结果 (1)病因:全部病例中病毒感染相关性HPS占75.0％ (24/32),其中以EB病毒感染最为常见,占68.8％ (22/32).(2)临床表现:主要为持续发热,肝、脾及淋巴结肿大.(3)实验室检查特点:外周血常规表现为三系或二系减少,血清铁蛋白明显增高,肝功能受损,三酰甘油升高和(或)纤维蛋白原降低,有凝血障碍.骨髓涂片可找到噬血细胞,可溶性白细胞介素-2受体增高,自然杀伤细胞活性降低.(4)治疗及转归:32例HPS患儿中,24例病毒感染相关性HPS患儿均予抗病毒药物、大剂量人血丙种球蛋白治疗.22例予糖皮质激素、环磷酰胺等治疗,好转11例,完全缓解5例,死亡4例,疗效不佳自动出院2例;另外10例采用HLH-2004方案治疗,好转4例,完全缓解6例.结论 HPS多由感染尤其是EB病毒感染所诱发,血清铁蛋白、可溶性白细胞介素-2受体及自然杀伤细胞活性可早期反映疾病转归,化疗过程中应定期监测.HLH -2004方案是HPS有效的治疗方案.     

严重过敏症诱发的噬血细胞综合征临床分析

目的：对噬血细胞性淋巴组织细胞增生症（ haemophagocytic lymphohistiocytosis,HLH）临床特点及相关基因突变进行研究,推测可能的发病原因。方法3月龄患儿,发热皮疹起病,临床表现符合HLH,进行骨髓细胞学检查,并用聚合酶链反应及Sanger直接测序法对患儿进行HLH相关基因突变检测。结果患儿影像学以急性坏死性脑病为特征性表现,骨髓学检查显示大量噬血组织细胞;HLH相关基因测序发现PRF1基因有1个突变位点,UNC13D基因10个突变位点,STXBP2基因存在8个突变,XIAP基因存在2个突变,诊断继发性噬血细胞综合征,按照HLH-2004方案治疗,病情控制良好。结论患儿以坏死性脑病为特征性表现,严重超敏反应可能是导致噬血细胞综合征的病因之一,早诊断早治疗对于超敏反应引起的噬血细胞综合征及脑损伤预后非常重要。     

HIV阴性儿童马尔尼菲青霉病并发噬血细胞综合征1例及文献复习

目的探讨HIV阴性儿童播散性马尔尼菲青霉菌病(DPSM)并发噬血细胞综合征(HPS)的临床特征。方法回顾性分析1例HIV阴性儿童DPSM并发HPS的病例资料,并复习相关文献,总结其临床特征及诊治经验。结果患儿男,2岁7个月,临床主要表现为发热、咳嗽、面色苍白、肝脾肿大,辅助检查提示全血细胞减少,低纤维蛋白原血症,转氨酶升高,铁蛋白升高,EBV-DNA载量升高,HIV抗体阴性,血液及骨髓培养检出马尔尼菲青霉菌,骨髓涂片可见噬血现象及吞噬孢子,肺部CT提示多发结节、空洞,符合噬血细胞综合征及播散性马尔尼菲青霉病诊断标准;治疗上予HLH-2004方案,同时给予伊曲康唑联合两性霉素B脂质体抗真菌及支持等综合处理,病情一度好转,但反复,最终因呼吸衰竭死亡。结论 HIV阴性儿童DPSM并发HPS,临床上少见且表现缺乏特异性,病情进展快,预后差;早期诊断,早期治疗,可能改善预后。     

Allergic factors associated with the development of asthma and the influence of cetirizine in a double-blind, randomised, placebo-controlled trial: First results of ETA®

There is a common progression known as the allergic march from atopic dermatitis to allergic asthma. Cetirizine has several antiallergic properties that suggest a potential effect on the development of airway inflammation and asthma in infants with atopic dermatitis. Methods. Over a two year period, 817 infants aged one to two years who suffered from atopic dermatitis and with a history of atopic disease in a parent or sibling were included in the ETAC^® (Early Treatment of the Atopic Child) trial, a multi-country, double-blind, randomised, placebo-controlled trial. The infants were treated for 18 months with either cetirizine (0.25mg/ kg b.i.d.) or placebo. The number of infants who developed asthma was compared between the two groups. Clinical and biological assessments including analysis of total and specific IgE antibodies were performed. Results. In the placebo group, the relative risk (RR) for developing asthma was elevated in patients with a raised level of total IgE (≥ 30 kU/I) or specific IgE (≥ 0.35 kUA/I) for grass pollen, house dust mite or cat dander (RR between 1.4 and 1.7). Compared to placebo, cetirizine significantly reduced the incidence of asthma for patients sensitised to grass pollen (RR = 0.5) or to house dust mite (RR = 0.6). However, in the population that included all infants with normal and elevated total or specific IgE (intention-to-treat - ITT), there was no difference between the numbers of infants developing asthma while receiving cetirizine or placebo. The adverse events profile was similar in the two treatment groups. Discussion. Raised total IgE level and raised specific IgE levels to grass pollen, house dust mite or cat dander were predictive of subsequent asthma. Cetirizine halved the number of patients developing asthma in the subgroups sensitised to grass pollen or house dust mite (i.e. 20% of the study population). In view of the proven safety of the drug, we propose this treatment as a primary pharmacological intervention strategy to prevent the development of asthma in specifically sensitised infants with atopic dermatitis.     

Resurgence of measles in Singapore: profile of hospital cases

OBJECTIVE: To ascertain the profile of cases of measles seen at a general hospital during a recent outbreak that occurred despite a measles vaccination program. METHODOLOGY: A retrospective study from January 1991 to March 1998. All patients with measles (ICD code 055. 9) seen at the emergency unit or as inpatients were included. RESULTS: There were 87 cases identified. The diagnosis was clinical in all and proven serologically in 71%. Eighty-five per cent of the cases occurred between January 1997 and March 1998. There was a bi-modal age distribution with peaks in the very young (相似文献   

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孤独症谱系障碍(autistic-spectrum disorders,ASDs)近年来患病率逐年攀升至1%左右,其症状往往伴随终生,成为严重威胁儿童健康和发展的神经发育性疾患;注意缺陷多动障碍(attention deficit hyperactivity disorder,ADHD)是儿童期最常见的精神障碍,国内报道患病率为4.13%～5.83%,其症状可延续至青少年期,甚至到成年期[1]。这两类精神障碍在成年期的临床表现、共患病、治疗策略和预后与儿童期有哪些不同呢?本文通过回顾相     

EXCITING NEW TREATMENT APPROACHES FOR PATHYPHYSIOLOGIC MECHANISMS OF SICKLE CELL DISEASE

During the past several decades, our understanding of the complex pathophysiology of vasoocclusion associated with sickle cell disease has improved greatly. Interaction of genes, hemoglobin molecules, red cell membrane and metabolic changes, cell-cell interactions and cell-plasma interactions, red cell adhesion to vascular endothelium, activation of coagulation, and vascular reactivity play a role in vaso occlusion. Penicillin prophylaxis of pneumococcal infections and appropriate use of blood transfusions and other supportive measures improved survival of sickle cell patients. Hydroxyurea made a major impact on sickle cell therapy when it was shown to decrease acute painful episodes, acute chest syndrome, and the need for blood transfusion in adults. Significant experience in the use of hydroxyurea has been accumulated in older children. The benefits and risks of hydroxyurea for younger children and long-term risks in all patients will be evaluated in future investigations. Other promising therapies include butyrate compounds, clotrimazole, magnesium supplementation, poloxamer 188, antiadhesion agents, anticoagulant approaches, and nitric oxide. Hemopoietic transplantation remains the only curative therapy. However, several transgenic mouse models are available for studies of gene therapy or other treatment approaches on biochemical, cellular, and pathologic effects of mutant genes.     

Infiltrations of Epstein-Barr virus-carrying cells in granular lymphocyte-proliferative disorders corresponding to chronic active Epstein-Barr virus infection

A 21-year-old man with granular lymphocyte-proliferative disorders (GLPD) associated with chronic active Epstein-Barr virus (EBV) infection is described. Chromosomal analyses revealed several clonal abnormalities and two of them were mainly repetitious. High copy numbers of monoclonal EBV genome were also detected in the proliferative large granular lymphocytes (LGLs), indicating the monoclonal expansion of EBV-infected LGLs. The patient had an indolent course for several years, and there was no evidence of infiltrations of his bone marrow until the end stage. At autopsy, microscopic studies revealed marked infiltrations of LGL in the liver and spleen, and the infiltrating cells were NK-cell immunophenotype. The infiltrated LGLs showed latency I.     

LUTEINIZING HORMONE RECEPTOR MUTATIONS IN DISORDERS OF SEXUAL DEVELOPMENT AND CANCER

Human male sexual development is regulated by chorionic gonadotropin (CG) and luteinizing hormone (LH). Aberrant sexual development caused by both activating and inactivating mutations of the human luteinizing hormone receptor (LHR) have been described. All known activating mutations of the LHR are missense mutations caused by single base substitution. The most common activating mutation is the replacement of Asp-578 by Gly due to the substitution of A by G at nucleotide position 1733. All activating mutations are present in exon 11 which encodes the transmembrane domain of the receptor. Constitutive activity of the LHR causes LH releasing hormone-independent precocious puberty in boys and the autosomal dominant disorder familial male-limited precocious puberty (FMPP). Both germline and somatic activating mutations of the LHR have been found in patients with testicular tumors. Activating mutations have no effect on females. The molecular genetics of the inactivating mutations of the LHR are more variable and include single base substitution, partial gene deletion, and insertion. These mutations are not localized and are present in both the extracellular and transmembrane domain of the receptor. Inactivation of the LHR gives rise to the autosomal recessive disorder Leydig cell hypoplasia (LCH) and male hypogonadism or male pseudohermaphroditism. Severity of the clinical phenotype in LCH patients correlates with the amount of residual activity of the mutated receptor. Females are less affected by inactivating mutation of the LHR. Symptoms caused by homozygous inactivating mutation of the LHR include polycystic ovaries and primary amenorrhea.     

A profile of respiratory symptoms in urban and rural South Australian school children

This report describes the cross-sectional analyses of data from the first year of a longitudinal study using questionnaire and respiratory function data over a 5 year period from a sample of rural South Australian school children. The cumulative or lifetime prevalences of respiratory symptoms were estimated in 825 rural and 1261 urban school children aged between 5 and 15 years in order to determine if the prevalence rates differed between rural and urban school children. The study found the overall cumulative prevalence of asthma and/or wheezy breathing (AWB) to be 24.1% in the rural school children compared to 27.6% in the urban school children. Most children developed AWB symptoms before the age of 7 years, with 20% reporting moderately severe symptoms and 10% having more than one attack per fortnight. The cumulative prevalence of bronchitis, loose/rattly cough (BLRC) differed significantly between the rural school children (34.1%) and urban school children (47.9%). The BLRC symptoms preceded the development of AWB in many cases. Urban school children also reported a higher prevalence of atopic conditions.     

Personality profiles and heart rate variability (vagal tone) in children with recurrent abdominal pain

The aim of the study was to explore psychological factors and autonomic activity in children with recurrent abdominal pain and to compare them with those in a control group of healthy children. The Personality Inventory for Children was used for assessment of developmental, emotional and psychosocial factors in 25 children with recurrent abdominal pain (age, 7-15 y). Parasympathetic and sympathetic functions in these children and in 23 healthy control subjects (age, 7-13 y) were also investigated, non-invasively using a computerized polygraph. Vagal tone (parasympathetic function) was indexed by calculation of respiratory sinus arrhythmia in beats/min. Skin conductance (sympathetic function) was recorded by the constant current method. On the Personality Inventory for Children, 16 patients had high scores on somatic concern. Several patients had scores in the clinical range for depression, withdrawal and anxiety, but the mean scores for these personality profile scales were well within the normal range of healthy children. Interestingly, there was a spike on the L (Lie)-scale for most of the patients and 15 patients had scores above or close to the clinical cut-off value. As compared with the scores in healthy children, vagal tone and sympathetic tone were normal. Conclusion: Many children with recurrent abdominal pain have scores in the clinical range for depression, withdrawal, anxiety and L-scale indicating coping problems, denial and a trend towards somatic concern that may contribute to the evolution of abdominal pain. Autonomic nerve activity was not disturbed in these children.     

Hauttemperaturen verschiedener Körperoberflächenareale des Rumpfes bei Säuglingen

Summary In two groups of infants (3–53 weeks old) skin temperatures were controlled in different areas of the trunk—i.e.: regions of sternum, lungs, heart, liver, spleen, kidneys—at different room-temperatures (group I: 21–25°C; group II: 29–32°C). Rectal temperatures of some probands in both groups also had been controlled simultaneously. A definite change in the reaction to heat was proofed in different periods of the first year of life. In higher environmental temperatures the skin temperature was almost constant at every controll-point of the skin, even in older infants. In lower environmental temperatures the skin temperatures lowered continuously with age till 7. to 9. moth. From 10. to 12. month the lowering of skin temperature discontinued. The rectal temperatures were relatively constant in all infants. Only in infants from 7. to 12. month, whose skin temperatures were controlled in lower as well as in higher environmental temperatures, a tendency to higher rectal temperatures was proofed in warmer environmental temperatures.The significance of these results is discussed.

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Untersuchungen mit Unterstützung durch die Deutsche Forschungsgemeinschaft.