急性纤维蛋白性喉气管支气管炎也称急性假膜性坏死性喉气管支气管炎，好发于幼儿，属急性喉气管支气管炎的一种类型，发病率不高，但发展迅速，多表现为内源性气道堵塞，如果诊治不及时，病死率极高 [1,2,3]。噬血细胞综合征亦称噬血细胞性淋巴细胞综合征或噬血细胞性网状细胞增多症，是一种进行性加重伴免疫功能紊乱的巨噬细胞增生性疾病 [4,5]，目前尚无有关两病相关性报道。现将我院收治的1例噬血细胞综合征并发急性纤维蛋白性喉气管支气管炎病例报道如下。
目的:介绍体外膜肺氧合(ECMO)转运危重症肺动脉瓣狭窄患儿联合应用经皮球囊扩张治疗的诊治经过，为该类患儿的诊治提供经验。方法:回顾性分析湖南省儿童医院ECMO辅助下转运1例危重症肺动脉瓣狭窄合并心肺功能衰竭患儿的救治过程，并复习相关文献。结果:患儿，男，2个月，出生后心脏彩超即确诊肺动脉瓣狭窄、动脉导管未闭，短时间内急剧进展，出现气促、发绀，当地医院给予气管插管机械通气、血管活性药物维持等治疗仍难以维持心肺功能，符合ECMO适应证，由我院ECMO团队实施ECMO辅助治疗并转诊至我院PICU，于入院第3天联合心血管内科予经皮肺动脉球囊扩张术，术中血流动力学稳定，术后心功能好转，于入院第7天成功撤离ECMO，并予颈动脉修补术，转心血管内科过渡后好转出院。结论:ECMO可为危重症肺动脉瓣狭窄患儿提供稳定的心肺功能支持，为心脏手术创造条件，赢得手术时机，由专业的ECMO团队组织并实施院间转诊是安全可行的。
Vasovagal syncope (VVS) and postural orthostatic tachycardia syndrome (POTS) are the most common types of neurally mediated syncope, which is prevalent in school-age children and adolescents, seriously affecting their daily life and learning quality, and increasing the risk of accidental injury due to syncope.Because the clinical signs of these two diseases are very similar, diagnosis between VVS and POTS can easily be confused, and the pathogenesis of these two is not the same, the curative effect of empirical treatment is not very ideal.Therefore, finding a sensitive and reliable method for differential diagnosis and formulating individualized treatment plans have become an urgent clinical need in pediatrics syncope.In recent years, pediatricians utilizing biomarkers for study on differentiating VVS from POTS and predicting individualized treatment outcomes have made significant progress, thus promoting the precise treatment of syncope in children.
Orthostatic hypertension (OHT) is a common type of syncope in children, characterized by a highly complex neural reflex mechanism.It is closely associated with abnormalities in vascular endothelial function, disruptions in the renin-angiotensin-aldosterone system, and reduced or deficient levels of vitamin D. However, the exact pathogenesis of OHT remains unclear.OHT has a relatively high incidence and may be a risk factor for hypertension and cardiovascular diseases in children, significantly impacting their physical and mental health.Nevertheless, the etiology and treatment of OHT are still in the exploratory stage.Therefore, a thorough exploration of OHT is essential.This review provided a brief overview of the pathogenesis and clinical diagnosis and treatment of OHT.
Objective:To analyze the clinical features and follow-up of children with cardiogenic syncope (CS), and accurately and efficiently guide clinical diagnosis as well as improve the prognosis of children with CS.Methods:Ninety-eight children with CS who were hospitalized in the Department of Cardiology, Beijing Children′s Hospital Affiliated to Capital Medical University from April 1, 2016 to June 31, 2023 were selected as the study objects.According to the etiology type, the children with CS were divided into arrhythmia group, organic cardiovascular disease group and mixed group.The causes of syncope episodes, type of aura, frequency of syncope at first diagnosis, duration of loss of consciousness, concomitant symptoms, past history, family history, physical examination and follow-up were collected and statistically analyzed in each group.Results:A total of 98 children with CS were included, including 59 males and 39 females.The age of first onset was (8.69±3.90) years old.There were 60 cases in arrhythmia group, 18 cases in organic cardiovascular disease group and 20 cases in mixed group.There were no statistically significant differences among three groups of children in whether had inducement, whether had aura, incidence of aura types, duration of loss of consciousness, incidence of urinary and fecal incontinence and associated symptoms of fall injury, incidence of liver macrosis, and recurrence of syncope during follow-up.The children in arrhythmia group were more likely to induce syncope due to intense exercise than those in mixed group ( χ2=9.785, P<0.05). Compared with the organic cardiovascular disease group and the mixed group, the number of syncope attacks in the arrhythmia group was more than five times at the first diagnosis ( P=0.020). Compared with the organic cardiovascular disease group, the children in mixed group and arrhythmia group were more likely to have accompanying symptoms during syncope( P<0.05), and the incidences of convulsion were the higher in both groups.The positive signs of heart in mixed group were more than those in arrhythmia group and organic cardiovascular disease group( P<0.05). Compared with arrhythmia group, facial cyanosis was more common in mixed group and organic cardiovascular disease group ( P<0.05). Of the 87 children with CS who were followed up regularly, 73 (83.9%) did not have recurrent syncope after timely treatment and regular outpatient medication adjustment. Conclusion:Children with CS have special clinical characteristics, such as syncope is easily induced by strenuous exercise or emotional excitement, syncope is often preceded by no aura of seizure, loss of consciousness lasts for a relatively short period of time, the main accompanying symptom of syncope is convulsions, positive cardiac signs can be seen on physical examination, and there can be cardiac disorders in the past history or sudden death in the family history.It is of great significance to improve the diagnosis and prognosis of children with CS by mastering its characteristics and giving timely and appropriate treatment.
Postural tachycardia syndrome (POTS) is a common disease of the autonomic nervous system in childhood, characterized by sudden changes in posture or prolonged standing with abnormally rapid heart rate and chronic orthostatic intolerance such as headache, chest tightness or pain, fatigue, sighing, amaurosis, or syncope.The diagnostic criteria for POTS in children are different from those in adults, and the standing test and the head-up tilt test are still used as effective diagnostic tools.In recent years, it has been reported that significant progress has been made in the diagnosis of POTS in children, including characteristics of population age, changes of disease circadian rhythm, modify standing test applied in local hospitals, differential diagnosis of POTS by biological markers, etc.Early and rapid diagnosis of POTS in children can help children with timely intervention, which is conducive to the improvement of prognosis and quality of life.
Objective:To investigate the etiology, incidence and clinical characteristics of pediatric prolonged and chronic diarrhea.Methods:The clinical data of children with prolonged and chronic diarrhea were collected and analyzed, which were hospitalized in the Department of Gastroenterology of the Children′s Hospital Affiliated to the Capital Institute of Pediatrics from January 2017 to June 2020.Results:A total of 190 children with prolonged and chronic diarrhea were collected, with a male-to-female ratio of 1.64∶1(118/72) and a median age of 11.2(5.0, 48.0)months.Among them, 74.3%(141/190) were infants aged 0-3 years, and 54.3%(103/190) were infants aged 0-1 years.The overall cure and improvement rate was 83.7%(159/190). Gastrointestinal concomitant symptoms were dominated by abdominal pain, and vomiting, bloating, and extraintestinal concomitant symptoms were mainly fever, weight loss, and growth and development disorders.Common comorbidities included malnutrition (46.3%), anemia (35.3%), and electrolyte abnormalities (20.5%). The lesion detection rate of electronic gastrointestinal endoscopy and capsule endoscopy reached 93.1%(122/131). The detection rate of genetic testing was 60.0%(9/15). In this group of studies, 169 patients had a clear cause, and the confirmed diagnosis rate was 88.9%.The main causes of childhood prolonged and chronic diarrhea were food allergy(36.8%), inflammatory bowel disease(12.6%), and irritable bowel syndrome(9.5%), but 11.1% of the children did not identify the cause after comprehensive examination.Conclusion:Children with prolonged and chronic diarrhea are mainly infants and young children, especially infants, with diverse etiology, mainly non-infectious factors, food allergy and inflammatory bowel disease are important causes.Malnutrition, anemia and other complications are easy to occur.Endoscopy is helpful in diagnosing and differentiating the cause, if necessary, genetic testing could help to determine the cause.
目的:探讨血液净化(连续性肾脏替代治疗和双滤过血浆置换)联合贝利尤单抗治疗儿童系统性红斑狼疮(cSLE)合并严重感染导致多器官功能障碍综合征的诊疗经过，提高对cSLE合并严重感染救治的认识。方法:回顾性分析深圳市儿童医院2021年9月收治的1例cSLE合并严重感染诱导的多器官功能障碍综合征患儿的临床资料及15个月的诊疗随访记录，对其临床表现、影像学检查、实验室检查、治疗及随访结果进行分析，并复习国内外相关文献。结果:患儿，女，14岁，cSLE合并严重脓毒症诱导的多器官功能障碍综合征，除常规激素及抗感染治疗外，立即予连续性肾脏替代治疗(CRRT)联合双滤过血浆置换(DFPP)进行血液净化，患儿右腿软组织感染形成大面积的坏死性焦痂，病程第45天时开始进行清创(先后5种清创术和2次植皮术)。病程50 d时予第1次贝利尤单抗静滴。患儿无尿状态持续60 d，予隔日血液透析，第61天尿量开始慢慢增加，病程第63天尿量为560 mL/d，病程70 d时>1 000 mL/d，水肿消退，肾功能完全恢复正常，抗ds-DNA抗体滴度水平下降、补体C3升高，24 h尿蛋白定量下降。贝利尤单抗用药6次后，患儿SLE疾病活动度评分降至8分，临床症状完全缓解。抗ds-DNA抗体滴度恢复正常。伤口愈合良好，住院130 d顺利出院。现随访1年6个月，贝利尤单抗已静滴13次。患儿自行上学回归校园。结论:应用血液净化CRRT联合DFPP治疗成功救治1例cSLE合并严重感染导致多器官功能障碍综合征患儿，联合贝利尤单抗可迅速显著控制SLE活动度，治疗效果及药物安全性良好。
Cardiogenic syncope in children is common in clinic and is highly regarded because of its high risk of sudden death.The main causes of cardiogenic syncope in children are organic and arrhythmia.In the diagnosis of syncope in children, the clinical characteristics and the primary diagnosis of the etiology of cardiogenic syncope should be emphasized.Holter electrocardiogram and intracardiac electrophysiology are indispensable in arrhythmia syncope.Cardiac ultrasound and cardiac MRI in syncope with structural heart disease is importance.Genetic testing is highly recognized.Different causes of cardiogenic syncope should be treated in different ways.The aim of this review was to improve the ability of the clinician to identify cardiogenic syncope quickly and accurately, so as to improve the treatment of such children.
Objective:To investigate the pathogenic genes, clinical features and treatment as well as follow-up of children with congenital long QT syndrome (LQTS).Methods:The clinical data, genetic test results and follow-up data of 16 congenital LQTS children with syncope as the first manifestation admitted to the Department of Cardiology, Beijing Children′s Hospital Affiliated to Capital Medical University from August 2016 to March 2023 were collected and retrospectively analyzed.Results:Among the 16 LQTS patients, the age of first syncope onset was 1.3-13.3 (7.37±3.41) years, and the interval between first syncope onset and clinical diagnosis was 0-48 (14.8±16.2) months.A total of 13 (81.3%) patients had triggers of syncope, of which nine were exercise-induced and four were emotional induced.Genetic testing was performed in 13 patients with LQTS, of which 12 (92.3%) were found to have pathogenic or suspected pathogenic mutations from KCNQ1, KCNH2, and SCN5A gene.The corrected QT interval of 16 patients was (550.0±50.2) ms, all cases≥460 ms.Schwartz scored 6.0 (5.0, 6.0) points, all cases≥4 points.All patients were initially treated with metoprolol or propranolol, of which 14 patients were followed up to date, three patients had recurrent syncope, and five patients stopped taking the medicines by themselves.One patient with high-dose metoprolol (LQT2) was treated with mexiletine after recurrent episodes.One patient who was intolerant to high-dose propranolol underwent left cardiac sympathectomy and was followed up after surgery without syncope episodes.None of the patients underwent implantable cardioverter defibrillator implantation. Conclusion:Children with LQTS and syncope symptoms have high positive rate of genetic tests.The genetic results could assist typing of patients with LQTS and guide treatment.Routine electrocardiogram screening in children with syncope may diagnose LQTS earlier and reduce misdiagnosis and missed diagnosis.β-blockers are the cornerstone of treatment for patients with LQTS.Strengthening follow-up management and improving patients′ treatment compliance is conducive to further improving the treatment response rate of patients.
目的:探讨婴儿川崎病急性期并发急性心肌梗死引起死亡的临床特征。方法:分析济宁市第一人民医院儿科2021年收治的1例婴儿川崎病急性期并发急性心肌梗死引起死亡的临床及全身尸检资料，并复习相关文献。结果:患儿，男，6个月，因"间断发热2周，眼结膜充血2 d"入院，超声心动图示左右冠状动脉近端分别为3.2 mm和3.1 mm，诊断川崎病；输注大剂量静脉人免疫球蛋白后2 h，患儿出现急剧哭闹、尖叫、呕吐、口唇青紫，其后意识不清，心电图示心肌梗死和严重心律失常，临床抢救无效死亡。尸检示左右冠状动脉及其分支动脉炎伴血栓形成，心肌间质炎症细胞浸润，心肌细胞水肿，部分可见收缩带形成；淋巴结组织广泛增生，局部可见凝固性坏死；肝脏和肾脏组织可见炎症细胞浸润；脑膜血管扩张淤血，脑组织明显水肿。结论:对于存在冠状动脉病变的川崎病婴儿，在急性期治疗期间应常规心电监护，动态观察心电活动，力争早期识别川崎病并发急性心肌梗死。
Postural orthostatic tachycardia syndrome (POTS) is a common condition that results in syncope among children and adolescents.It primarily manifests as a range of chronic orthostatic intolerance symptoms, accompanied by an abnormal increase in heart rate upon standing, significantly impacting the learning and quality of life in young individuals.POTS demonstrates diversity and heterogeneity in clinical symptoms, underlying pathophysiological mechanisms, and associated complications.Consequently, relying on experience to treatment often fails to achieve desired clinical outcomes.Delving deeper into potential clinical biomarkers capable of predicting POTS treatment efficacy and implementing individualized treatment approaches are crucial for enhancing patient prognosis and quality of life.This review provided a comprehensive exploration of the latest research findings on biomarkers for predicting POTS clinical outcomes, aiming to offer perspectives and approaches for the clinical treatment of pediatric POTS.
Vasovagal syncope (VVS) is the most common cause of syncope in children, accounting for more than 50% of all syncope events.Frequent attacks of VVS often affect children′s normal life and learning, so effective intervention is needed to prevent the onset of syncope.Selection of individualized therapeutic protocol to improve efficacy and reduce recurrence rate is a hotspot in current research.Currently, the treatment has gradually shifted from empirical treatment to individualized precision therapy based on hemodynamics mechanism and therapeutic efficacy biomarkers.This review summarized the progress of VVS treatment from three aspects: non-drug therapy, drug therapy and interventional therapy, in order to promote the further study of the treatment strategy for children with VVS.
Objective:To investigate the clinical significance and possible mechanisms of elevated homocysteine(Hcy) levels in peripheral blood of children with sepsis.Methods:The clinical data of 51 children with sepsis (sepsis group) admitted to PICU at Xuzhou Children′s Hospital from January 2019 to December 2019 were analyzed, and the levels of Hcy in plasma were compared with 50 non-septic children (common infection group) and 50 healthy children (healthy control group) during the same period.The possible mechanism of metabolic disorders about Hcy was analyzed by detecting the levels of the key rate-limiting enzymes cystathionine-β-synthase(CBS) and cystathionine-γ-lyase(CSE), which were in the downstream of metabolism in septic mouse model induced by lipopolysaccharide.Results:The level of Hcy in plasma was (12.62±5.46)μmol/L in sepsis group, which was significantly higher than those in common infection group[(9.42±2.28) μmol/L] and healthy control group[(8.14±1.60) μmol/L]( P<0.05). The level of Hcy in plasma of 12 children with acute kidney injury in sepsis group was significantly higher than that of 39 children without acute kidney injury in sepsis group[(16.48±5.87)μmol/L vs.(11.62±4.74) μmol/L, P<0.05]. The level of Hcy in plasma of six children with acute liver failure in sepsis group was significant higher than that of 45 children without acute liver failure in sepsis group[(18.35±7.10) μmol/L vs.(11.84±4.78) μmol/L, P<0.05]. The level of Hcy in serum significantly increased in septic mouse models ( P<0.01). The transcription and protein expression levels of key rate-limiting Hcy transcription enzymes CBS and CSE in liver and kidney tissues of septic mouse were significantly down-regulated ( P<0.05). Conclusion:The level of Hcy in peripheral blood of children with sepsis increases, which is more obviously in children with acute kidney injury or acute liver injury.When patients developed sepsis, the expression of CBS and CSE will be restrained, leading to disorders related to transsulfuration metabolism and elevated level of Hcy in peripheral blood.
目的:探讨幼年皮肌炎合并巨噬细胞活化综合征患儿的临床特点、治疗及预后。方法:回顾性分析2020年6月至2022年12月于青岛大学附属青岛妇女儿童医院肾脏免疫科住院治疗的3例幼年皮肌炎合并巨噬细胞活化综合征患儿的临床资料；以"juvenile dermatomyositis""macrophage activation syndrome""幼年皮肌炎""巨噬细胞活化"为关键词，检索PubMed、中国知网、万方数据库、中国生物医学文献数据库(建库至2022年12月)，并进行文献复习，总结幼年皮肌炎合并巨噬细胞活化综合征的临床诊治特点及预后。结果:3例患儿中，女2例，男1例，年龄分别为2岁、9岁、10岁，首发症状分别为关节痛、肌无力、皮疹，均在疾病早期病情进展时出现巨噬细胞活化表现，2例患儿抗MDA5阳性，1例患儿抗NXP2阳性。3例患儿均有发热、铁蛋白升高、谷草转氨酶升高、三酰甘油升高、纤维蛋白原下降及骨髓见吞噬细胞，2例患儿有血小板下降。给予激素及免疫抑制剂治疗后，2例患儿恢复，1例死亡。共检索到中、英文文献21篇，共报道约23例幼年皮肌炎合并巨噬细胞活化综合征患儿；有详细临床资料者17例，连同本报道3例，总结临床特点：发病年龄为2~17岁，10岁及以上者占75%；13例以皮疹和肌无力起病，3例以面部肿胀起病，2例以关节痛起病，1例以发热、呼吸困难起病，1例起病症状不详；85%的患儿巨噬细胞活化出现在疾病早期；8例检测肌炎抗体，5例MDA5阳性，2例NXP2阳性；20例患儿均应用激素及免疫抑制剂，18例应用甲泼尼龙冲击，16例应用环孢素，15例应用静脉注射人免疫球蛋白，2例应用生物制剂，1例进行血浆置换；17例患儿治疗后实验室检查指标好转，3例(15%)死亡。结论:巨噬细胞活化综合征是幼年皮肌炎罕见且危及生命的并发症，易出现在疾病早期，尤其是抗MDA5阳性患儿，对于有发热、铁蛋白升高、血细胞减少的患儿应积极动态监测转氨酶、血脂、凝血功能等实验室指标，早期识别，积极治疗，改善预后。
目的:探讨1例与 CFTR基因有关的儿童遗传性胰腺炎的临床及遗传学特点。 方法:回顾总结山东第一医科大学附属省立医院收治的1例与 CFTR基因有关的遗传性胰腺炎患儿的临床特点，应用全外显子测序技术对患儿及其父母、姐姐进行基因测序，用生物信息学软件预测其危害性，并通过蛋白质结构模拟分析其影响。 结果:全外显子测序发现与疾病高度相关的 CFTR基因变异。在位点c.3406G>A(p.A1136T)及c.650G>A(p.E217G)患儿、其父亲、姐姐为杂合变异，其母亲无变异；在位点c.3209G>A(p.R1070Q)患儿、其母亲、姐姐为杂合变异，其父亲无变异。蛋白结构预测软件分析，基因突变位点导致了蛋白结构相应位置的氢键及空间构象改变。 结论:对反复发作的胰腺炎，需警惕遗传性胰腺炎的可能，基因测序是可靠的检测方法。
Objective:To investigate the correlation between the levels of serum secreted frizzled-related protein 5 (SFRP5), sputum CXC chemokine receptor 2(CXCR2), chemokine receptor 1 (CCR1) and airway inflammation in children with acute asthma.Methods:A total of 53 cases of acute asthma (acute group), 50 cases of asthma at remission stage (stable group) and 50 cases of healthy children (control group) in our hospital from January 2017 to January 2020 were enrolled.The expression levels of serum SFRP5, CXCR2 and CCR1, as well as pulmonary function indicators (FEV1/FVC, FEV1%), fractional exhaled nitric oxide(FeNO), and airway inflammation-related cytokines[interleukin(IL-13), vascular endothelial growth factor(VEGF)] were detected, respectively.Results:The levels of serum SFRP5 was the lowest in acute group, followed by stable group, which was the highest in control group, with statistic difference ( P<0.05). The mRNA expression levels of CXCR2 and CCR1 were the highest in acute group, followed by stable group, which were the lowest in control group, with statistic difference ( P<0.05). The predicted values of FEV1/FVC and FEV1% in acute group were significantly lower than those in stable group and control group, while FeNO in acute group was significantly higher than those in stable group and control group ( P<0.05). The predicted values of FEV1/FVC and FEV1% in stable group were significantly lower than those in control group, and FeNO was significantly higher than that in control group( P<0.05). The values of FEV1/FVC and FEV1% were the lowest in acute group, followed by stable group, which were the highest in control group ( P<0.05). The values of serum IL-13 and VEGF were the highest in acute group, followed by stable group, which were the lowest in control group, with statistic difference( P<0.05). Correlation analysis showed that the level of serum SFRP5 was positively correlated with lung function index FEV1/FVC and FEV1% to the predicted value( P<0.05), and negatively correlated with the levels of inflammatory index IL-13 and FeNO ( P<0.05). The levels of sputum CXCR2 and CCR1 were negatively correlated with lung function index FEV1/FVC and FEV1% to predicted value( P<0.05), and positively correlated with inflammatory index IL-13, VEGF and FeNO( P<0.05). Conclusion:Serum SFPR5 is decreased, and septum mRNA expression levels of CCR1 and CXCR2 are elevated in asthma children, so these three indicators could be used to predict the severity of airway inflammation in asthma children, thus providing reference for clinical diagnosis and treatment.
Healthcare Big Data and its driven real-world study (RWS) have increasingly become important sources of evidence for medical decision-making.Drawing on successful international experiences, China′s neonatal-perinatal field has established national or regional neonatal collaboration networks to conduct various forms of clinical scientific researches, continuously improving the treatment and care level for preterm infants.How to construct a scientific clinical research methodology system based on clinical issues in China′s neonatal field and reliable real-world data is currently a pressing issue that needs to be addressed.This article discussed the methodological exploration for advancing neonatal clinical scientific research through regional collaboration networks.
线粒体脑肌病是由于线粒体的结构和(或)功能发生障碍，导致ATP合成不足，使患者中枢神经系统和骨骼肌同时受累的多系统疾病 [1]，出现临床受累的时间越早，程度越严重。由于本病早期症状主要为乳酸水平升高，易与新生儿败血症、心力衰竭混淆，后逐渐出现肥厚型心肌病和精神运动发育落后的表现，预后不佳。提高对于本病的早期识别能力和及早对疑似患儿进行基因检测是确诊本病并做好优生优育的基础。本研究报道我院收治的1例患儿，以相似症状家族史、新生儿严重乳酸酸中毒、代谢性脑病和肥厚性心肌病治疗效果欠佳为主要特点，基因检测证实存在 COX14部分纯合缺失，且父母高度疑似近亲结合，最终确诊为线粒体复合体Ⅳ缺失所致新生儿线粒体脑肌病。
With the continuous advancement of critical care technologies for newborns in China, the success rate in treating critically ill newborns and premature infants has steadily improved, bridging the gap with neonatal care in Europe and America.Enhancing the treatment and long-term survival quality of NICU newborns has emerged as a prominent concern.Promisingly, comprehensive systems were established among countries and regions such as the United States, Canada, and Europ, aiming to improve neonatal care quality.This article provided an overview of the progress made in quality improvement based on neonatal perinatal collaborative networks, both domestically and internationally.Additionally, it shared valuable insights from clinical research conducted within regional neonatal perinatal collaborative networks, presenting guidelines to enhance the clinical quality of neonatal perinatal care.
