伴低分子量蛋白尿的高钙尿症

高钙尿症受到国内儿科临床工作者的重视已逾１０年［１］,对常伴血尿的特发性高钙尿症（ＩＨ）的诊断、临床表现及治疗已有不少报告,临床工作者已将ＩＨ列为非肾小球性血尿的重要原因之一。随着临床医学及有关基础医学的发展,近年注意到一组伴低分子量蛋白尿的高钙尿症...     

溶血危象的实验室检查

溶血危象为儿科的一种危重症,常骤然起病,迅速恶化,如处理不当则病情加剧,甚至引起病人死亡。溶血危象在临床上常被误诊、误治。因此尽早、尽快准确地诊断溶血危象显得非常重要。 在我院溶血危象的原发病主要是自身免疫性溶血性贫血和遗传性球形细胞增多症。下面有关实验室检查主要针对此两种疾病。     

青少年甲状旁腺瘤、甲状旁腺危象和急性胰腺炎

致命性的原发性甲状旁腺机能亢进早在1923年就报导了第1例。此后,这样的病例称为急性甲状旁腺中毒、甲状旁腺危象、急性甲状旁腺机能亢进、甲状旁腺激素中毒、钙中毒等。Payne等在一篇甲状旁腺机能亢进危象的论文中认为病人具有以下特征:血清钙增加大于15毫克肠;胃肠道、心血管或中枢神经系统进行性失调;血尿素氮浓度升高或有其他肾功衰竭的证据。著者复习了甲状旁腺危象的94例中只有4例儿童,其中3例因甲状旁腺瘤引起的甲状旁腺危象。第4例病儿因误用大剂量甲状旁腺激素静脉注射6天,当发现后即停止治疗,以后自     

小儿溶血危象临床诊断要点探讨

目的 总结"溶血危象"的相关特征,探讨溶血危象的诊断要点.方法 对1999年3月至2006年3月入住深圳市人民医院儿科的83例AHA患儿临床资料进行回顾分析,根据以往有关溶血危象的概念中所涉及的各种表现在不同程度AHA的发生情况,对相关实验室检查结果进行评价.结果 乏力、苍白、气促、呕吐、酱油色尿、心脏Ⅲ级以上收缩期吹风样杂音及肾功能异常等表现主要见于Hb≤70g/L的患儿,并随溶血程度加重而增多;WBC、BUN和LDH升高也以Hb≤70g/L的患儿改变较为明显,溶血越严重,WBC和LDH升高越明显;血钾、CO2结合力、CPT、网织红细胞计数在不同程度AHA的患儿中差异无显著性意义(P＞0.05).结论 溶血危象的诊断要点(1)确定为AHA.(2)Hb下降至≤70g/L,同时出现面色苍白、呕吐、酱油色尿、气促、心脏Ⅲ级以上收缩期吹风性的杂音和肾功能异常中5种以上的表现时应高度疑诊为溶血危象.(3)如伴有高热、腹痛、血压下降、意识障碍、惊厥、心力衰竭或急性肾功能衰竭表现之一者即可确诊.(4)Hb下降至30g/L以下的极重度AHA,无论患者的表现如何,均可诊断为溶血危象.(5)外周血WBC≥20×109/L和血清LDH≥850U/L有助于溶血危象的诊断.     

重症患儿的血糖管理

危重患儿在很多情况下会出现糖代谢异常, 表现为高血糖或低血糖, 甚至糖代谢危象以及脑水肿等严重并发症。临床上应加强对危重患儿的血糖监测, 将其血糖控制在合理范围内, 及时处理, 减少并发症。该文将从血糖异常的诊断、血糖的监测方法、目标血糖值以及血糖异常的处理方法等方面进行综述, 以期为危重患儿的血糖管理提供参考。     

导致血糖异常的常见遗传代谢病

遗传代谢病的血糖异常主要表现为低血糖,而低血糖危象是儿科重症监护室常见临床危象之一。碳水化合物代谢、氨基酸代谢和脂肪酸代谢异常都会引起低血糖表现。以糖原累积病最为常见。诊断检查中除血糖检查外,还要关注乳酸、血气分析电解质检查、生化等检查,有异常发现可进一步查血和(或)尿标本的串联质谱和气相色谱质谱检查,有诊断提示后还可查基因以确诊。     

肾上腺危象处理

数十年来,肾上腺危象均被模糊描述为一组具有危重表现的综合征。因此导致"肾上腺危象"发生率、病死率、治疗等一系列研究的一致性差,缺乏共识。直至2015年,英国的医师推荐了一个诊断方法,虽然仍不完善,但可令临床医师应用时有所参考。肾上腺功能不全这类疾病都有可能在某些因素的打击下诱发危象。认识到它的凶险,教育好如何识别和处理肾上腺危象至关重要。先天性肾上腺皮质增生是儿童肾上腺危象的主要原发疾病,对其治疗还需要进一步研究。因小剂量疗法和速效制剂自应用以来危象的发生是增加的。目前还缺乏很好的证据。     

先天性代谢病代谢危象的急诊识别与处理

先天性代谢病代谢危象并非罕见,其临床表现常为非特异性,临床医生常倾向于在除外其他常见病后才考虑.未能得到及时治疗者可在数小时至数日内迅速恶化甚至死亡,存活者可遗留严重后遗症.诊断先天性代谢病代谢危象不需广泛了解生物化学代谢途径或每种代谢性疾病.熟悉可提示诊断线索的主要临床表现和初始辅助检查特征最为重要.早期诊断和恰当的治疗常可挽救生命、预防存活者的永久性神经系统后遗症.     

狼疮性呼吸系统危象表现

系统性红斑狼疮(systemic lupus erythematosus,SLE)是一种多发于女性、累及多脏器的自身免疫性结缔组织病,SLE合并呼吸系统病变在儿童起病急、病情重,有潜在的致命性。因此,要认识其复杂性和严重性,特别要注意狼疮性呼吸系统危象表现的发生。狼疮性呼吸系统危象主要指的是:①急性狼疮性肺炎,②狼疮性肺出血。两者发病率虽较低,但病死率高,如能尽早结合临床症状和体征、胸部X线、肺功能与病理改变及时明确诊断,同时给予尽快尽早使用大剂量皮质激素及免疫抑制剂的治疗,可明显提高近期生存率,改善预后。     

肾小管疾病的早期诊断

遗传性肾小管疾病起病隐匿,发病率较低,临床对这类疾病认识往往有所不足,检验手段尚不规范,容易造成漏诊、误诊。遗传性肾小管疾病常见的临床表现主要为低钾血症、高钙尿症、多饮多尿、佝偻病、生长发育落后等,如不及时治疗,一旦出现肾功能受累,可进展至晚期,病损呈不可逆性改变。文章重点介绍部分常见的遗传性肾小管疾病,强调详细询问病史、重视肾小管功能系列的实验室检查以及与高钙尿症相关的肾小管疾病的诊断思路。临床医师需重视肾小管疾病的早期诊断,从而早期干预,改善预后。     

Clinical phenotype associated with variants in TANGO2: A case study

Transport and Golgi organization 2 (TANGO2) disease is a severe inherited disorder that presents with multiple symptoms and a broad spectrum of phenotypes, including metabolic crisis, encephalopathy, cardiac arrhythmia, and hypothyroidism. The clinical picture of a TANGO2 gene biallelic mutation involves encephalopathy and rhabdomyolysis and is marked by cardiac rhythm disorders and neurological regression. The presentation of encephalopathy varies and can range from isolated language delay and cognitive impairment to multiple disabilities and spastic quadriparesis. A TANGO2 gene mutation causes serious illness with a limited life expectancy due to the unpredictable risk of cardiac rhythm disorder and death, particularly during rhabdomyolysis. Clinicians must therefore consider the TANGO2 gene when confronted with rhabdomyolysis in a patient suffering from an early developmental disorder. Currently, managing this disease is purely symptomatic. Here, we report the clinical features of a 10-year-old girl with mutations in the TANGO2 gene. Unique to our case was the lack of elevated creatine kinase during the early acute crises of cardiac failure and multi-organ failure, as well as the lack of any prior mental retardation associated with the aberrant heart rhythm.     

Kardiologische Notf?lle im Kindes- und Jugendalter

Pediatric cardiac emergencies are less frequent than in adults and show specific age-dependent differences. Congenital heart disease diagnosed and treated or not can be found in early childhood, whereas acquired heart disease plays a role after the first year of life. All kinds and causes of myocardial dysfunction and cardiomyopathy occur in older children presenting as heart failure. Cardiac dysrhythmia can also be found in all age groups, being of supraventricular rather than ventricular origin. Coronary problems in childhood are rare in comparison with adulthood but can be a major problem in Kawasaki disease. Specific symptoms, such as cyanosis are infrequent so it is very important to rule out or diagnose a cardiac cause in an unclear emergency situation. Profound knowledge of pediatric cardiac disease is essential for emergency staff to diagnose and manage these situations in the best way possible.     

Myocardiopathy in Duchenne progressive muscular dystrophy.

In a retrospective study of hospital and autopsy records of 19 male subjects with the Duchenne type of progressive muscular dystrophy the incidence of cardiac involvement of the heart almost invariably develop heart failure; an early sign may be persistent tachycardia and, possibly, electrocardiographic changes, in case of which institution of digitalis treatment should be considered. Cardiac and pulmonary complications were equally frequent causes of death (42%) but, death from cardiac complication occurred only patients with Duchenne progressive muscular dystrophy very often develop cardiac complications, and when relating the available information on treatment to the autopsy findings it should be stressed that early and intensive therapy of the cardiac symptoms is of the greatest importance to the patient.     

MYOCARDIOPATHY IN DUCHENNE PROGRESSIVE MUSCULAR DYSTROPHY

Abstract. In a retrospective study of hospital and autopsy records of 19 male subjects with the Duchenne type of progressive muscular dystrophy the incidence of cardiac involvement was found to be 84%. Patients with dystrophic involvement of the heart almost invariably develop heart failure; an early sign may be persistent tachycardia and, possibly, electrocardiographic changes, in case of which institution of digitalis treatment should be considered. Cardiac and pulmonary complications were equally frequent causes of death (42%) but, death from cardiac complication occurred only among the patients with dystrophic involvement of the myocardium. It is concluded that patients with Duchenne progressive muscular dystrophy very often develop cardiac complications, and when relating the available information on treatment to the autopsy findings it should be stressed that early and intensive therapy of the cardiac symptoms is of the greatest importance to the patient.     

Cardiovascular adaptation to extra uterine life

The adaptation to extra-uterine life is of interest because of its complexity and the ability to cause significant health concerns. In this article we describe the normal changes that occur and the commoner abnormalities that are due to failure of normal development and the effect of congenital cardiac disease. Abnormal development may occur as a result of problems with the mother, or with the fetus before birth. After birth it is essential to determine whether there is an underlying abnormality of the fetal pulmonary or cardiac development and to determine the best course of management of pulmonary hypertension or congenital cardiac disease. Causes of under development, mal-development and mal-adaptation are described as are the causes of critical congenital heart disease. The methods of diagnosis and management are described to allow the neonatologist to successfully manage such newborns.     

Cardiogenic shock in the neonate

Summary The neonate with circulatory failure and cardiogenic shock is a difficult management problem. However, the initial approach is that of resuscitation with exact diagnosis of secondary concern. Once the infant has been stabilized and septic and hypovolemic shock have been excluded, attention should be directed to the four most likely causes of cardiogenic shock: structural heart disease with left heart obstruction being the most common, cardiac muscle disorders, cardiac dysrhythmias, and cardiac metabolic disorders.     

Clinical practice

Current evidence suggests that almost half of all children with cardiomyopathy and symptomatic heart failure will die or require a cardiac transplant within 5 years of diagnosis. The recognition, diagnostic assessment, and treatment of heart failure in children are therefore challenging undertakings, to say the least. It involves an assessment of cardiac appearance and function, adaptation of the child as a whole, and a diagnostic approach that evaluates many possible root causes. This review is intended to assist the practicing pediatrician and cardiologist by providing a framework for this diagnostic assessment and to give an overview of the treatment options available for children with heart failure. In this first part, we will focus on clinical evaluation, diagnostic testing, and initial medical management. In the second part of this series, the maintenance treatment and treatment options applicable when medical treatment is insufficient will be addressed.     

肾上腺皮质功能不全与代谢危象及猝死

肾上腺皮质功能不全是一类由原发或继发因素引起的肾上腺皮质激素分泌不足的疾病。由于其临床表现缺乏特异性,不易早期识别,可导致诊断延迟,若治疗不及时会引发肾上腺危象甚至发生猝死。由肾上腺皮质功能不全引起的患儿猝死可能与肾上腺危象导致的高钾血症直接相关。胃肠疾病及感染等是肾上腺危象的常见诱因。尽管其是一种可治疗的疾病,但若未进行适当的预防或延误治疗往往导致不必要的死亡。因此,需要制定更多措施来预防肾上腺危象,并确保在危象发生后采取恰当的急救方案,以减少猝死。     

Sudden death in congenital heart disease

Sudden cardiac death is a common mechanism of demise in association with congenital cardiac abnormalities. The varied mechanisms may include failure of the transitional circulation, arrhythmias, postoperative or perioperative complications in the neonate and coronary ischaemia, arrhythmias, sepsis, thrombosis, or pulmonary hypertensive crisis in the older child. Knowledge of the natural history of unoperated and operated forms of congenital heart disease and long term follow up with the detection and treatment of underlying hemodynamic abnormalities should improve outcomes. There are few patients with congenital cardiac anomalies that are cured and most require long term care.     

Myasthenia gravis: myasthenia vs. cholinergic crisis

A serious complication of myasthenia gravis is respiratory failure. This may be secondary to an exacerbation of myasthenia (myasthenia crisis) or to treatment with excess doses of a cholinesterase inhibitor (cholinergic crisis). Managing respiratory failure and differentiating a myasthenia from a cholinergic crisis is reviewed. Due to the unpredictable development of respiratory failure, hospitalization is recommended for most patients with exacerbations or complications of myasthenia gravis.