2016年 · 第54卷第04期

Syncope is a common emergency in childhood, with 20% to 30% of school-age to adolescent children experiencing at least one syncope^[1]。 Syncope endangers children's physical and mental health and even the risk of latent sudden death; It also causes a burden on families and society. Therefore, it is of great significance to further standardize the diagnosis and treatment of syncope in children, families and society. Systematic research on syncope in children in China has been continuing for nearly 20 years, and a series of achievements have been made in its diagnosis and treatment, which have been affirmed by peers at home and abroad. The mechanism of syncope is complex, and the clinical manifestations and treatment responses of children are diversified and heterogeneous. Therefore, on the basis of the gradual improvement of common diagnosis and treatment strategies, the clinical research in recent years has gradually reflected the trend of "individualization". In essence, individualized diagnosis and treatment is to make accurate and targeted diagnosis and treatment plans for children as much as possible. This medical concept of "tailoring clothes" for children has been paid attention to and practiced in the research of syncope in children in China, and needs to be continuously developed.

Since US President Barack Obama put forward the "precision medicine initiative" in his State of the Union address in 2015, precision medicine has become the most concerned and hotly discussed concept of the times in the medical field. The program is dedicated to curing diseases such as cancer and diabetes, with the aim of accelerating the precise understanding and targeted treatment of diseases at the genomic level. Precision medicine is a new medical diagnosis and treatment model developed by the cross-application of genomics, proteology, bioinformatics and big data science based on individualized medicine. Now, the practice and research status of precision medicine in some children's cardiovascular diseases and the future development model are reflected as follows.

Syncope is a common emergency in childhood, accounting for 1% to 2% of emergency department^[1]。 Domestic data show that 20% ~30% of children aged 5~18 years have experienced at least one syncope^[2]The incidence of girls is higher than that of boys. Epidemiological data showed that the two age peaks of syncope were adolescents and old age after 60 years of age^[3,4]。 The pathogenesis, etiology and diagnosis of syncope in childhood are not completely consistent with those in adults. Recurrent syncope attacks seriously affect children's physical and mental health, learning and quality of life^[5]Some children are at risk of sudden death, so the diagnosis of syncope is an important topic in the field of pediatrics. The Cardiovascular Division of Pediatrics Branch of Chinese Medical Association and the Editorial Board of Chinese Journal of Pediatrics published "Diagnostic Guidelines for Syncope in Children" in 2009^[6](hereinafter referred to as "2009 edition of the guidelines"), the diagnosis process of syncope in children in China has been standardized, and the efficiency of diagnosis and treatment has been significantly improved. In recent years, the clinical research level of syncope in children in China has been continuously improved, and significant progress has been made in the pathogenesis, diagnostic process and diagnostic criteria. Some multi-center and large-sample studies have provided more accurate data. Therefore, the Guidelines for the Diagnosis of Syncope in Children (2016 Revision) are revised based on the "2009 Guidelines" and combined with the latest advances in this field, with a view to better guiding the clinical diagnosis of syncope in children.

Syncope is a manifestation of transient cerebral insufficiency caused by various reasons, loss of consciousness and loss of muscle tone of the patient, inability to maintain normal body posture and fall to the ground, generally returning to normal quickly without leaving sequelae. The "Guidelines for Diagnosis of Syncope in Children" issued by the Cardiovascular Division of Pediatrics Branch of Chinese Medical Association and the Editorial Board of Chinese Journal of Pediatrics in 2009 (hereinafter referred to as the "2009 Guidelines")^[1]It has played a very good role in promoting and standardizing the clinical diagnosis and treatment of syncope in children in China. In recent years, great progress has been made in the research of children's syncope at home and abroad, in order to further standardize the diagnostic procedure of children's syncope in China, and improve the value of health economics and clinical level of children's syncope diagnosis in China^[2]The Cardiovascular Group of Pediatrics Branch of Chinese Medical Association, the Editorial Committee of Chinese Journal of Pediatrics, the Cardiovascular Group of Pediatrics Branch of Beijing Medical Association and the Professional Committee of Pediatric Syncope of Chinese Medical Doctors Association jointly revised the "2009 Edition Guidelines" and formulated the "Diagnostic Guidelines for Pediatric Syncope (2016 Revised Edition)" (referred to as the "2016 Edition Guidelines")^[3]。 The "2016 Guidelines" mainly add the etiological classification of syncope in children, the identification of syncope history, the indications and contraindications of upright test and upright tilt test (HUTT), update the diagnostic criteria of orthostatic tachycardia syndrome (POTS) in children, and add the concept of orthostatic hypertension (OHT) in children, a new hemodynamic type of autonomic nerve-mediated syncope (NMS), and its clinical diagnostic criteria.

Female, recalled for "increased galactose (including galactose and galactose 1-phosphate) found in newborn screening". galactosemia (GAL) was screened by heel blood sampling on the 3rd day of birth. The blood galactose concentration was 122 mg/L (normal<100 mg/L), no complaint of discomfort at the time of recall for re-examination 7 days after birth; Galactose 215 mg/L, physical examination normal; Blood biochemical detection showed that glutamyl transpeptidase 61 U/L (normal 5-50 U/L) and total bile acid 17 μ mol/L (normal 0-12 μ mol/L) were slightly increased; Ophthalmic examination and abdominal ultrasound examination showed no abnormalities. The first birth was delivered spontaneously at 38 weeks of gestation, with a birth weight of 3 kg and an Apgar score of 10. After parents' informed consent, peripheral venous blood was drawn and sent to Shenzhen Huada Gene Company for GAL gene detection, and uridine glucose diphosphate 4 epiisomerase (GALE), galactokinase and galactose 1 phosphate uridine transferase (GALT) were sent for detection. It was found that two missense mutation sites in GALE gene were c.505C>T (p.R169W) and c.452G>A (p.G151D) (Figure 1), Sanger verification of parental peripheral venous blood found that the mother carried c.505C>T and the father carried c.452G>A (Figure 1)。 The erythrocyte GALE enzyme activity was detected as 42% of that of the normal control. No abnormalities were observed in the activity of GALT enzyme.

The child was a 10-year-old girl. He was admitted to the hospital due to "periorbital edema for more than 1 week, blurred vision, abnormal urine test for 6 days, dizziness and vomiting for 2 days". More than 1 week before admission, the child developed periorbital edema without obvious trigger, which was obvious in the morning and could be relieved by itself. After 2 days, the edema aggravated, with blurred vision, no eye pain, headache, diplopia and visual field defect. The local hospital examined urine routine to show urine protein (+), and was given "Jinshuibao" orally. The above symptoms did not improve. Two days before admission, he developed dizziness and vomiting, occasionally complaining of chest tightness, unconsciousness, numbness and weakness of limbs, and incontinence. To our hospital, blood test routine: white blood cells 12.4×10⁹/L, neutrophil percentage 0.519, hemoglobin 120 g/L, platelets 150×10⁹/L, C-reactive protein 6.06 mg/L, urine protein (+ +), the effect of symptomatic treatment such as anti-infection and antiemetic was not satisfactory, so he was admitted to hospital.

In recent years, with the improvement of awareness of chronic granulomatous disease (CGD), the number of confirmed cases in large pediatric institutions has gradually increased, and the success rate of treatment and prevention has increased. However, due to the overall lack of full understanding of CGD, most cases are misdiagnosed for a long time, and there are still misunderstandings in treatment and prevention. In view of the characteristics of CGD, which are suggestive for diagnosis, and the particularity of treatment and prevention, the clinical manifestations, diagnosis and treatment of CGD are summarized as follows.

Severe myocarditis in children is a critical type of viral myocarditis, with a sudden onset, rapid progression and diverse early clinical manifestations. Heart failure, cardiogenic shock or fatal arrhythmia can quickly occur. In the past, due to the lack of effective rescue methods, the mortality rate is extremely high, which is one of the important diseases that lead to children's death. extracorporeal membranous oxygenation (ECMO), or membrane lung, is an important part of extracorporeal life support. It can temporarily replace the treatment of cardiopulmonary failure caused by various causes through extracorporeal blood gas exchange, maintain blood perfusion and oxygen supply to various organs of the body, and can provide long-term life support for patients with severe cardiopulmonary failure. This technology can provide additional cardiopulmonary support for patients with fulminant myocarditis, especially for patients whose cardiac function and organ function continue to deteriorate or fatal malignant arrhythmia after traditional comprehensive treatment such as drugs combined with ventilators, so that cardiopulmonary function can be fully rested, while providing effective tissue perfusion and oxygen supply, and reducing mortality^[1,2,3]。 The application status of ECMO in children with severe myocarditis is summarized as follows.

Ductus arteriosus is developed from the branchial arch of the sixth pair of arteries during embryonic development^[1]。 During the fetal period, pulmonary blood flow flows into the placenta through an arterial duct that connects the main pulmonary artery and the descending aorta^[1,2]。 The functional closure rates of ductus arteriosus at 24, 48 and 72 hours of birth were nearly 50%, 90% and 100%, respectively^[1]About 1/3 of very low birth weight (VLBW) premature infants continued to have open ductus arteriosus^[1,2]About 55% of extremely low birth weight (ELBW) premature infants have symptomatic patent ductus arteriosus (sPDA) or hemodynamically significant patent ductus arteriosus (hsPDA) requiring medical intervention^[2,3]。 Patent ductus arteriosus (PDA) is more likely to lead to pulmonary edema, decreased pulmonary compliance, respiratory failure, heart failure, renal and intestinal ischemia, intraventricular hemorrhage (IVH) or brain injury, chronic lung disease or bronchopulmonary dysplasia (BPD), necrotizing enterocolitis (NEC) and death^[1,2,3]。 It is extremely important to understand the evolution mechanism of PDA in premature infants and to intervene appropriately. Recent studies have found that platelets play an important role in the closure of ductus arteriosus^[3]。

The Global asthma Initiative (GINA) defines cough variant asthma (CVA) as a special type of asthma without wheezing, shortness of breath and other symptoms, but cough is the only or main symptom^[1]。 The main clinical manifestations of CVA are recurrent or persistent cough with a course of>4 weeks, cough occurs more often at night or in the early morning, dry cough is more common, induced or aggravated after exercise, no other respiratory tract infection manifestations, and standard antibacterial treatment is ineffective. Bronchodilators can relieve cough symptoms, and there is often a personal or family history of atopic disease^[2]。 CVA is a common cause of chronic cough in children, and it has been reported that 30% of children with CVA will convert to classic asthma^[3]Some advances in the epidemiology, pathogenesis, diagnosis and treatment of pediatric CVA are summarized below.

The 20th National Pediatrics Academic Conference of Chinese Medical Association was held in Xiamen, Fujian Province from September 23-26, 2015. At the request of the Pediatrics Branch of Chinese Medical Association, the 17th National Pediatric Nephrology Academic Conference in 2015 was merged into the kidney special session of the 20th National Pediatric Academic Conference of Chinese Medical Association and held at the same time.

It is difficult for parents to sign informed consent in pediatric clinical studies. To improve parents' compliance with signing informed consent forms, we can start with ethical defense and writing skills of informed consent forms, handle the benefits and risks of children well, and write the information clearly.