2013年 · 第51卷第08期

Pediatric cardiomyopathy is a heterogeneous group of myocardial lesions in childhood. The annual incidence of cardiomyopathy in children under the age of 18 in the United States is 1.13 per 100,000, a figure similar to that reported from Finland and Australia^[1,2,3,4,5]。 At present, there is no report on the incidence and prevalence of childhood cardiomyopathy in China. Cardiomyopathy is a great threat to children and even human beings. If it is not treated in time, it often leads to death of children due to chronic congestive heart failure that is difficult to reverse.

With the progress of diagnosis and treatment technology, the 5-year long-term survival rate of malignant tumors in childhood after treatment can reach 80%^[1]。 The improvement of clinical therapeutic effect mainly benefits from the application of anti-tumor anthracyclines. Anthracyclines such as daunorubicin, epirubicin and doxorubicin have been widely used in the treatment of childhood leukemia, lymphoma and other malignant tumors. Anthracyclines are included in chemotherapy for nearly 60% of childhood malignancies. The population of long-term survivors of malignant tumors in childhood is gradually expanding, and the impact of survivors' health status, quality of life, especially treatment-related comorbidities on long-term prognosis has been paid attention to. According to the follow-up data, 62.3% of the survivors of childhood malignant tumors had chronic health problems and 27.5% had serious life-threatening problems within 30 years after diagnosis^[2]。 The leading cause of non-tumor-related disability or death in long-term survivors is cardiovascular-related disease. Compared with their compatriots, long-term survivors had a 15-fold increased risk of heart failure, a 10-fold increased risk of coronary artery disease, and an 8-fold increase in death from cardiovascular-related diseases compared with the general population^[3]。 Risk of cardiovascular events is the most common cause of death, second only to secondary malignancies. A large number of data suggest that cardiovascular events in long-term survivors are associated with cardiotoxicity of anthracyclines. While improving the therapeutic effect of childhood malignant tumor, actively preventing and treating chemotherapy-related complications is an important clinical topic.

Kawasaki disease Coronary artery disease refers to inflammatory changes in the coronary arteries^[1]Can lead to anatomical abnormalities, including coronary artery dilatation, coronary aneurysm formation, stenosis or occlusion, etc.; In untreated cases of Kawasaki disease, the incidence of coronary artery dilatation ranged from 18.6% to 26.0% and coronary artery aneurysms from 3.1% to 5.2%. On the other hand, despite the standard therapy of oral aspirin plus intravenous infusion of high-dose gamma globulin in the acute phase of Kawasaki disease, coronary artery disease still occurs in 3.2% to 12.1% of cases^[1,2]。 Only 32% ~50% of coronary aneurysms formed in the acute phase, especially small and medium coronary aneurysms, can resolve within 1~2 years; Thrombotic occlusion can occur soon after the occurrence of medium or giant coronary aneurysms, with an incidence of 16%, most of which occur within 2 years of onset; 5% ~10% of coronary artery disease can develop into ischemic heart disease, which has become the first underlying disease of childhood acquired heart disease in developed countries, and the mortality rate is 0.03% ~1%^[3,4]。 Therefore, it is of great significance to strengthen the diagnosis, treatment and follow-up management of Kawasaki disease coronary artery disease.

In recent years, with a large number of basic research progress on hereditary cardiomyopathy, the role of genetic factors in the pathogenesis of cardiomyopathy has been widely recognized and paid attention to. At present, genetic detection has been gradually applied to clinical auxiliary diagnosis of cardiomyopathy abroad. At present, most pediatricians in China make classified diagnosis of children's cardiomyopathy according to anatomy and pathophysiology, and the understanding of the genetic background of cardiomyopathy and the significance of related gene detection is not popular. Therefore, with reference to the 2011 Expert Consensus on Genetic Testing of Cardiomyopathy published by the American Heart Rhythm Society/European Heart Rhythm Society and the Branch of Cardiovascular Diseases of Chinese Medical Association^[1,2]Combined with the research progress of children's cardiomyopathy at home and abroad, this suggestion is put forward after expert discussion, hoping to actively carry out the research on molecular diagnosis of children's cardiomyopathy in China, accumulate experience, and further improve the diagnosis and treatment level of children's cardiomyopathy in China.

With the rapid progress of perinatal and neonatal intensive care technology, the survival rate of premature infants has improved significantly, but the incidence of neurodevelopmental sequelae is also high, especially cerebral palsy and cognitive impairment, which have attracted great attention.

A male, 8 years old and 4 months old, saw a doctor for "thickening and growth of penis and thickening of voice for 6 months". In the past 6 months, the child's penis has thickened and grown, and his voice has become thicker. At 6 months, his height has increased by 8 cm, his weight has increased by 5 kg, and he has acne, Adam's apple and penile erection. No nocturnal emissions. The child was born in breech position at 39 weeks, with a birth weight of 2.2 kg. There was no history of intrauterine or birth distress, and there was no history of vomiting, diarrhea or dehydration at 2 weeks after birth. The child's growth and development have been lagging behind after birth. Now in the fourth grade of primary school, my academic performance is poor, and it is difficult to communicate with my classmates. Had a left indirect inguinal hernia repair at 3 years and 2 months. Healthy parents, non-consanguineous marriage. Spontaneous abortion of unexplained cause for the first and second births of the mother. The child is the third child and the younger brother of the fourth child, now 3 years old and 2 months old, with no abnormalities in growth, development and external genitalia.

Hemophilia is an X-chromosome-linked recessive genetic disease. The common bleeding sites are joints and muscles, and repeated occurrence is at risk of disability. Severe hemorrhage is intracranial hemorrhage, which can lead to death if not treated in a timely and effective manner. To date, coagulation factor replacement therapy is still an effective method to prevent and treat hemophilia hemorrhage^[1]However, FVIII or FIX inhibitors may be produced after replacement therapy, which is an important reason for the decrease or even ineffectiveness of coagulation factor replacement therapy. With the continuous development of hemophilia prevention and treatment in China, more patients have received correct diagnosis and timely coagulation factor replacement therapy, and the incidence of inhibitors is also increasing. Therefore, a comprehensive and correct understanding of the mechanism of inhibitors and related risk factors is of great significance for reasonably and effectively preventing and treating the production of hemophilia inhibitors and improving the quality of life of hemophilia patients.

Nodding spasm is a rare clinical syndrome that occurs in infancy and is characterized by nystagmus, nodding, and torticollis. It was first reported by Raudnitz in 1897^[1]。 Children mostly see ophthalmology for nystagmus or neurology for nodding, which is literally more easily confused with infantile spasms. Infantile spasticity is age-dependent epilepsyEncephalopathy, while nodding spasms are a non-Sexual, benign, self-limiting, episodic disease, the clinical symptoms of most children will resolve by themselves in preschool. Although clinically rare, nodding spasms have been systematically described by several scholars. In recent years, many scholars have carried out long-term follow-up on its prognosis. This paper reviews the clinical manifestations, etiology, pathogenesis and diagnosis of infant nodding spasm at home and abroad.

The 12th National Academic Conference on Pediatric Endocrine Genetic Metabolic Diseases jointly organized by the Endocrine Genetic Metabolology Group of Pediatrics Branch of Chinese Medical Association and the Editorial Committee of Chinese Journal of Pediatrics was held in Tongli, Wujiang, Jiangsu Province on October 10-13, 2012. The conference was attended by 494 representatives of the pediatric genetic metabolic endocrinology specialty from all over the country. The conference received a total of 184 papers, of which 18 were selected as conference speakers. The conference set up 11 special lectures on the hot issues of pediatric endocrine genetic metabolism at present, and invited Professor Gary Butler and Professor Joseph A. Majzoub of the European Society of Pediatric Endocrinology, Professor Takeyori Saheki and Professor Seiji Yamaguchi of Japan, as well as some domestic experts on pediatric endocrine genetic metabolic diseases to give special reports on the progress of diagnosis and treatment of adolescent development abnormalities, glucose metabolism abnormalities and genetic metabolic diseases. The conference also arranged seven satellite meetings (including nine lectures), covering precocious puberty, diabetes, carnitine metabolism disorder, Gaucher's disease, etc. And set up 2 periods of special clinical case discussion. During the meeting, the participants had extensive exchanges and heated discussions with domestic and foreign experts on issues related to the diagnosis and treatment of children's endocrine genetic metabolic diseases.