2013年 · 第51卷第06期

In 1956, pituitary derived human growth hormone (phGH), isolated and purified from the human pituitary gland, was introduced and subsequently applied to the treatment of growth hormone deficiency (GHD). Dozens of cases of Creutzfeldt-Jakob disease have been reported in patients treated with phGH since 1984^[1]phGH was banned by the US Food and Drug Administration (FDA) in early 1985. In the following months, biochemically synthesized growth hormone was approved by the US FDA for marketing, but it was quickly discontinued because it had high antigenicity and was prone to producing antibodies. In the same year, recombinant human growth hormone (rhGH) was successfully synthesized and marketed in vitro, making a large number of clinical applications of GH possible. The US FDA approved it for the treatment of children with GHD, and successively approved it for chronic renal insufficiency. Treatment of short stature in patients with non-growth hormone deficiency such as pre-renal transplantation, Turner syndrome, Prader-Willi syndrome, small for gestational age (SGA), idiopathic short stature (ISS), short bowel syndrome, SHOX gene deletion, and Noonan syndrome^[2]。

Hepatolenticular degeneration, also known as Wilson's disease (MIM 277900) is due toATP7BAn autosomal recessive genetic disease with abnormal copper metabolism caused by gene mutation, the prevalence of population is 1/30 000~100 000^[1]The carrying rate of pathogenic gene mutation is 1/90^[2]。 There are literature reports that the prevalence of Chinese and Japanese races is as high as 1/10 000^[3]。ATP7BOn the one hand, the gene mutation causes the production of ceruloplasmin to decrease significantly, on the other hand, it leads to the obstacle of copper ion transport and excretion in hepatocytes, which directly causes the destruction of hepatocytes and the obvious increase of copper ion content in blood. Theoretically, free harmful copper ions can be deposited in all tissues and cause lesions, but clinically, the vast majority of patients have liver and/or nervous system involvement as the main manifestation. As for how free copper ions selectively enter different tissues, how many free copper ions need to be deposited in different tissues before clinical manifestations appear, and whether there are other regulatory genes involved in the excretion or pathogenesis of copper ions, etc. It is not clear at present. Hepatolenticular degeneration If left untreated, patients will die from progressive liver failure. However, with early diagnosis and lifelong dietary control (low copper diet) and medication under the guidance of a physician, the vast majority of patients can go to school, work, marry and have children normally, and have a life expectancy close to normal. If the parent or patient stops treatment midway for various reasons, the patient's condition can deteriorate irreversibly or even die 9 months to 3 years after stopping the drug^[4,5]。 It can be seen that the importance of lifelong treatment for patients and families with hepatolenticular degeneration is particularly significant.

The National Symposium on Clinical Trials of New Children's Drugs was held in Beijing from October 19 to 21, 2012. This is the first nationwide large-scale academic activity of the Clinical Pharmacology Group of Pediatrics Branch of Chinese Medical Association since its formal establishment in August 2011.

The 15th National Pediatric Nephrology Academic Conference of Nephrology Group of Pediatrics Branch of Chinese Medical Association was held in Hangzhou on October 11th, 2012. 395 delegates from all over the country attended the meeting. There were 4 lectures, 3 case discussions, 21 conference speeches and 298 written exchanges. Extensive and in-depth discussions were conducted around various primary, secondary and hereditary kidney diseases. The venue was packed and the discussion atmosphere was lively. Nephrotic syndrome was still the hot topic of this meeting. In addition, the Nephrology Group of the Pediatrics Branch of the Chinese Medical Association also reported the preliminary results of the current research on the treatment of several common kidney diseases in children.

In 1985, recombinant human growth hormone (rhGH) came out, which brought hope for the treatment of short-stature children. Subsequently, rhGH has been rapidly applied in clinical practice, and its therapeutic effectiveness has been widely verified. Research on the therapeutic scope, treatment plan, efficacy and safety of rhGH is increasingly in-depth. In order to standardize the application of rhGH and the diagnosis and treatment of short-stature children, the Endocrine Genetics and Metabolism Group of Pediatrics Branch of Chinese Medical Association put forward "Suggestions on the Clinical Application of Genetically Recombinant Human Growth Hormone" in 1998^[1]In 2008, the Guidelines for the Diagnosis and Treatment of Children of Short Stature were formulated^[2]。 However, there are still many problems in clinical practice such as random expansion of the application scope of rhGH, irregular disease diagnosis and excessive treatment, which brings many hidden dangers to the treatment of rhGH. In order to further standardize the clinical application of pediatric rhGH, the Endocrine Genetics and Metabolism Group of the Pediatrics Branch of the Chinese Medical Association and the Editorial Board of the Chinese Journal of Pediatrics referred to the relevant rhGH diagnosis and treatment consensus of the U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMEA), Lawson-Wilkins Pediatric Endocrinology Society, European Pediatric Endocrinology Society (ESPE), Growth Hormone Research Society (GHRS), and American Society of Clinical Endocrinology (AACE)^{[3,4,5,6,7,8,9]}Some experts of the Classics Group discussed and approved, and formulated recommendations for the application of this rhGH clinical specification.

Through sharing the diagnosis and treatment of vaginal bleeding cases in young girls with clinicians, reviewing relevant literature, discussing how to correctly apply the "Guidelines" and how to standardize the application of some specialized drugs. At the same time, it also calls for rare specialty diseases to make use of and give full play to the existing three-level system of medical institutions in China, so that children can get reasonable diagnosis and treatment in time.

With the rapid transformation of society and the rapid development of economy, the problem of dyslipidemia in children and adolescents caused by overnutrition has become increasingly prominent, and the prevalence of metabolic syndrome characterized by obesity, hyperglycemia, hyperlipidemia and hypertension has also increased year by year^[1]。 In order to meet the need for better prediction and management of blood lipid levels, people have been actively looking for blood lipid indicators with better clinical value for cardiovascular disease risk stratification and lipid-lowering therapy. In recent years, non-high density lipoprotein cholesterol (non-HDL-C) first plays an important role in the prevention of cardiovascular diseases as a key index of adult dyslipidemia, and then has attracted the attention of pediatrics. The clinical significance of non-HDL-C and its current application in children and adolescents with dyslipidemia are reviewed.

Sleep epilepsyelectrical status epilepticus in sleep (ESES), also known as persistent slow wave emission in slow wave sleep, belongs to a kind of persistent epilepsy that occurs during the non-rapid eye movement phase (NREM) of sleepLike brain electrical firing phenomenon. ESES was created by Patry et al.^[1]It was first discovered in 1971 that the sleep spike index is an important diagnostic criterion for ESES, which refers to the percentage of all abnormal slow spike duration in NREM sleep in all sleep cycles. Patry et al.^[1]It is pointed out that ESES can only be diagnosed by monitoring the spike index between 85% and 100% three times in a period of one month. Since then, there has been controversy about the spike index required to diagnose ESES. Most scholars have found that when the spike index is less than 85%, the effect of cognitive impairment in children is not obvious^[2,3]； Subsequently, more studies have found that in some ESES-related electroclinical syndromes, even if the spike index does not exceed 85%, cognitive impairment can occur. Therefore, in recent years, some scholars have proposed that the spike index as the diagnostic criterion of 50% can be considered for diagnosis^[4]。 The literature reported that ESES can be found in a variety of etiologies and a variety of electroclinical syndromes, which are usually difficult to detect in awake EEG, and only present ESES in sleep EEG^[2]Therefore, some cases cannot be diagnosed in time. The epidemiological data of ESES, related etiology and electrophysiology of ESES are presentedCharacteristics of seizures and associated electroclinical syndromes, as well as related therapeutic advances, are summarized below.

An 11-year-old 7-month-old male was admitted due to numbness in both fingers for 4 d and difficulty walking in both lower limbs for 2 d. Four days before admission, there was numbness in both fingers due to upper respiratory tract infection, no abnormal movement, no joint swelling and pain, etc. Two days before admission, he developed instability in walking of both lower limbs, which gradually aggravated, and he could not stand. One day before admission, he developed dysphagia, choking and coughing after drinking water, no vomiting, no breathing effort, and no retention of urine and stool, so he was admitted for treatment. The child was born by cesarean section at term, with a birth weight of 3.5 kg, normal growth and development history, healthy parents and no hereditary diseases in the family.