2015年 · 第53卷第04期

The Chinese Medical Association Nephritis Symposium held in Beidaihe in October 1977 gathered domestic adult and children's kidney experts at that time. As the first national renal professional conference, it is praised as the starting point of "modern nephrology" in China. The Pediatric Nephrology Research Collaboration Group (referred to as the Collaboration Group), which was formally established in Nanjing in May 1979, is the first national academic organization specializing in pediatric nephrology. As the predecessor of the kidney professional group (referred to as the group) of the Pediatrics Branch of Chinese Medical Association in the future, it opened a new era of the rise and development of Chinese children's kidney (referred to as children's kidney) profession; At the same time, the Kidney Professional Group of the Pediatrics Branch of the Chinese Medical Association also started her 35-year development process^[1]。

Since its establishment for more than 30 years, the Hematology Group of Pediatrics Branch of Chinese Medical Association has achieved breakthroughs in the diagnosis, treatment and prevention of children's blood diseases under the leadership of previous group leaders. Looking back at the development process of the school group, it has roughly gone through four stages.

Pediatric gastroenterology is a clinical discipline that studies children's digestive system and its related diseases, also known as pediatric gastroenterology. Its main task is to study the epidemiology, etiology, pathogenesis, pathology, clinical manifestations, diagnosis and differential diagnosis, prevention, treatment and prognosis of children's digestive system organ diseases, usually including three major professional fields: gastrointestinal, hepatobiliary and pancreatic and nutrition. The foundation of pediatric digestive specialty in China is weak, and it has only developed rapidly since the reform and opening up. At present, the pediatric digestive specialty has begun to take shape, and the three major professional fields have stable clinical and scientific research teams, which have played an important role in improving the diagnosis and treatment of children's digestive system diseases. The review and prospects are as follows.

As the 14th group of the Pediatrics Branch of the Chinese Medical Association, the Pediatric Clinical Pharmacology Group has been established less than 4 years ago. On the basis of the pediatric clinical pharmacology work laid by its predecessors, under the academic guidance of the Chinese Medical Association and the joint efforts of the members of the group, gratifying results have been achieved and a new situation for the development of the group has been created.

The World Health Organization defines rare diseases as diseases or lesions in which the number of patients is 0.65‰ ~1‰ of the total population^[1]Also known as orphan diseases. The 2007 edition of the International Classification of Diseases (ICD-10) classifies rare diseases into 18 broad categories^[2]Including genetic metabolic diseases, hematological tumors, neurological diseases, infectious diseases, subacute sclerosing encephalitis, multiple sclerosis, rare cancers, AIDS and related diseases, etc.^[3]。 There are more than 7,000 internationally recognized rare diseases, accounting for about 10% of human diseases, of which about 80% are hereditary diseases, and 50% to 60% occur in childhood^[2]。 Conducting basic and clinical research on rare diseases and exploring new therapeutic interventions has become a hot spot of global attention. The last day of February is designated as "International Day of Rare Diseases" every year. Most rare diseases are still "incurable", with only about 1% effectively treated, and Gaucher's disease is a lucky 1%. Taking the current status of diagnosis and treatment of Gaucher's disease in China as the starting point, we can get a glimpse into the development process, challenges and future of rare disease research in China.

Gaucher disease (Gaucher disease) is a common lysosomal storage disease and an autosomal recessive genetic disease. Due to the mutation of glucocerebrosidase gene, the body lacks the activity of glucocerebrosidase (also known as acid β-glucosidase), which causes its substrate glucocerebroside to be stored in the lysosomes of macrophages in the liver, spleen, bones, lungs, and even the brain, forming typical storage cells, namely "Gaucher cells", resulting in pathological changes in the affected tissues and organs, and the clinical manifestations of multiple organ involvement and progressive aggravation. Glucocerebrosidase gene is located on chromosome 1q21. More than 400 mutations of this gene have been reported in patients with Gaucher disease. The mutation type and proportion are ethnically different, and the relationship between genotype and clinical phenotype is still uncertain. The incidence of Gaucher's disease varies greatly among ethnic groups^[1,2,3]At present, there is no accurate epidemiological data in China.

Male, 3 months 10 d, admitted for repeated convulsions 10 d. Ten days before admission, convulsions began to appear without obvious trigger, manifested as blinking of the eyes, twitching of the corners of the mouth, and spasm of the limbs. Each time lasted for several seconds to more than ten seconds, which could be relieved naturally, and the attacks occurred in strings, more than 10 times per string, 6~7 strings per day. The child was the second birth, the second birth, the full-term natural birth, the birth weight was 3 500 g, and the history of birth asphyxia was denied. There was no abnormality in the maternal history of pregnancy and delivery, and the family history of epilepsy and genetic history were denied.

Male, born 2 h, was admitted to Quanzhou Children's Hospital in January 2014 due to multiple skin nodules found all over his body after birth. He was the first child of his mother. After birth, the child found multiple nodules on the skin of the whole body, which were tan, without fever, cyanosis, convulsions, and good reaction. His mother had no abnormalities during pregnancy, no history of special medication, and denied the history of family genetic diseases. Physical examination: temperature: 36.0 ℃, pulse: 130 beats/min, breathing: 45 beats/min, weight: 3.4 kg, mental reaction acceptable, no special face, no abnormalities in heart, lung and abdomen, and muscle tone of limbs acceptable. Dermatological examination: Multiple irregular-shaped nodules were seen on the skin throughout the body (Figure 1), with clear boundaries, 0.5-2.5 cm in diameter, tough texture, acceptable mobility, tan-brown pigmentation on the surface skin, which does not fade when pressed, positive Darier sign, Nissl sign (–), no blisters or ulcers on the skin of the whole body. Laboratory tests: Emergency biochemistry complete set: total protein 50.9 g/L, albumin 38.9 g/L, serum total bilirubin (TBIL) 52.4 μ mol/L, alanine aminotransferase (ALT) 24 U/L, aspartate aminotransferase (AST) 80 U/L, lactate dehydrogenase (LDH) 520 U/L, creatine kinase (CK) 1 052 U/L, creatine kinase isoenzyme (CK – MB) 79.0 U/L. Blood routine: white blood cells 13.4×10⁹/L, neutrophils 0.694, hemoglobin 152 g/L, platelets 332×10⁹/L, C reactive protein (CRP): 0.50 mg/L. The blood coagulation function was normal, TORCH test was negative, and the antibodies of hepatitis A, hepatitis B, hepatitis C, syphilis and HIV before transfusion were all negative. Humoral immune function monitoring was normal. Blood culture: no bacterial growth. Chromosome report: 46XY. Abdominal color ultrasound showed multiple hypoechoic mass occupation under the skin of the whole body, and no abnormalities were found in liver, gallbladder, spleen and abdomen. No abnormalities were found on chest X-ray and cranial magnetic resonance imaging (MRI). Examination of retinopathy in premature infants (ROP): Retinal vessels in both eyes developed near serrated margin, with more hemorrhagic foci around them. Pathological and immunohistochemical examination of skin nodules: No obvious abnormalities were found in the epidermis, and short fusiform and oval cells infiltrated in the superficial and middle layers of the dermis (Figure 2), Jimsa staining: violet-blue metachromatic particles were visible in the cytoplasm (Figure 3)； Immunohistochemistry: CD43+ + +, LCA + + +, lys + + +, CD68 (kp1) + + +, CD4+, CD117 individual cells +, myeloperoxidase (MPO) + or-, CD1a, S-100, CD56, TdT, CD20, PAD-5, CD3, CD7 all negative, Ki67 marker index approximately 80%. Diagnosis of "neonatal cutaneous mastocytosis-nodular type". Cyproheptadine tablets were given oral treatment. No new nodules appeared after 1 month of follow-up. The original skin nodules gradually shrank and decreased, and completely disappeared after about 3 months, leaving tan pigmentation.

Female, 3 years old, admitted for "fever, cough for 9 d, shortness of breath for 4 d". The child developed fever with cough 9 days before admission, and was treated with oral cefadroxil granules outside the hospital 8 days before admission. The cough worsened and the body temperature did not go down. Five days before admission, a chest X-ray was taken in the local hospital, showing "right lung inflammation", and intravenous infusion of cefmetazole was given to fight infection. Four days before admission, the child developed shortness of breath, and cefoperazone and sulbactam combined with azithromycin were switched to fight infection. On the day of admission, the child's shortness of breath was worse than before, and his body temperature was as high as 39.9℃. Reexamination of chest X-ray showed that "right lung inflammation was aggravated and right pleural effusion", so he was transferred to our hospital. The child was previously in good health.

rare disease, referred to as "rare disease" or "orphan disease" for short, refers to a disease with a very low prevalence and rare prevalence. The World Health Organization (WHO) defines rare diseases as diseases or lesions with cases ranging from 0.65‰ to 1‰ of the total population. However, there are some differences in the identification criteria of rare diseases among countries (regions). The definition of rare diseases in the United States, Japan and Australia is a disease with less than 200,000 cases (about 0.75‰ of the total population), less than 50,000 cases (about 0.4‰ of the total population) and less than 2,000 cases (about 0.1‰ of the total population), respectively; The EU definition of a rare disease is a disease with a prevalence of less than 0.5‰. At present, there is no official definition of rare diseases in my country. Among them, the Genetic Medicine Branch of the Chinese Medical Association defines rare genetic diseases as diseases with a prevalence rate of less than 1/500,000 in the population and a prevalence rate of less than 1/500,000 in newborns.^[1]。 The Center for the Development of Rare Diseases recommends the definition of rare diseases as follows: Rare diseases refer to diseases that affect a small number of people. Generally speaking, they refer to diseases with a prevalence rate of less than one in 100,000 or a neonatal incidence rate of less than one in 10,000. Diseases, or those who have been reviewed and determined by the Rare Diseases Committee and announced by the central competent authority due to special circumstances^[2]。 Today, about 6,000 rare diseases have been confirmed worldwide, 80% of which are caused by congenital genetic defects. Among them, about 50% of patients can develop the disease at birth or in childhood, with rapid disease progression and high mortality rate.

Gaucher disease is an autosomal recessive genetic disease, also known as glucose ceramide storage disease. It was first reported by French doctor Gaucher in 1882 and named after it. The clinical symptoms of Gaucher's disease are extensive, and the common symptoms are unexplained splenomegaly, hepatomegaly, anemia, thrombocytopenia, bone pain, neurological lesions, etc. However, the above symptoms are not unique to Gaucher's disease. Therefore, the diagnosis cannot be achieved by clinical symptoms alone. In recent years, with the deepening of understanding and research on the etiology of Gaucher disease, many recent research achievements have emerged in the clinical diagnosis of Gaucher disease at home and abroad. The research progress of diagnostic techniques and diagnostic pathways of Gaucher disease is summarized as follows.

benign familial infantile epilepsy (BFIE) is a not uncommon hereditary focal epileptic syndrome, previously also known as benign familial infantile convulsions (BFIC or benign familial infantile seizures, BFIS). 1992 Vigevano et al.^[1]The first cases of benign epilepsy with infancy onset with family history were reported, and it was proposed to designate the disease as benign familial infantile convulsions (BFIC). Subsequently, the reports of the disease gradually increased. In 2001, the International League Against Epilepsy (ILAE) recommended that BFIC be classified as an independent epileptic syndrome in the group of familial focal Epilepsy, named BFIS. In 2010 ILAE renamed it BFIE^[2]。 In recent years, reports about this disease have gradually increased, and significant progress has been made in the research of its pathogenic genes. Now, the research progress of molecular genetics of this disease is reviewed.

Human Milk Banking Association North America (HMBANA) The fifth International Congress on Donor Human Milk Banking It was held in Victoria, Canada on April 28 – 29, 2014, with nearly 300 delegates from 20 countries and 6 pediatrician representatives from China. The academic theme of this conference is: "Human Milk: Evidence, Strategy and Ethics". The conference reaffirmed that North American Institute of Human Milk Banks' response to the World Health Organization (WHO) regulation on the market of human milk substitutes (HMBANA Statement on WHO Code of Marketing of Breast Milk Substitutes) Acknowledgement and compliance. It indicates that the academic direction of human milk bank is the basic position and suitable technical means in adhering to and promoting breastfeeding, which is a global strategy of infant feeding. Especially for premature infants and/or low birth weight infants, infants with severe diseases and infants with frailty caused by various medical reasons, it provides an important means of breastfeeding. Several keynote presentations of the conference also centered on how to carry out breastfeeding in the intensive care unit (ICU). The establishment of human milk bank and the academic activities of human milk bank academic organization are not only discussing the technical operations of human milk collection, transportation, storage and detection, but cooperating with the promotion of breastfeeding strategic planning, making it a suitable technology in clinical medicine and rescue treatment plan.