2014年 · 第52卷第04期

In recent years, the international pediatric community has paid attention to the diffuse pulmonary parenchymal disease/pulmonary interstitial disease in children (children's diffuse parenchymal lung disease/children's interstitial lung disease, chDPLD/chILD or pediatric diffuse parenchymal lung disease/pediatric interstitial lung disease, pDPLD/pILD, The research of childhood diffuse lung disease (DLD) is progressing rapidly. The United States, Britain, France and other countries have chDPLD/chILD research collaboration groups or research groups. Research teams from various countries have carried out multi-faceted research such as online registration, etiology analysis, diagnosis and treatment strategies, and genetic factors. Since its establishment in 2009, the Children's Diffuse Parenchymal Pulmonary Disease/Interstitial Pulmonary Disease Collaborative Group (hereinafter referred to as the Collaborative Group) has taken the international diagnostic model (clinical-radiologic-pathologic diagnosis, C-R-P diagnosis) as the model. It has made progress in improving the diagnostic level of chDPLD/chILD in the Collaborative Group, and has stepped into the advanced ranks in the field of chDPLD/chILD in China^[1,2,3]。 With the acceleration of international standards, we have gradually realized that there are many differences between chDPLD/chILD and adult DPLD/ILD, especially in infants and young children. Moreover, compared with the increasingly mature European and American research teams in the world, there is a certain gap in the cognition of the diagnosis and treatment of infant ILD. Therefore, it is necessary to strengthen the understanding of infant ILD and carry out extensive and in-depth clinical research. This journal publishes the special lecture "Progress in the diagnosis and treatment of interstitial pulmonary diseases unique to infants and young children", the literature review "Interstitial pulmonary diseases caused by gene defects in infants and young children" and the Children's Hospital affiliated to Chongqing Medical University "ABCA3Clinical studies of ILD in infants, such as "Clinical Analysis of Heterozygous Mutation Cases", "High-resolution CT Manifestations of Diffuse Lung Disease in Infants" in Children's Hospital Affiliated to Capital Institute of Pediatrics, and "A Case of Infant Neuroendocrine Cell Hyperplasia" in Beijing Children's Hospital Affiliated to Capital Medical University, will fully explain all aspects of ILD diagnosis and treatment in infants and young children, which is very helpful for improving the cognition and diagnosis level of pediatricians nationwide, especially respiratory doctors.

Infant and young childhood is a special stage of growth and development. Recent studies have shown that some special types of diffuse parenchymal lung disease/interstitial lung disease (DPLD/ILD) only exist in infants and young children, and their clinical, imaging and pathological characteristics are certain^{[1,2,3,4,5,6]}Early identification, early diagnosis and timely treatment are needed. The unique ILD in infants and young children is described below, aiming at improving the understanding of these diseases among pediatricians in China.

Diffuse pulmonary parenchymal disease/pulmonary interstitial disease (DPLD/ILD) is a heterogeneous group of diseases with different etiologies but similar clinical, imaging and histopathology, which is currently considered to include more than 200 diseases. DPLD/ILD (chDPLD/chILD) in children, especially infants and young children, is similar to that of adults, but also special. For example, the etiology and prognosis of chILD are obviously different from those of adults. Usually, primary pulmonary interstitial fibrosis (IPF) commonly diagnosed in adults is almost absent in children, and the prognosis of chILD is usually better than that of adults. According to the guidelines and consensus at home and abroad, the classification of chILD is also obviously different from that of adults. Usually, chILD is divided into: (1) exposure-related ILD: common exogenous allergic alveolitis (EAA) and drug-induced lung damage; (2) ILD related to systemic diseases: common connective tissue diseases include alveolar hemorrhage syndrome caused by vasculitis, Langerham cell histiocytosis (LCH) and metabolic diseases such as glycogen accumulation disease; (3) ILD related to alveolar structural disorders: including infectious causes, idiopathic pulmonary hemosiderosis, alveolar proteinosis, eosinophilic pneumonia, idiopathic interstitial pneumonia (IIP), etc.; (4) Common or unique ILD in infants and young children: including neuroendocrine cell proliferation (NEHI), alveolar simplification, inborn errors of surfactant metabolism (IESM), pulmonary interstitial glycogen accumulation disease, alveolar capillary dysplasia^[1,2,3]。 chILD caused by genetic factors occupies an important position in infants and young children. In recent years, foreign research on this aspect has made rapid progress. American guidelines have listed genetic diagnosis as one of the main diagnostic methods for infant DPLD/ILD^[4]These diseases and their genetic diagnosis are reviewed.

Hemophagocytic syndrome, also known as haemophagocytic lymphohistiocytosis (HLH), is a group of rare clinical syndromes caused by excessive proliferation of lymphocytes and histiocytes and uncontrolled immune response causing high inflammatory response in multiple organs. It has an acute onset, rapid progression and high mortality rate^[1]。 Clinical manifestations include: fever, hepatosplenomegaly, respiratory symptoms, superficial lymph node enlargement, jaundice, rash, serous effusion, skin ecchymosis or bleeding spots, central nervous system symptoms, renal impairment, etc.^[2]。 HLH can be divided into primary HLH and acquired HLH. Primary HLH includes familial HLH (FHL1-5) and HLH caused by primary immunodeficiency syndrome, mainly occurring in infants or early childhood; Acquired HLH is secondary to infections, rheumatic diseases and tumors. With the deepening of the research on HLH, the understanding of HLH has made great progress. This paper explains the research progress of the pathogenesis, diagnosis and treatment of primary HLH.

A 10-month-old child was admitted to our hospital on June 3, 2009 due to "cough for 2 months and shortness of breath for 1 month". Two months before admission, the child had a cough without phlegm, and was accompanied by low fever for 1 d at the beginning of the disease. The local hospital considered "pneumonia". After anti-infective treatment, the body temperature returned to normal, but he still had a cough and gradually appeared shortness of breath. One month before admission, the child was treated in the local county hospital due to cough and shortness of breath. The chest X-ray film considered "pneumonia" and was given anti-infective treatment. The child's cough improved and shortness of breath persisted. The child was transferred to the local children's hospital. CT of the lung showed ground glass shadows of both lungs, which was considered "interstitial pneumonia". Intravenous methylbonylone 2 mg/ (kg·d) was administered, but the child's shortness of breath was still not relieved. For further diagnosis and treatment, we went to the outpatient department of our hospital. Lung CT showed ground glass shadows in both lungs and uneven ventilation. Considering "bronchiolitis obliterans", we were given montelukast 4 mg/d for 1 month, but the child's condition did not improve. Reexamination of lung CT showed ground glass shadows in both lungs and uneven air in the lungs, which was aggravated compared with before (Figure 1), so he was admitted to the hospital for further treatment. This child is a full-term infant with normal growth and development, good health in the past, and no history of similar diseases in the family.

From November 1 to 2, 2013, the "2013 Newborn Academic Symposium" jointly organized by the Neonatology Group of Pediatrics Branch of Chinese Medical Association and the Editorial Committee of Chinese Journal of Pediatrics of Chinese Medical Association was held in Wujiang, Jiangsu Province. More than 600 newborn professionals from all over the country attended this conference. In view of the hot issues in the field of newborns at home and abroad, 11 experts were invited to give special lectures, 22 papers were selected as speakers at the conference, and more than 200 papers were exchanged at the conference.

Vitamin D is a group of biologically active fat-soluble steroid derivatives with a wide range of physiological effects. Vitamin D required by human body is mainly synthesized by skin through ultraviolet irradiation. After entering the blood circulation, vitamin D binds to vitamin D binding protein, and is transported to the liver and kidney successively, and 25-hydroxyvitamin D is produced under the action of 25-hydroxylase and 1 α-hydroxylase, respectively₃[25 (OH) D₃] and the active form of 1,25-dihydroxyvitamin D₃[1,25 (OH)₂D₃]。 1,25 (OH)₂D₃Subsequently, it enters the target tissue and acts on the vitamin D receptor (VDR) in the cell, thereby exerting its biological role. The latest research shows that the biological properties of vitamin D not only regulate various physiological functions by promoting the absorption of calcium and phosphorus in the body, but also play a certain role in improving sleep and treating sleep-related diseases. The research progress of the relationship between vitamin D and sleep is reviewed.