2013年 · 第51卷第04期

invasive fungal diseases (IFDs) refer to a large class of infectious diseases in which fungi invade deep tissues and organs of the body and/or fungemia spreads throughout the body, causing inflammatory reaction and tissue damage. Fungi can be carried in the human body, or they can be symbiotic or parasitic or colonized. Fungal infection refers to the spread of fungi to the human body and replication and reproduction. It can be pathogenic (clinical or subclinical) or non-pathogenic, but it causes an immune response in the body due to infection, which is then recognized by us. Therefore, the concepts of mycosis and fungal infection are different, and IFDs is more different from general mycosis. This article focuses on the antifungal therapy of IFDs.

Fungi are widespread in our living environment. At present, more than 100 species of fungi have been found to be pathogenic to humans. Because the pathogenicity of fungi is weaker than that of bacteria, most pathogenic fungi belong to opportunistic fungi (or conditional pathogenic fungi), except for pathogenic fungi such as Coccidioides, Blastomyces dermatitidis and Histoplasma, which can cause primary infections (mainly skin and subcutaneous tissue infections and endemic fungal diseases), which can cause opportunistic or secondary infections, especially invasive fungal diseases. Due to the increasing development of organ transplantation, bone marrow or hematopoietic stem cell transplantation and interventional therapy techniques, the epidemic of AIDS, the increasing incidence of diabetes and malignant tumors, and the excessive and irrational use of antibacterial drugs and glucocorticoids, the incidence of opportunistic pathogenic fungal diseases has shown an obvious upward trend in the world, which should attract great attention and attention of pediatricians in China. Invasive pulmonary mycosis is the most common manifestation type of invasive pulmonary mycosis in children. Although there is still a lack of large sample and multi-center clinical reports on invasive pulmonary mycosis in Chinese children, some literatures show that invasive pulmonary mycosis in children can account for more than 71% of invasive fungal diseases^[1,2]。 The following will mainly discuss the clinical diagnosis of common invasive pulmonary mycosis in children.

invasive fungal infections (IFIs) in children refer to fungal infections that invade deep tissues, internal organs, and the whole body, including deep tissue infections and fungal sepsis. In recent years, with the widespread application of broad-spectrum antibacterial drugs, glucocorticoids, immunosuppressants and antitumor drugs, the popularization of various catheters and ventilators, and the imperfect autoimmune function of children (especially premature infants, newborns, etc.), the incidence of IFIs in children is on the rise, and its clinical manifestations are lack of specificity, rapid progress, high mortality rate, and especially easy to be misdiagnosed in clinic^[1,2,3]。 Therefore, improving the diagnosis level of fungal infection in children has become a common focus in the field of pediatric infection.

The 9-year-old girl was the first child. She gave birth normally at full term. She had a birth weight of 3900 g. She had an Apgar score of 9 to 10 in 1 to 5 minutes. She had a varus left foot and had no obvious effect on conservative treatment by ligation/splinting. I don't like hugging. I can sit alone at 8 months, walk alone at 26 months, can't speak, have unconscious pronunciation, occasionally have "baba, mama"-like pronunciation, and have a short time to look at people. 33 months in pediatric department of another hospital: height, weight, head circumference and nutritional status were all in the normal range, lack of safe attachment relationship with parents, stereotypical movements, normal hearing test, no obvious abnormalities in blood biochemical examination, no abnormalities in typical acid metabolites in urine gas mass spectrometry, no abnormalities in amino acid profile and acyl carnitine profile measured by tandem mass spectrometry analysis of dried blood filter paper, normal cranial magnetic resonance (MRI) examination, moderately low developmental quotient by Gesell measurement, severe signs of autism in children with autism behavior examination, neuropsychological examination of children aged 0-6 years: large motor equivalent to 21 months, fine motor 11.5 months, adaptability 9 months, language 13 months, and social behavior 12 months. Symptomatic treatment and rehabilitation training were performed for the children. The mother of the child has reproductive requirements to come to our hospital for genetic counseling. The probands: long face, thick eyebrows, large auricle, low ear position, left foot varus, mental retardation, autism, hypotonia and unstable gait. The parents were 35 and 33 years old, respectively, with normal intellectual phenotypes. The face shape was Chinese character face and round face, normal eyebrow shape, normal auricle shape and ear position, and they were not close relatives. Both parties had no family history of genetic diseases.

A 3-year-old and 10-month-old male was admitted to hospital due to the discovery of "systemic lymph nodes and hepatosplenomegaly for more than 3 years". When the child was 9 months old, a mass appeared in the neck. When he went to the local hospital, he found multiple enlarged lymph nodes in the neck and hepatosplenomegaly. The diagnosis and treatment were unknown. Obvious spleen enlargement was found 7 months before admission. Blood tests in many hospitals showed moderate anemia and thrombocytopenia, with the lowest platelet as low as 9×10⁹/L, multiple bone marrow examinations revealed: hyperplastic bone marrow image, poor megakaryocyte maturity, no abnormal cells. The results of bone marrow flow cytometry showed that CD4/CD8 was inverted in mature lymph, and no abnormal phenotype was found. Both bilateral lymph node biopsies revealed reactive lymphoid tissue hyperplasia. Abdominal CT showed multiple lymph nodes enlarged in the abdominal cavity and hepatosplenomegaly. Because of the unknown diagnosis in the other hospital, he came to our hospital for further diagnosis and treatment.

polycystic kidney disease can be divided into autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) according to different genetic patterns. Among them, ARPKD is the most common hereditary cystic kidney disease in childhood, and the incidence of this disease is high, with the incidence of 1/20 000 surviving children^[1]。 The main characteristics of ARPKD are spindle dilatation of the renal collecting duct and congenital hepatic fibrosis. Due to the insufficient understanding of ARPKD disease in China, missed diagnosis or misdiagnosis often occur in clinic. Although there has been no rapid change in the research on ARPKD at home and abroad in recent years, in order to strengthen the understanding of ARPKD among pediatricians and nephrologists in China and improve the diagnosis and treatment level of ARPKD, it is still necessary to review the diagnostic information and progress of ARPKD, so as to improve the early diagnosis rate of ARPKD and provide objective basis for genetic counseling.

Hereditary methylmalonic aciduria is the most common type of congenital organic acid metabolism disease, and its etiology includes methylmalonyl-CoA mutase deficiency and its coenzyme cobalamin (vitamin B₁₂) metabolic defects in two categories. Seven subtypes have been found so far, all of which are autosomal recessive^[1]。 Two of the five cobalamin metabolism disorders are adenosylcobalamin synthesis defects, namely mitochondrial cobalamin reductase deficiency (cblA) and cobalamin adenosine transferase deficiency (cblB), and three are hydroxycobalamin and methylcobalamin synthesis defects caused by abnormal cytoplasmic and lysosomal cobalamin metabolism (cblC, cblD, cblF)^[2,3]。 cblA and cblB patients only suffered from methylmalonic aciduria, while cblC, cblD and cblF patients had methylmalonic aciduria combined with homocysteinemia^[3]。 Methylmalonic aciduria combined with homocysteinemia is the main biochemical phenotype of methylmalonic aciduria patients in China. 60% ~80% of the patients with methylmalonic aciduria clinically found in China are methylmalonic aciduria combined with homocysteinemia^[4,5,6]。 The patient's clinical phenotype is complex. cblC deficiency is the main cause of methylmalonic aciduria with homocysteinemia and the most common disorder of cobalamin metabolism^[7,8,9]。 This is a summary.

The 11th National Conference on Children's Liver Diseases and the 10th National Conference on Pediatric Infectious Diseases was held in Tunxi City, Anhui Province from June 28 to 30, 2012. This conference was jointly sponsored by the Children's Liver Diseases and Infectious Diseases Group of Infectious Diseases Branch of Chinese Medical Association, the Infectious Diseases Group of Pediatrics Branch of Chinese Medical Association and the Editorial Committee of Chinese Journal of Pediatrics. More than 150 people from all over the country attended the conference, and a total of 145 papers were received, including 33 papers on childhood liver disease and 112 papers on infectious diseases, of which 31 papers were selected as speakers at the conference. The conference set up 10 special lectures, invited domestic and foreign experts on liver diseases and infectious diseases to give special reports on hot issues such as drugs and childhood liver diseases, childhood liver disease pathology, childhood hepatitis B virus infection, gastrointestinal and nutritional management of liver diseases, diagnosis and treatment of hepatolenticular degeneration, scarlet fever, symbiotic bacteria and anti-infective immunity, translational medicine research related to infectious diseases, and the influence and influencing factors of medical papers, and held a symposium on "Expert Consensus on Antiviral Treatment of Children with Chronic Hepatitis B in China (Draft for Comment)". The participants had extensive exchanges and heated discussions with domestic and foreign experts on the clinical focus issues of childhood liver disease and infectious diseases.