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06 July 2023, Volume 38 Issue 7 Previous Issue   

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Consensus on diagnosis and treatment of childhood vasculitis in China： Kawasaki disease Academic Group of Pediatric Rheumatology and Immunology, Society of Pediatrics, Chinese Medical Doctor Association 2023, 38(7): 481-488.  DOI: 10.19538/j.ek2023070601 Abstract ( )   Kawasaki disease（KD）is a relatively common acute systemic vasculitis in children.Systemic inflammatory reaction can lead to multiple organ dysfunction，including cardiovascular system damage，KD shock syndrome and macrophage activation syndrome. This expert consensus focuses on clinical management of questions mainly from the perspective of rheumatology and immunology in order to have better treetment outcomes. The questions include diagnostic strategies，prompt treatment of incomplete KD，use of intravenous immunoglobulin（IVIG）with other adjuvant agents for patients with high-risk features of IVIG resistance and/or coronary artery aneurysms，treatment approaches for severe complications and vaccination recommendations. Based on the latest global and national consensus guidelines，combined with China’s actual situation，the consensus present these recommendations to assist physicians in managing KD.

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Consensus on diagnosis and treatment of childhood vasculitis in China：ANCA-associated vasculitis Academic Group of Pediatric Rheumatology and Immunology, Society of Pediatrics, Chinese Medical Doctor Association 2023, 38(7): 489-497.  DOI: 10.19538/j.ek2023070602 Abstract ( )   There is no standardized approach to the treatment of pediatric antineutrophil cytoplasmic antibody（ANCA）-associated vasculitis（ped-AAV）in China.Because of the rarity variety of manifestation，rapid progression and high mortality of ped-AAV，randomized trials have not been feasible.The Rheumatology and Immunology Group of Pediatric Branch of Chinese Medical Doctor's Association formulated this consensus to guide the diagnosis and treatment of ped-AAV in China.At present，there is a lack of large sample epidemiological data and ped- AAV randomized controlled clinical trials. Therefore，most of this consensus draws on adult data and children's relevant summaries，and combines the actual situation in China to analyze AN-CA related vasculitis，including microscopical polyangitis（MPA），granulomatosis with polyangitis（GPA）and eosinophilics granulomatosis with polyangitis（EGPA）. The clinical manifestations of ped-AAV are diverse. Before treatment，the disease activity should be evaluated，and CD20 monoclonal antibody combined with glucocorticoid should be recommended for severe and active patients to induce remission. Mycophenolate mofetil combined with glucocorticoid is recommended for severe and inactive patients.Early diagnosis，standardized individualized treatment and long-term management are the guarantees to improve the long-term remission and quality of life of AAV.

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Current status and tendency of neonatal genetic screening ZHANG Jin-man, ZHANG Yin-hong, HAN Lian-shu, et al 2023, 38(7): 498-501.  DOI: 10.19538/j.ek2023070603 Abstract ( )   Neonatal gene screening is a pre-symptom screening for genetic diseases that are relatively common in neonates and have certain clinical intervention values，such as hereditary deafness，metabolic diseases，blood diseases，neuromuscular diseases and immune deficiency diseases. The cost of neonatal gene screening is currently high，and there may be a few false positive diagnoses due to inappropriate judgment of the pathogenicity of some genetic variations. However， it has advantages that it can screen hundreds of diseases in only one test，it is highly efficient and sensitive，and it is independent of phenotype， which makes it a significant milestone innovation in neonatal disease screening，it will enable more children with genetic diseases to receive diagnosis and interventions in early stage before the damage of disease happens， reducing or avoiding health damage of diseases to suffered children.

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Emphasizing the diagnosis and treatment concept of ingestive trauma in children FANG Ying 2023, 38(7): 502-505.  DOI: 10.19538/j.ek2023070604 Abstract ( )   Pediatric ingestive trauma refers to gastrointestinal injury and related complications caused by children's oral ingestion of foreign bodies， caustic substances， and toxic substances. It has a high incidence， high disability rate， high mortality rate， and high medical expenditure， which seriously affects children's physical and mental health. Children with ingestive trauma require emergency treatment， which is heavily dependent on medical equipment and technically challenging. The medical level of hospitals in different classes is not sufficient for the homogeneous treatment of these children， resulting in delays and complications. Therefore， this paper proposes the concept of ingestive trauma for the first time， and puts forward a new understanding of the diagnosis and treatment concept of children's ingestive trauma based on the author's working practice and literature review， in order to comprehensively improve the medical treatment ability of children's ingestive trauma. In addition， we should pay attention to health education and establish the concept of prevention rather than treatment， which are important measures to reduce children's ingestive trauma.

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Multiomics technology for screening of genetic metabolic diseases in newborns ZOU Hui, GUO Yuan-fang 2023, 38(7): 506-510.  DOI: 10.19538/j.ek2023070605 Abstract ( )   “Omics” refers to the study of the laws of life activities of the body from a global perspective at the overall level. Multi omics technology is a comprehensive analysis technique that combines two or more single omics. Neonatal genetic metabolic disease screening refers to the technology of early diagnosis and intervention of diseases that endanger children's lives and affect their growth and development after the birth of a newborn， by taking blood from the heel for testing， in order to avoid disease-related disabilities. The screening of genetic metabolic diseases in newborns in China has been popular since the 1880s and has been implemented through legislation on maternal and infant health care. Currently， screening technology is constantly improving.According to the characteristics and clinical phenotypes of different genetic metabolic diseases and the characteristics of their biomarkers， multi omics technologies such as bioche-mistry， metabolomics， enzymology， and molecular technology have been applied to the screening of neonatal diseases， and the number of diseases that can be screened has also increased. The screening of phenylketonuria and congenital hypothyroidism， originally required by the Ministry of Health， has developed to diseases of amino acids， organic acids，fatty acid metabolism diseases， as well as dozens of diseases such as immune deficiency diseases and neuromuscular diseases.

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Importance of multidisciplinary diagnosis and treatment in neonatal screening HUANG Yong-lan 2023, 38(7): 510-513.  DOI: 10.19538/j.ek2023070606 Abstract ( )   Neonatal screening is a three-level prevention of birth defects and one of the important public health projects. Through early diagnosis and treatment， it can reduce the mortality and disability rate， and improve the quality of the birth population. With the advancement of tandem mass spectrometry and gene detection technology， the accessibility of treatments such as enzyme replacement and gene modification has increased， and a few rare genetic diseases have gradually become candidate diseases for neonatal screening. Establishing a multidisciplinary diagnosis and treatment team led by a screening center that is suitable for the screening of rare diseases， providing timely， personalized， professional， and comprehensive one-stop screening， diagnosis， and treatment plans for rare disease patients diagnosed through screening， is the direction of future efforts in neonatal screening.

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Management of positive screening and confirmed patients with neonatal genetic metabolic diseases YANG Ru-lai, SHU Qiang 2023, 38(7): 513-516.  DOI: 10.19538/j.ek2023070607 Abstract ( )   Neonatal inherited metabolic diseases screening is the tertiary preventive measures of prevention and control for birth defects.With the continuous increase of screening rates in various regions of China，more focus is given to the problem of how to improve the suspicious positive recall rate and implement the standardized management of confirmed children.In this paper，some suggestions will be put forward on the possible difficulties in management of screening positive and confirmed cases，in order to further improve the quality of standardized management of neonatal inherited metabolic diseases screening，diagnosis and treatment，and truly lay equal stress on screening and treatment.

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Interpretation of the expanded newborn screening results for inborn errors of metabolism by tandem mass spectro-metry LIANG Li-li 2023, 38(7): 516-520.  DOI: 10.19538/j.ek2023070608 Abstract ( )   The inborn errors of metabolism are a group of disorders caused by genetic defects that result in impaired metabolism of certain substances，with a complex spectrum of diseases and non-specific clinical manifestations.Without early diagnosis and intervention，the overall prognosis is poor.Tandem mass spectrometry can detect the levels of amino acids and carnitine，which is an effective means to diagnose amino acids，organic acid and fatty acids metabolic diseases.It has been increasingly used in the newborn screening in recent years，greatly facilitating the early diagnosis of genetic metabolic diseases.The present article describes the interpretation of the results of the tandem mass spectrometry in expanded newborn screening for inborn errors of metabolism.

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Current screening， diagnosis and treatment of phenylketonuria in neonates WANG Xiao-hua 2023, 38(7): 520-524.  DOI: 10.19538/j.ek2023070609 Abstract ( )   Phenylketonuria（PKU）is an autosomal recessive inherited disease，which is mainly caused by phenylalanine metabolism disorder due to deficiency of phenylalanine hydroxylase or its coenzyme tetrahydrobiopurine.The clinical manifestations of PKU are heterogeneous，mainly character-ized by developmental delay，intellectual disability，cerebellar atrophy，eczema，lighter pigmentation of skin and hair，and a musty odour.Early screening and diagnosis as well as aggressive treatment may prevent the occurrence of the above clinical manifestations. This article mainly describes the current screening，diagnosis and treatment of PKU，in order to provide guidance for clinicians to further understand PKU.

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Analysis of body composition and risk factors of non-alcoholic fatty liver disease in obese children LI Dong-dan, YAN Jie, WANG Mei-chen, et al 2023, 38(7): 525-529.  DOI: 10.19538/j.ek2023070610 Abstract ( )   Objective　To analyze the body composition and risk factors of non-alcoholic fatty liver disease in obese children and to provide basis for its clinical prevention and treatment. Methods　A total of 236 obese children from the Capital University of Medical Sciences Affiliated Beijing Children's Hospital were included in the study. They were dividid into two groups according to diagnosis criteria：135 in NAFLD group and 101 in non-NAFLD group. The body composition of the patients was measured by the body composition analyzer， and the general data of the patients were collected. Blood biochemistry， glycated hemoglobin， fasting insulin， fasting c-peptide and abdominal color ultrasound were examined. The features of the indexes were analyzed. Results　There were 148 males and 88 females， who aged 4-17 years， with an average age of （9.78 ± 2.39） years. In the 236 children， 232 had elevated fatlevel and 235 had higher percentage of body fat；protein was wigher in 22，inorganic salt was higher in 23 and the amount of muscle was higher in 32 children. The BMI，body fat，protein，inorganic salt，body fat percentage，visceral fat area，SMMI，FFMI，and basic energy metabolism were significantly higher in the NAFLD group than in the non-NAFLD group（P<0.05）. Serology analysis showed that NAFLD group had significantly higher levels of triglyceride，low density lipoprotein，alanine transaminase，aspartate transaminase，l-glutamine，uric acid，fasting C peptide and fasting insulin than non-NAFLD group. Logistic multivariate analysis showed that gender, ALT, visceral fat area, body fat, and Body fat percentage were independent risk factors for NAFLD in obese children. Conclusion　The incidence of NAFLD is high in obese children. Body composition analysis can provide a more comprehensive diagnosis and treatment assessment for obese children with NAFLD.The increase of Alt, splanchnic fat area, body fat, Body fat percentage and male are the high risk factors of NAFLD in obese children. clinical should be alert to them.

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Clinical characteristics of Behçet's syndrome in children：An analysis of 33 cases CHEN Feng-hua, AN Yun-fei, TANG Xue-mei 2023, 38(7): 530-535.  DOI: 10.19538/j.ek2023070611 Abstract ( )   Objective　To explore the clinical characteristics of Behçet's syndrome（BS）in children in a single center of the Children’s Hospital of Chongqing Medical University to improve clinicians' understanding of this disease..Methods　The clinical data of children who met the diagnostic criteria of BS in our hospital from January 2009 to March 2022 were analyzed retrospectively. The clinical manifestations，laboratory examinations and treatment methods were summarized. Results　1.General condition：among the 33 patients，there were 21 males and 12 females（male to female 1.75∶1）. The age of onset ranged from 6 months and 20 days to 16 years and 2 months，with an average age of（6.5±4.1）years. The age of diagnosis ranged from 7 months to 16 years and 4 months，with an average age of（8.9±4.2）years.The course from onset to diagnosis ranged from 10 days to 12 years，with a median course of 1.0（3.4）years. Six cases had a family history of related diseases. 2.The most common first symptom was oral aphthous ulcers，followed by fever and digestive system symptoms. All children had recurrent oral aphthous ulcers（33 cases，100%），digestive system manifestations and genital/perianal ulcers were in 22 cases（66.7%），skin lesions in 13 cases（39.4%），joint involvement in 11 cases（33.3%），eye involvement in 10 cases（30.3%），nervous system manifestations in 9 cases（27.3%） and vascular involvement in 5 cases（15.2%）. 3.Laboratory examinations：8 cases（24.2%）showed an increase in white blood cell count，16 cases（48.5%）had decreased hemoglobin，but there were fewer abnormalities in immunological indexes. 4.One case of TNFAIP3 gene missense mutation in exon 6 c.1804A>T（p.T602S）was found by gene detection，which was diagnosed as Haploinsufficiency of A20（HA20）.5.Comparison of diagnostic criteria：29 cases（87.9%）met ICBD criteria and 21 cases（63.6%）met PEDBD criteria.6.Treatment and prognosis：26 cases（78.8%） were treated with corticosteroids，of which 8 cases were treated with methylprednisolone（1-2 mg/kg bid，3-11days）intravenous drip，and some of them were treated with immunosuppressants（cyclosporine A，methotrexate）; 10 cases were treated with biological agents（infliximab and tocilizumab）. The symptoms and inflammatory indexes were well controlled and the amount of corticosteroids was decreased gradually.Conclusion　Mucosal lesion is the main manifestation of pediatric BS，and the gastrointestinal manifestations and eye symptoms are severe.Children with younger age of onset，family history，and severe symptoms should be alert to Behçet-like primary immunodeficiency diseases.Biological agents have been initially used in the treatment of BS in children，but large sample studies are still needed to evaluate their safety and efficacy.

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Progress in the diagnosis and treatment of Sotos syndrome LUO Tian, WANG Yi, ZHOU Shui-zhen, et al 2023, 38(7): 536-540.  DOI: 10.19538/j.ek2023070612 Abstract ( )   Sotos syndrome is an autosomal dominant genetic disorder characterized by congenital overgrowth，with an incidence of about 1 in 14，000 live births，characterized by specific facial appearance，overgrowth，advanced bone age，and varying degrees of developmental delay.The NSD1 gene variation is highly specific and sensitive to the diagnosis of Sotos syndrome.More than 90% of patients can detect microdeletions on chromosome 5q35 where the NSD1 gene is located or variants in the NSD1 gene.The proportion of microdeletions or variants in the NSD1 gene varied by race. For individuals with high clinical suspicion of Sotos syndrome，NSD1 gene sequence analysis and/or large deletion/repeat analysis of targeted gene are recommended.For atypical Sotos syndrome，CNVs combined with WES is recommended.The disease is characterized by overgrowth in the differential diagnosis of diseases，including Weaver-Smith syndrome，Cohen-Gibson syndrome，Beckwith-Wiedemann syndrome（BWS），fragile X syndrome，Marfan syndrome. Genetic counseling should pay attention to the possibility of rare mosaicism.There is no clinical trial for this disease at present，and the treatment is mainly symptomatic support，with most adult patients having a better prognosis，who can manage their lives on their own.

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Research progress in phenotypes and treatments of KCNMA1-related neurological disorders TIAN Xiao-juan, DING Chang-hong 2023, 38(7): 541-544.  DOI: 10.19538/j.ek2023070613 Abstract ( )   In recent years， the comorbidity of epilepsy and motor disorders has gradually attracted the attention of neurologists. Among them， ion channel disease is an important cause. KCNMA1 gene is a potassium channel coding gene. The phenotype spectrum of nervous system disease related to KCNMA1 variation includes paroxysmal non-kinesigenic dyskinesia and/or epilepsy. The purpose of this paper is to systematically summarize the phenotype spectrum and treatment of nervous system disease related to KCNMA1 gene variation， so as to guide clinical work.

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Progress of associated factors of sleep disorders in children with autism spectrum disorders CHEN Meng-xiang, GUO Lan-min, XING Xiao, et al 2023, 38(7): 545-550.  DOI: 10.19538/j.ek2023070614 Abstract ( )   Autism spectrum disorder （ASD） is a group of serious neurodevelopmental disorders， and sleep disorder is one of its common comorbidities. In recent years， more and more scholars at home and abroad pay attention to the sleep disorder of ASD children. Alleviating sleep disorders in children with ASD can not only improve clinical symptoms， increase rehabilitation effect and promote prognosis， but also reduce the pressure of parents. However， complex pathogenesis and lacking specific biological indicators result in uncertainty in diagnosis and treatment. This review systematically summarizes the research results of influencing factors of sleep disorders in ASD children at home and abroad， and provides a useful reference for better prevention and treatment of sleep disorders in ASD children in the future.

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Perampanel in the treatment of Dravet syndrome: A case report and literature review LUO Xu-feng, LUO Zhi-qiang, LI Yong-li, et al 2023, 38(7): 551-554.  DOI: 10.19538/j.ek2023070615 Abstract ( )   To summarize the clinical data of a child with Dravet syndrome treated with pirentanil in Shenzhen Children's Hospital on October 20， 2020. The manifestations of the child were  in multiple seizure forms， and the results of genetic testing suggested a mutation in the SCN1A gene. Multiple anti-seizure drugs are not effective. After the addition of pirenpamil treatment， the seizures in the child were gradually controlled， and there were currently no seizures. According to the relevant literature， there have been no literature reports on the treatment for Dravet syndrome with pirenpanide in China. A total of 22 cases have been reported in English. The effective rate is about 60.8%， and the complete control rate is about 21.7%. The incidence of side effects is not high， mainly manifested as irritability， lethargy， and other manifestations. Pirentanil may be effective in the treatment of refractory SCN1A mutant Dravet syndrome and can be used as an add-on treatment for refractory SCN1A mutant Dravet syndrome.

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Clinical characteristics of 3 cases of mental retardation caused by CTNNB1 gene mutation and the literature review CHEN Shu-juan, SONG Jia-li, XIN Qing-gang , et al 2023, 38(7): 555-560.  DOI: 10.19538/j.ek2023070616 Abstract ( )   The clinical data of 3 cases of mental retardatiion coused by CTNNB1 gene mutation who were treated in Tianjin Chilclren’s Hospital from june 2019 to saptember 2020 were collected，their clinical and genetic characteristics were analyzed，and the clinical and gene mutation characteristics of the patients reported at home and abroad were summarized. All the 3 patients had cognitive impairment，motor retardation，speech impairment，craniofacial malformation and microcephaly.Axial muscle tone was decreased and distal muscle tone was high. All had abnormal behaviors；2 cases had visual abnormalities；one case also had nystagmus；1 case was with dystonia and uncoordinated movement. Hyperstartle was found in 1 case. None of the 3 cases had epilepsy. None of them had the ability to walk alone at present.The mutation characteristics of CTNNB1 gene in the 3 cases were trunk-coding mutation in 2 cases（Exon3 c.82-83del and Exon14 c.2098DupA）and nonsense mutation in 1 case（Exon3 c.198G >A），all of which were pathogenic mutations，and the parents were all wild-type，none of which had been reported in previous literature，and they were new mutations. It is therefore believed that the clinical phenotype of this disease is complicated，but its main characteristics are relatively typical，which provides the basis for early clinical recognition of this disease. Splicing and nonsense mutations are the main mutation types in CTNNB1 gene.In this study，CTNNB1 gene mutations in 3 cases are all new mutations，which expands the gene mutation spectrum of this disease.