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06 April 2020, Volume 35 Issue 4 Previous Issue    Next Issue

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Interpretation of international guidelines for diagnosis and treatment of rheumatism in children（Ⅰ）：Interpretation of the EULAR/ACR classification criteria of systemic lupus erythematosus SONG Hong-mei 2020, 35(4): 249-252.  DOI: 10.19538/j.ek2020040601 Abstract ( )   Systemic lupus erythematosus（SLE） is a complex autoimmune disease characterized by multisystemic damages and the presence of autoantibodies. In the past twenty years，the classification criteria for SLE?had been revised and updated by different professional associations or specialized groups，in each of which the sensitivity and specificity varied. With a goal of improving the specificity and sensitivity of clinical diagnosis，the European League Against Rheumatism（EULAR） and the American College of Rheumatology（ACR） jointly published a new set of classification criteria in 2019. This?paper will briefly introduce and describe the application of the newest classification criteria based on my own understanding of it.

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Interpretation of international guidelines for diagnosis and treatment of rheumatism in children（Ⅱ）：Interpretation of the classification criteria of juvenile idiopathic arthritis LIU Da-wei*，LIANG Fang-fang，TANG Xue-mei 2020, 35(4): 252-255.  DOI: 10.19538/j.ek2020040602 Abstract ( )   Juvenile idiopathic arthritis is a group of chronic rheumatoid disorders in children，which has a high heterogeneity in the clinical features and prognosis，so it is extremely important to establish an effective classification criteria for the disease treatment and clinical research. The 2001 International League of Associations for Rheumatology（ILAR） classification criteria for JIA has been accepted and used worldwide for decades. With the more intensive research in the clinical characters and pathogenesis，and for the better harmonization with adult definition，the Pediatric Rheumatology International Trials Organization（PRINTO） revised the criteria in 2018，which rationality and practicality needs further validation. We interpret the two classification criteria，aiming at provide assistance in JIA diagnosis and differentiation.

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Interpretation of international guidelines for diagnosis and treatment of rheumatism in children（Ⅲ）：The new classification criteria of idiopathic inflammatory myopathy and update on the diagnostic points of juvenile dermatomyositis HU Jian 2020, 35(4): 255-258.  DOI: 10.19538/j.ek2020040603 Abstract ( )   Juvenile dermatomyositis（JDM） is a rare，life-threatening systemic autoimmune disease，which is one of the categories of idiopathic inflammatory myopathy（IIM） and juvenile IIM（JIIM）. JDM/JIIM affects not only muscles and skin，but also other system organs（lungs，heart and intestines），which may be underestimated. The studies on the latest pathogenesis and large collaborative research networks have greatly facilitated the identification of the subtypes，standardized assessment and treatment of JDM/IIM. Some immune risk factors have been defined，and potential pathways may be found in the pathogenesis of JDM/IIM. In the new criteria，the use of standardized assessments，myositis-associated and myositis-specific antibody subgroups and disease severity revealed the value of these factors. These validation will contribute to the standardization of assessing disease activity and damage，and facilitate the development of targeted therapies. These are the aspects for pediatric rheumatologists to pay attention to.

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Interpretation of international guidelines for diagnosis and treatment of rheumatism in children（Ⅳ）：Interpretation of diagnosis and treatment guideline for pediatric rheumatic diseases complicated with macrophage activation syndrome SUN Li 2020, 35(4): 259-262.  DOI: 10.19538/j.ek2020040604 Abstract ( )   Macrophage activation syndrome（MAS） is a secondary hemophagocytic lymphohistiocytosis，which is a common and fatal complication of rheumatic diseases in children. The most common primary disease of MAS is systemic juvenile idiopathic arthritis（SJIA），about 10% of which can develop MAS. Early diagnosis and rapid initiation of immunosuppression are the key to the effective treatment for MAS. With the deep understanding of the pathophysiology of MAS and the emergence of new therapies，a wide range of immunosuppressive therapies are being replaced by targeted anti-cytokine therapies. With the improvement of early recognition awareness of MAS in children’s rheumatic diseases，and through combination with the use of effective and less toxic cytokine targeted therapy，the mortality of such deadly diseases can be reduced.

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Interpretation of international guidelines for diagnosis and treatment of rheumatism in children（Ⅴ）：Evaluation of the classification and diagnostic criteria of Sj?gren’s syndrome in childhood YU Hai-guo 2020, 35(4): 262-264.  DOI: 10.19538/j.ek2020040605 Abstract ( )   Sj?gren’s syndrome（SS） is a idiopathic systemic autoimmune disease affecting the exocrine glands and extraglandular organs with an increased incidence of lymphoma. The occurrence of SS is rare in childhood .The clinical presentation of childhood Sj?gren’s syndrome may differ from the clinical presentation in adulthood，which could be most likely to be misdiagnosed or delayed in diagnosis. With increasing researches and deeper understanding of the disease，the classification criteria for adult SS are constantly being adjusted and revised. No specific diagnosis criteria have been established for SS in childhood. This paper reviews and evaluates several classification criteria of adult SS and the proposals for diagnosis criteria for childhood SS in order to provide help for the early diagnosis and related researches of childhood SS.

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Interpretation of international guidelines for diagnosis and treatment of rheumatism in children（Ⅵ）：Interpretation of classification criteria of ANCA-associated vasculitis in children WU Xiao-chuan，XU Li-yun 2020, 35(4): 265-268.  DOI: 10.19538/j.ek2020040606 Abstract ( )   Antineutrophil cytoplasmic antibody（ANCA）-associated vasculitis is a necrotizing vasculitis with few or no immune deposits，predominantly affecting small blood vessels（i.e. arterioles，venules and capillaries），including microscopic polyangiitis（MPA），granulomatosis with polyangiitis（GPA） and eosinophilic granulomatosis with polyangiitis（EPGA）. AAVs are rare diseases in children，the clinical manifestations are heterogeneous，easily to be missed and misdiagnosed；however，AAV may be organ- or life-threatening，and reasonable classification is of great significance for the diagnosis and treatment of vasculitis. The classification criteria of AAV is being constantly updated and improved due to the development of disease cognition and detection methods. This article compares different classification criteria of AAV.

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Interpretation of international guidelines for diagnosis and treatment of rheumatism in children（Ⅶ）：Interpretation of the classification criteria of childhood Takayasu arteritis XU Meng，LIU Jing-yue，YANG Si-rui 2020, 35(4): 268-273.  DOI: 10.19538/j.ek2020040607 Abstract ( )   Takayasu arteritis（TA） is an immune-mediated，chronic，granulomatous，inflammatory disease that predominantly affects the aorta and its major branches. The diagnosis strategy of childhood TA currently being adopted is the classification criteria developed by the European League Against Rheumatism， the Pediatric Rheumatology International Trials Organization and the Pediatric Rheumatology European Society. Imaging is crucial for the diagnosis of TA and the evaluation of disease activity. Consensus published by Single Hub and Access Point for Paediatric Rheumatology in Europe（SHARE） is the further supplement to the classification criteria.

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Interpretation of international guidelines for diagnosis and treatment of rheumatism in children（Ⅷ）：Interpretation of the classification criteria of juvenile-onset systemic sclerosis and the progress in diagnosis and treatment ZHENG Rong-jun，LU Mei-ping 2020, 35(4): 273-277.  DOI: 10.19538/j.ek2020040608 Abstract ( )   Juvenile-onset systemic sclerosis（JSSc） is a rare pediatric rheumatic disease characterized by thickening and fibrosis of the skin and multiple organs involvement. The diagnosis and treatment are difficult because of its insidious onset and the pediatricians’ less clinical experience，which causes the delay in the diagnosis and treatment and the non-standard medication，affecting the prognosis. So，we review and interprete the classification criteria，diagnosis and treatment of the disease in this paper.

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Interpretation of human inborn errors of immunity:2019 update on the classification from the International Union of Immunological Societies Expert Committee QIU Lu-yao，AN Yun-fei，ZHAO Xiao-dong 2020, 35(4): 278-283.  DOI: 10.19538/j.ek2020040609 Abstract ( )   Primary immunodeficiency disease is a group of diseases caused by genetic factors and characterized by recurrent，refractory infections. Classification of primary immunodeficiency disease is updated every 2 or 3 years. In 2017，the classification first introduced the term of inborn error of immunity for replacement，but the term "primary immunodeficiency disease" is still in use today. The latest version of the classification has been published by the International Union of Immunological Societies Expert Committee on January 17，2020，including 430 inborn errors of immunity（divided into 10 categories），based on which this article is aimed to interpret the adjustment of the classification.

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Progress in the diagnosis and treatment of Behcet’s syndrome HE Ting-yan，YANG Jun 2020, 35(4): 284-288.  DOI: 10.19538/j.ek2020040610 Abstract ( )   Beh?et syndrome（BS） is a relatively rare，chronic and systemic vascular inflammatory disease，mainly manifested as recurrent oral ulcers，genital ulcers，cutaneous and ocular damage. This article will comprehensively discuss BS in its pathogenesis，clinical manifestations，auxiliary examination，diagnosis and differential diagnosis，therapies and prognosis.

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Clinical phenotypes of epilepsy related to CHD2 gene mutations：A report of 18 patients CHEN Jiao-yang*，ZHANG Yue-hua， ZHANG Jing， et al 2020, 35(4): 289-294.  DOI: 10.19538/j.ek2020040611 Abstract ( )   Objective　To summarize the characteristics of phenotypes of epilepsy related to CHD2 gene mutation. Methods　A total of 18 patients of epilepsy patients with CHD2 gene mutations were collected from Jan 2014 to Mar 2019 in Peking University First Hospital. Their phenotypes were analyzed. Results　In 18 patients，the seizure onset age ranged from 3 months to 10 years 5 months，and the median age was 26.5 months. In the course of epilepsy，Generalized tonic-clonic seizures（GTCS） were observed in 11 patients，myoclonic seizures in 7 patients，focal seizures in 5 patients，atonic seizures in 4 patients and atypical absence in 4 patients. Myoclonic-atonic seizures were observed in 3 patients，and epileptic spasm in 2 patients. Video-Electroencephlogram（VEEG） were abnormal in 16 patients，all of them had epileptiform discharges during interictal phase. Eight patients were captured clinical seizures by VEEG. VEEG were normal in two patients. Motor and mental retardation presented in 15 patients. The autism features occurred in seven patients. Two patients were diagnosed with epilepsy with myoclonic-atonic seizures，two with Lennox-Gastaut syndrome，two with febrile seizures plus，and one with West syndrome. The age of the last follow-up ranged from 3 years 5 months to 18 years. Seizures were controlled more than half a year in 10 patients，and valproate and levetiracetam were effective drugs for epilepsy ralated to CHD2 gene mutations. Conclusion　Seizure types are various in epilepsy related to CHD2 gene mutations. More than half patients have multiple seizure types. Generalized seizures and myoclonic seizures are common. Most patients have developmental delay. More than half of the patients achieve seizure-free.

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Clinical analysis and literature review of 10 patients with recurrent fever and MEFV gene mutation YAN Shi*，TANG Xue-mei，ZHANG Yu，et al 2020, 35(4): 295-300.  DOI: 10.19538/j.ek2020040612 Abstract ( )   Objective　To explore the key points of diagnosis for familial Mediterranean fever（FMF） and the genotype-phenotype correlations. Methods　The genetic testing and clinical manifestations of 10 patients with MEFV gene mutation and recurrent fever were retrospectively analyzed. The key points of diagnosis of familial Mediterranean fever（FMF） and the genotype-phenotype correlations were summarized by reviewing related articles. Results　Four MEFV gene mutations were identified in 10 patients，including G304R，E148Q，P369S，and R408Q. In 10 patients，4 cases had homozygous mutation（40.0%），2 cases had heterozygous mutation（20.0%），and 4 cases had complex mutation（40.0%）. Nine of the 10 patients had recurrent fever，and one had recurrent suppurative tonsillitis. According to the criteria of Tel Hashomer，1 patient was highly suspected of having FMF，and 8 patients had clinically suspected FMF，while on the basis of the Pediatric Standard of Turkish，7 of the 10 patients had clinical diagnosis of FMF. Conclusion　FMF is a clinical diagnosis，which can be supported but not excluded by genetic testing. Patients with M694V homozygous mutation are more at risk of early onset，developing a severe phenotype with very high probability；while the pathogenicity of E148Q is controversial and，as the only mutation，does not support the diagnosis of FMF. The incidence of FMF in Chinese children may be under-estimated，so more and further researches are still needed.

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Cytomegalovirus gastroenteritis in immunocompetent children：A systematic review ZHANG Li-yuan*，LI Fu-rong，GONG Yi-ning，et al 2020, 35(4): 301-306.  DOI: 10.19538/j.ek2020040613 Abstract ( )   Objective　To investigate the clinical characteristics，auxiliary examinations and treatment of immunocompetent children with CMV gastroenteritis，and to provide reference for the clinical diagnoises and treatment. Methods　A systematic literature search was conducted in 4 Chinese databases and 6 English databases. The searching time was from their inception to Jan.1，2019. The data was extracted according to inclusion and exclusion criteria，and SPSS was used to analyze the findings. Results　A total of 30 case reports met inclusion criteria and 33 patients were analyzed including 22 boys and 11 girls. About 75.8%（25 cases） patients were no more than 3 months. About 83.3%（10/12） of mothers were detected CMV antibody or DNA in their milk or serum. The most common gastrointestinal symptom was diarrhea（29，87.9%）. A total of 22（66.7%） patients underwent endoscopy， and no obvious lesion was observed under endoscope in 6 patients（27.3%）. HE staining and viral nuclear acid examination showed a positive rate of 70.0%（21 cases） and 95.3%（20 cases），respectively. Twenty patients（60.1%） received antiviral therapy. Clinical course ranged from 1 week to 10 months（at an average of 8.7 weeks） and the survival rate was 97.0%（32 cases）. Conclusion　Maternal breastfeeding may be the most probable way of CMV transmission in children. CMV infection should be considered in the differential diagnosis of unexplained intractable diarrhea in children. Gastrointestinal endoscopy and biopsy are recommended in case of misdiagnosis. Moreover，when and how to antiviral therapy need further study.

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Clinical features and gene analysis of Mendelian susceptibility to mycobacterial disease due to mutations in IL-12RB1 in two children WEI Qi-jiao，WANG Wei，WANG Chang-yan，et al 2020, 35(4): 307-310.  DOI: 10.19538/j.ek2020040614 Abstract ( )   Objective　IL-12Rβ1 deficiency is a rare immunodeficiency syndrome caused by biallelic mutations in IL12RB1. This study aims to present the clinical features and genetic characteristics of two Chinese children who presented IL12RB1 mutation. Methods　Mutation analyses were done by sequencing and DNA was isolated from peripheral blood samples. We also present the clinical features and review the literature. Results　Two children were boys of 11 months and 13 months old. They were vaccinated with BCG after birth. The ipsilateral axillary lymph nodes were found 3 months after vaccination. The pathogen examination showed the growth of acid-fast bacilli. Both denied the history of tuberculosis exposure. The results of gene analysis showed IL-12RB1 complex heterozygous gene mutations，which were c.1561C＞T，p.R521X；c.632G＞C，p.R211P；c.339-340 del CT，p.L113Lfs*15，and c.1791+2T＞G. Among them，c.339-340 del CT，p.L113Lfs*15 had not been reported before. Conclusion　For children who have infective dissemination after BCG vaccination，primary immunodeficiency gene detection should be performed. The identification of related gene mutations can provide a basis for early treatment and genetic counseling.

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Relationship of altered platelets and coagulation biomarkers with disease activity in pediatric inflammatory bowel disease ZHONG Yao-yao，GUAN De-xiu，MEI Tian-lu，et al 2020, 35(4): 311-314.  DOI: 10.19538/j.ek2020040615 Abstract ( )   Objective　To investigate the changes in the platelet parameters and coagulation biomarkers in pediatric inflammatory bowel disease（IBD），and to determine the correlation between these biomarkers and disease activity in IBD. Methods　Totally 75 children with IBD were chosen as research subjects，who were treated in Beijing Children’s Hospital，Capital Medical University from January 1，2015 to June 30，2018，of whom 40 were with Crohn’s disease（CD） and 35 with ulcerative colitis （UC）；50 healthy children were included as controls.?Clinical data，platelet count（PLT），mean platelet volume（MPV），plateletcrit（PCT），platelet distribution width（PDW），prothrombin time（PT），fibrinogen（FIB），and activated partial thromboplastin time（APTT） were collected and restrospectively analyzed.?The relationship between these changes and the disease activity was studied. Results　A significant increase in PLT，PCT，FIB，PT?and a significant decrease in MPV were noted in patients with active CD and UC compared with healthy control（P＜0.05）. PLT and PCT were significantly higher in patients in CD remission than in healthy controls，the PDW was significantly higher in patients in UC remission than in healthy controls（P＜0.05）. The children with CD had a higher platelet count and PCT and a lower PDW?than children with UC. Further analysis showed that PLT number，MPV and PDW were correlated with disease activity in CD children（r＝0.351，-0.361，-0.651，P＜0.05），while in UC children，PLT number，PDW and PCT were correlated with disease activity（r＝0.529，-0.354，0.485，P＜0.05）. Conclusion　Children with CD and UC have an increase in PLT，PCT，PT，FIB and a decrease in MPV and PLT，MPV，PDW，PCT are associated with disease activity in patients with IBD.

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Report of 3 cases of adenylosuccinate lyase deficiency and the literature review KANG Tian，ZHANG Yue-hua，CHEN Jiao-yang 2020, 35(4): 315-318.  DOI: 10.19538/j.ek2020040616 Abstract ( )

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Progress in the diagnosis and treatment of progressive familial intrahepatic cholestasis LI Xue-song，SHU Sai-nan，HUANG Zhi-hua 2020, 35(4): 319-323.  DOI: 10.19538/j.ek2020040617 Abstract ( )

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Research progress in the relationship of gut microbiota with oral tolerance and cow’s milk protein allergy and its mechanism ZHANG Wei，GUO Hong-wei，LIU Xiang-zeng，et al 2020, 35(4): 324-328.  DOI: 10.19538/j.ek2020040618 Abstract ( )