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06 January 2018, Volume 33 Issue 1 Previous Issue    Next Issue

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Action plan for rational use of antimicrobials for Chinese children（2017—2020） National Center for Children’s Health，National Clinical Research Center of Respiratory Disease，Pediatric Society of Chinese Medical Association，et al 2018, 33(1): 1-5.  DOI: 10.19538/j.ek2018010601 Abstract ( )

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Meeting summary of the 10th Congress of the World Society for Pediatric Infectious Diseases HUANG Wen-xian，ZHENG Yue-jie，YANG Yong-hong 2018, 33(1): 6-7.  DOI: 10.19538/j.ek2018010602 Abstract ( )

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Raising awareness on monogenic autoinflammatory diseases SONG Hong-mei 2018, 33(1): 8-10.  DOI: 10.19538/j.ek2018010603 Abstract ( )   The term autoinflammatory diseases（AIDs） was proposed in 1999 to describe a group of disorders of the innate immune system characterized by recurrent episodes of inflammation without a known origin，which are frequently caused by genetic mutations in genes encoding proteins involved in the pathways of the inflammation，and follow Mendelian inheritance. At present more than 20 monogenic AIDs have been reported，of which clinical features include recurrent fever，rashes，serositis，myalgia，arthritis，meningitis，uveitis，lymphadenopathy and splenomegaly. Inflammatory markers such as leucocyte count，erythrocyte sedimentation rate（ESR） and C-reactive protein（CRP） are almost elevated in all AIDs patients. AIDs should be suspected and genetic testing should be performed in specialized laboratories when a child is presented with the above clinical manifestation that cannot be explained by other reasons（such as infection or malignant tumor）. It is noteworthy that mutation in a gene could cause different clinical phenotypes，on the other hand，a clinical phenotype could be caused by several different genes. The interpretation of gene results should be based on genetic knowledge，combined closely with clinical phenotypes，especially for some mutations with high prevalence in the population.

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Cryopyrin-associated periodic syndromes SONG Hong-mei 2018, 33(1): 11-13.  DOI: 10.19538/j.ek2018010604 Abstract ( )   Cryopyrin-associated periodic syndromes（CAPS），also known as cryopyrinopathy，includes three kinds of diseases：familial cold autoinflammatory syndrome（FCAS），Muckle-Wells syndrome（MWS） and neonatal onset multisystem inflammatory disease（NOMID）/chronic infantile neurological cutaneous and articular syndrome（CINCA）. CAPS are autosomal dominant disorders caused by mutations in the NLRP3（NOD-like receptor 3，also named CIAS1），located in chromosomal position 1q44 and encoding the cryopyrin protein. The clinical characteristics of CAPS are recurrent systemic inflammation，manifested with fever，arthralgia and urticaria，and may affect multiple systems and organs，such as skin，muscles，bones，joints，eyes，ears and central nervous system（CNS）. The severity of the 3 subtypes from mild to severe was FACS，MWS and NOMID/CINCA respectively. Interleukin（IL）-1 inhibitor could effectively control the progress of the disease，and should be applied as soon as possible after definite diagnosis.

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Pediatric  fever， aphthous  stomatitis， pharyngitis and  adenitis ZHANG Zhi-yong，ZHAO Xiao-don 2018, 33(1): 14-17.  DOI: 10.19538/j.ek2018010605 Abstract ( )   Periodic fever-aphthous stomatitis-pharyngitis-adenitis（PFAPA） syndrome is the most frequent cause of recurrent fevers in childhood and presents with the cardinal symptoms of periodic fever，aphthous stomatitis，pharyngitis，and adenitis typically before 5 years old. The pathogenesis of PFAPA is still unknown and theories about the pathogenesis of PFAPA include faulty innate immunologic response with dysregulated T-cell activation. The potential hereditary nature of PFAPA is still disputed and the Mediterranean fever（MEFV） gene mutation，implicated in familial Mediterranean fever（FMF），has a possible association with PFAPA. It appears to modify disease severity. Diagnostic criteria include the traditional clinical signs，as well as the following biomarkers：elevated C-reactive protein，vitamin D，CD64，C-X-C motif ligand 10（CXCL10） and other nonspecific inflammatory mediators. Because PFAPA is self-limited and benign，there is no certain treatment model. Treatment for PFAPA includes a single dose of corticosteroids，tonsillectomy，and most recently，interleukin 1 inhibitors. Treatment options must be specific to the patient. More large cohort studies are needed to explore the inhereditary nature and specific biomarkers of PFAPA，to standardize the diagnosis and treatment process in order to improve the life quality of the children.

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Mevalonate kinase deficiency YANG Jun，WENG Ruo-hang 2018, 33(1): 18-22.  DOI: 10.19538/j.ek2018010606 Abstract ( )   Mevalonate kinase deficiency（MKD） is a rare autosomal recessive autoinflammatory disease. There are two phenotypes of MKD based on the degree of the mevalonate kinase（MVK） deficiency and clinical symptoms，including hyperimmunoglobulinemia D with periodic fever syndrome（HIDS）and mevalonic aciduria（MA）. This article will systematically review  the pathogenesis，manifestations，diagnosis，treatment，and prognosis of this rare disease.

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Advances in tumor necrosis factor receptor-associated periodic syndrome SUN Jin-qiao，WANG Xiao-chuan 2018, 33(1): 23-25.  DOI: 10.19538/j.ek2018010607 Abstract ( )   Tumor necrosis factor receptor-associated periodic syndrome （TRAPS） is a kind of autoinflammatory disease due to TNFRSF1A gene mutation. The clinical manifestations are diversified，including fever，myalgia，joint pain，rash，etc. In this review we summarize the research advances in this disease in recent years

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Advances in research of Blau syndrome of children LI Cai-feng 2018, 33(1): 26-29.  DOI: 10.19538/j.ek2018010608 Abstract ( )   Blau syndrome（BS）is a monogenic disease resulting from mutations in the NOD2. It is characterized by the triad of granulomatous polyarthritis，dermatitis and uveitis with an onset age before five years. Takayasu’s arteritis，granuloma in liver and spleen and kidney are often observed in Blau syndrome. Diagnosis is made on the basis of pathological biopsy of skin or synovium. The mutation of NOD2 can also confirm the diagnosis. The treatment for Blau syndrome includes glucocorticoid，nonsteroidal anti-inflammatory drug and immunosuppressor. Early treatment with TNF-α inhibitor for patients with iridocyclitis and Takayasu’s arteritis can improve the prognosis.

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Aicardi-Goutières syndrome HE Ting-yan，YANG Jun 2018, 33(1): 29-33.  DOI: 10.19538/j.ek2018010609 Abstract ( )   Aicardi-Goutières syndrome（AGS） is a rare group of genetically determined disorders mainly with neurological and skin involvement. The main clinical features include multiple intracranial calcification，white matter changes，chronic lymphocytosis in cerebrospinal fluid（CSF），chilblains or other skin lesions. Seven pathogenic genes have been identified，including TREX1，RNASEH2B，RNASEH2C，RNASEH2A，SAMHD1，ADAR1 and IFIH1. This article will comprehensively discuss AGS in its pathogenesis，clinical manifestations，auxiliary examination，diagnosis and differential diagnosis，therapies and prognosis.

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Research advances in proteasome-associated autoinflammatory syndrome XU Li，TANG Xue-mei 2018, 33(1): 33-36.  DOI: 10.19538/j.ek2018010610 Abstract ( )   With the insights into autoinflammatory diseases，the mutations in proteasome cause a syndrome that has previously been referred to as Nakajo-Nishimura syndrome（NNS）， Japanese autoinflammatory syndrome with lipodystrophy（JASL），joint contractures，muscle atrophy，microcytic anemia，and panniculitis-induced childhood-onset lipodystrophy（JMP） syndrome，or chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature（CANDLE）. These disease spectrum is referred to as  proteasome-associated autoinflammatory syndrome（PRAAS）. In contrast to what occurs in many currently known interleukin-1 mediated autoinflammatory diseases，mutations in proteasome lead to proteasome dysfunction and chronic typeⅠIFN production，and which have no response to IL-1 inhibition treatment. The JAK1/JAK2 inhibitor which blocks IFN signaling may be effective in patients with PRAAS.

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Inflammatory bowel disease and immunodeficiency in children SUN Li， LI Yi-fan 2018, 33(1): 37-41.  DOI: 10.19538/j.ek2018010611 Abstract ( )   Inflammatory bowel disease（IBD） is a chronic and recurrent gastrointestinal inflammatory disease that can present at any age. There has been a dramatic increase in the incidence of pediatric IBD over the past 50 years. Very-early-onset IBD（VEO-IBD） is defined as onset of IBD within the first 6 years of life，which constitutes 4% to 10% of pediatric IBD cases. It is generally accepted that many patients with VEO-IBD are associated with a greater degree of genetic susceptibility，and many of these diseases are classified as primary immunodeficiencies（PID）. Monogenic defects have been found to alter intestinal immune homeostasis via several mechanisms，including dysfunction of innate immune system，dysfunction of adaptive immunity or disruption of the epithelial barrier. Due to the differences in the prognosis and medical management，an early diagnosis of an IBD combined with immunodeficiency should be made via genetic analysis. A proper treatment can be selected to achieve the effect of early intervention，thus improving the prognosis.

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Autoinflammatory disorders and macrophage activation syndrome：Hand-in-hand or affinity HU Jian，LI He 2018, 33(1): 42-45.  DOI: 10.19538/j.ek2018010612 Abstract ( )   Monogenic autoinflammatory disorders（AIDs） is a group of heterogeneous diseases，even if macrophage activation syndrome（MAS） and AIDs share as well as heterogeneous pathogenetic scenes，which have the similar clinical features on the occurrence of MAS in the patient with overblown release of proinflammatory cytokines in the natural history. Is the relation between AIDs and MAS？

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Correlation analysis between serum vitamin D levels and disease activity as well as bone mineral density in children with juvenile idiopathic arthritis LIU Ming-yue，TANG Xue-mei，ZHANG Yu，et al 2018, 33(1): 46-50.  DOI: 10.19538/j.ek2018010613 Abstract ( )   Objective　To assessed serum level of 25（OH）D3 in children with juvenile idiopathic arthritis, in order to find the association between the vitamin D and disease activity as well as bone mineral density. Methods　We evaluated 110 patients（58 females and 52 males，mean age being 9.04±3.37 years） that fulfilled the 2011 ILAR criteria for juvenile idiopathic arthritis. Patients underwent laboratory tests of serum25（OH）D3，plasma parathyroidhormone and dual-energyx-ray absorptiometry examination. JIA patients were categorized by ACR standard of disease status in 2011，and the disease activity was measured by using JADAS-27. We analyzed the relationship between serum 25（OH）D3 level and other indexes. Results　The mean serum 25（OH）D3 level of 110 JIA patients was（49.8±15.3） μmol/L. Vitamin D deficiency was detected in 59 patients（53.6%） and insufficiency in 43 patients（39.1%）. Patients with active disease had significantly reduced serum 25（OH）D3 levels compared to patients with inactive disease（t＝5.162，P＜0.001），but there was no significant association between serum 25（OH）D3 level and JADAS-27（r＝-0.72，P＞0.05）. JIA patients with vitamin D deficiency showed a significantly lower bone mineral density than those with normal 25（OH）D3 level（t＝3.791，P＜0.05）. Patients using glucocorticoid showed significantly lower 25（OH）D3 level than those who never used glucocorticoid（t＝2.823，P＜0.01）. Conclusion　JIA patients have reduced serum 25（OH）D3，particularly those with active disease or/and using glucocorticoid. JIA patients with vitamin D deficiency showed a significantly lower bone mineral density.

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Positron emission computed tomography findings of neuropsychiatric systemic lupus erythematosus in children MA Ming-sheng*，CUI Rui-xue，SONG Hong-mei，et al 2018, 33(1): 51-54.  DOI: 10.19538/j.ek2018010614 Abstract ( )   Objective　To analyse the positron emission computed tomography（PET/CT） findings of neuropsychiatric systemic lupus erythematosus（NPSLE） in children. Methods　Patients diagnosed with NPSLE treated at Department of Pediatrics，Peking Union Medical College Hospital from April 2012 to February 2014 were recruited. PET/CT using F-18-labelled fluorodeoxyglucose（18F-FDG） was performed in patients with NPSLE，and the results were analyzed. Results　A total of 19 patients received 18F-FDG PET/CT and 13 of them were females. Age was from 7to14 years and median age was 11.3 years. The most common neuropsychiatric manifestation was headache（8/19）， followed by seizure（7/19）， cognition dysfunction（2/19），psychiatric disease（1/19） and ataxia（1/19）. All patients under MRI examination，and only 4 of them were abnormal. 18F-FDG PET/CT revealed significant glucose hypometabolism in all patients. The temporal lobe（17/19） was the most susceptible brain regions，followed  by the parietal lobe（16/19），occipital lobe（14/19） and frontallobe（10/19）. In contrast，glucose hypermetabolism was detected in basal ganglia（8 patients） and thalamus（3 patients）. Conclusion　PET reveals significant glucose hypometabolism with or without local hypermetabolism in patients with NPSLE.

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MHC class Ⅱ-deficiency caused by CIITA gene mutation：A report of two cases and literature review　　 CHEN Qiu-yu，WANG Wen-jie，SUN Jin-qiao，et al 2018, 33(1): 55-59.  DOI: 10.19538/j.ek2018010615 Abstract ( )   Objective　To summarize and analyze the clinical characteristics，diagnosis and treatment of children with Major Histocompatibility Complex Class Ⅱ（MHC-Ⅱ） deficiency，in order to promote the awareness of this disease. Methods　Retrospectively analyze the clinical features，immunological functions，protein expressions and genetic profiles of 2 children with MHC-Ⅱ deficiency identified from Children’s Hospital of Fudan University，and discuss the method of diagnosis and treatment by reviewing related literatures. Results　（1）Both of the patients were male and had a history of recurrent infection，and the age of onset was 4 years and 2 months，respectively；the age of diagnosis was 8 years and 3 months.Both had pulmonary infection；one had diarrhea and one was infected after BCG vaccination. Both were susceptible to fungi and virus，and even under the treatment of broad spectrum antibiotics and antifungal drugs，they were both dead from severe infection at the age of 8y and 3m，respectively. （2）One had neutropenia，two developed anemia，one had hypogammaglobulinemia， and both had severe CD4 T-cell lymphopenia. （3）Genetic analysis of CIITA showed that P1 had compound heterozygous mutations，with c.531C＞A mutation in exon 7（inherited from father） and c.2408C＞A mutation in exon 11（inherited from mother）；P2 carried a homozygous nonsense mutation，with c.1161G＞A in exon 11 as well. （4）Due to severe infection，both patients failed to undergo the HSCT. Conclusion　Patients with MHCⅡ deficiency usually experience early onset and are susceptible to various pathogens. Conventional anti-infection treatment is not effective for them. Early diagnosis and HSCT is the only effective way for them to survive；gene therapy is still in the research stage.

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Henoch-Schönlein purpura complicated by pancreatitis in children： Clinical features，treatment and follow-up analysis SHU Jing， CHEN Fang， HE Qiang， et al 2018, 33(1): 60-64.  DOI: 10.19538/j.ek2018010616 Abstract ( )   Objective　To investigate the clinical manifestations，therapeutic methods and follow-up results of children with Henoch-Schönlein purpura（HSP） complicated by pancreatitis. Methods　The clinical data of children with HSP complicated by pancreatitis treated in Beijing Children’s Hospital between Jan 2013 and Jun 2016 were retrospectively analysed. Gender，the onset age，clinical manifestations，laboratory examination，imaging examination，treatment and curative effects were investigated. Results　Totally 18 cases of HSP complicated by pancreatitis were found among all 7217 cases. The incidence of complications was 0.25%. The average onset age was（9.75±3.75） years old. The average level of serum lipase was （220.93±105.22） U/L（reference value 0-39 U/L） and serum amylase was （541.25±170.61） U/L（reference value 0-125 U/L）. Six cases had history of prodromal infection of Mycoplasma pneumoniae；4 cases had anatomical deformity of cholecystic duct and pancreas. All 18 cases were treated effectively with glucocorticoid. The treatment was effective while administration courses was （38.27±9.54） days. The time to resume normal mouth food in take was （5.71±3.43） days  when abdominal pain and vomiting disappeared. Time of serum lipase recovery was 8-50 days and median duration was 27. Time of serum amylase recovery was 2-26 days and median duration was 14. Follow-up lasted for half a year，and 17 cases of patients had good recovery and 1 case had pancreatic pseudocyst on imaging examination. Conclusion　We should pay attention to pancreatitis in HSP patients，especially those who has infection of Mycoplasma pneumoniae or anatomical deformity of cholecystic duct and pancreas. Glucocorticoid is effective. Pancreatin inhibitors are considered as prescription in case of gastrointestinal hemorrhage. Serum lipase and amylase may  fluctulate in increasing the amount of food. The overall prognosis is satisfactory.

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One case of Blau syndrome caused by NOD2 gene mutation and the familial report HAO Jian-yun，ZHOU Zhi-xuan，LAI Jian-ming，et al 2018, 33(1): 65-67.  DOI: 10.19538/j.ek2018010617 Abstract ( )

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Diagnosis and treatment strategy of rapidly progressive interstitial lung disease related to juvenile dermatomyositis LIU Li，HU Jian 2018, 33(1): 68-71.  DOI: 10.19538/j.ek2018010618 Abstract ( )

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Research progress of hyper-IgE syndromes YANG Zhi，YANG Jun，ZHAO Xiao-dong 2018, 33(1): 72-75.  DOI: 10.19538/j.ek2018010619 Abstract ( )

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One case report of endoscopic myotomy in the treatment of children with achalasia YANG Lu，XU Jun-jie，WEI Xu-xia，et al 2018, 33(1): 76-77.  DOI: 10.19538/j.ek2018010620 Abstract ( )

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The cases report of NMOSD with positive AQP4-Ab DU Zeng-yan，ZHANG Dong-qing，YANG Lu，et al 2018, 33(1): 78-80.  DOI: 10.19538/j.ek2018010621 Abstract ( )