Clinical Characteristics and Treatment of Blau Syndrome in Chinese Children-a National Multicenter Study / 罕见病研究

  Objective  To study the demographic and clinical characteristics, correlation of genotype and phenotype and treatment of Blau syndrome to facilitate early diagnosis and timely treatment of Blau syndrome.  Methods  Seventy-two patients with Blau syndrome from 11 centers from May 2006 to April 2022 were retrospectively analyzed, and their general information, clinical data, laboratory examination and treatment medication were collected.  Results  The distribution of patients with Blau syndrome was uniform in geographical north and south of China, and there was no obvious gender bias. The mean age of onset was (14.30±12.81) months, and the age of diagnosis was (55.18±36.22) months. 35% of patients with Blau syndrome happened before 1 year old, and all patients developed before 5 years old. 87.50% (63/72) had granulomatous arthritis, 65.28% (47/72) had rash, 36.11% (26/72) had ocular involvement, 27.78% (20/72) had fever, and 15.28% (11/72) had pulmonary involvement. Arthritic manifestations of Blau syndrome were most at risk, followed by rash, ocular involvement, and fever.The first 25 months of the disease, the risk of developing a rash was the greatest. The risk of developing arthritis was the greatest between 25 months and 84 months. The main mutations were p.R334Q and p.R334W, and patients with p.R334Q mutation had relatively high incidence of fever (35.71%[5/14] vs. 14.29%[1/7], P=0.43) and ocular involvement (42.86%[6/14]vs. 28.57%[2/7], P=0.51). There was a relatively high incidence of rash (85.71%[6/7] vs. 64.29%[9/14], P=0.59) in patients with the p.R334W mutation. Forty-five patients(62.50%)were treated with a combina-tion of glucocorticoid and methotrexate. Twenty-two patients were treated with tumor necrosis factor antagonist in addition to glucocorticoid and methotrexate.  Conclusions  The risk of different clinical manifestations of Blau syndrome from high to low was arthritis, followed by rash, ocular involvement and fever. The main treatment was glucocorticoid combined with methotrexate, to which biological agents could be added.

Research progress in mechanism of necroptosis in acute pancreatitis / 中华危重病急救医学

Acute pancreatitis (AP) is a common and potentially threatening disease of the pancreas, and some patients eventually develop to severe acute pancreatitis (SAP). Symptomatic support therapies such as rehydration therapy and anti-infection are still the main treatments. Lacking specific therapies is the main reason for the high mortality of AP patients, especially those with SAP. Premature trypsinogen activation is the most important pathologic cellular event in the pathogenesis of AP. The release of trypsin can cause self-digestion inside and outside of acinar cells, especially the release of cathepsin B can also cause a caspase-unrelated regulatory cell death (RCD) known as necroptosis, which is closely related to the development and prognosis of AP. Therefore, it is necessary to further study the mechanism of necroptosis in the occurrence and development of AP. This article reviews the mechanism of necroptosis and the research progress related to AP, in an attempt to provide a new understanding of the pathogenesis and treatment of AP, and promote the better target drug development.

A multicenter study of the condition of children′s rheumatic disease associated medical resources in Fujian province / 中华儿科杂志

Objective@#To investigate general condition of children′s rheumatic disease associated medical resources in Fujian Province.@*Methods@#This questionnaire-based survey was conducted in 19 hospitals in Fujian province from December 2, 2018 to May 1, 2019. The questionnaire was designed to survey the general condition of the medical resources and the hospitalization of patients with rheumatic diseases from January 1, 2014 to December 1, 2018.@*Results@#In the 19 hospitals, there were 15 general hospitals and 4 children′s hospitals, and only 5 hospitals had children′s rheumatic specialist clinic. There were only 53-62 beds for rheumatic disease patients in the 19 hospitals, accounting for 1.7%-2.0% of the total inpatient beds (3 137). There are 29 pediatric rheumatologists in total, accounting for 2.6% (29/1 120) of the total pediatricians. In the past five years, 613 patients with rheumatic diseases, accounting for 0.1% (613/625 214) of total hospitalized patients, were treated in these hospitals. Among them, 201 had juvenile idiopathic arthritis, 295 had systemic lupus erythematosus, 39 had dermatomyositis, 7 had scleroderma, and 57 had inflammatory bowel disease, 9 had Sjogren′s syndrome, 5 had Behcet′s disease, and none had overlap syndrome or mixed connective tissue disease.@*Conclusion@#The medical resources of children rheumatic diseases in Fujian province are insufficient which need to be developed.

Gitelman syndrome caused by SLC12A3 gene mutations: a report of pedigree analysis / 临床儿科杂志

Objective To explore the gene diagnosis of Gitelman syndrome.Methods The clinical data of a child with Gitelman syndrome were retrospectively analyzed along with gene detection results of his elder sister and parents.Results A 6-year-old boy was hospitalized for fever and hypokalemia.Gene detection of SLC12A found a new locus mutation of EXON21 c.2522A＞G p.(Asp841Gly) and a heterozygosis of EXON16 c.1946C＞T p.(Thr649Met).The diagnosis of Gitelman syndrome was confirmed.His mother carried a heterozygosis mutation of EXON21 c.2522A＞G p.(Asp841Gly),while his father and elder sister carried a heterozygosis mutation of EXON16 c.1946C＞T p.(Thr649Met).Conclusion Gene detection of SLC12A is helpful in the diagnosis of Gitelman syndrome.The newly discovered mutation of SLC12A3 gene has enriched the mutation spectrum of Gitelman syndrome.