Zhonghua er ke za zhi = Chinese journal of pediatrics最新文献

{"title":"[SRAS-CoV-2 infection with complications of acute necrotizing encephalopathy, acute liver failure, myositis and kidney injury in a child].","authors":"H L Chang, H Tian, X S Wang, W M Chen, Q Shen, Y Lu, M Zeng","doi":"10.3760/cma.j.cn112140-20230205-00076","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230205-00076","url":null,"abstract":"患儿　女，2岁7月龄，因“发热3 d，抽搐1次，肝酶、肌酶及肌酐升高1 d”就诊，确诊为新型冠状病毒感染并发急性坏死性脑病、急性肝衰竭等多器官损伤，经血液净化、激素抗炎及对症支持治疗2周后，患儿好转出院。患儿后因肝酶升高行肝穿刺病理检查示肝炎伴胆小管损伤，予保肝治疗，病程6周时肝功能恢复正常。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10300841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Research progress of non-tuberculous mycobacterial pulmonary disease in children].","authors":"C Y Yuan, S Y Zhao, H M Li","doi":"10.3760/cma.j.cn112140-20221219-01055","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20221219-01055","url":null,"abstract":"近年来，非结核分枝杆菌（NTM）感染呈快速增长趋势。该病可侵犯肺部引起NTM肺病（NTM-PD），尤其易发生在囊性纤维化和免疫功能受损的儿童中。临床表现缺乏特异性，影像学多表现为结节、空洞、树芽征、支气管扩张和肺门或纵隔淋巴结肿大。诊断需要通过呼吸道标本分离培养出分枝杆菌并进行菌种鉴定。儿童NTM-PD治疗方案根据感染菌种、药物敏感性试验和参照成人指南制定。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10300850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Further standardize the diagnosis and treatment of <i>Helicobacter pylori</i> infection in children].","authors":"M Z Jiang","doi":"10.3760/cma.j.cn112140-20230510-00326","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230510-00326","url":null,"abstract":"幽门螺杆菌（Hp）感染通常发生于儿童期并持续至成年，与慢性胃炎、消化性溃疡、胃癌等的发生密切相关。儿童感染Hp的临床表现、治疗方案和疾病转归与成人有所不同，需要进一步规范儿童Hp感染的诊断和治疗。符合治疗指征时首选配对治疗，并强调个体化方案以降低耐药率、减少耐药菌株的产生，提高Hp根除治疗的成功率。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10113962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Efficacy and safety of endoscopic diaphragm incision in children with congenital duodenal diaphragm].","authors":"P Q Wu,&nbsp;P Y Chen,&nbsp;L Ren,&nbsp;L Y Xiong,&nbsp;H W Li,&nbsp;S T Gong,&nbsp;Q Wu,&nbsp;C W Chai,&nbsp;L L Geng","doi":"10.3760/cma.j.cn112140-20230417-00275","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230417-00275","url":null,"abstract":"<p><p><b>Objective:</b> To explore the efficacy and safety of endoscopic diaphragm incision in pediatric congenital duodenal diaphragm. <b>Methods:</b> Eight children with duodenal diaphragm treated by endoscopic diaphragm incision in the Department of Gastroenterology of Guangzhou Women and Children's Medical Center from October 2019 to May 2022 were enrolled in this study. Their clinical data including general conditions, clinical manifestations, laboratory and imaging examinations, endoscopic procedures and outcomes were retrospectively analyzed. <b>Results:</b> Among the 8 children, 4 were males and 4 females. The diagnosis was confirmed at the age of 6-20 months; the age of onset was 0-12 months and the course of disease was 6-18 months. The main clinical manifestations were recurrent non-biliary vomiting, abdominal distension and malnutrition. One case complicated with refractory hyponatremia was first diagnosed with atypical congenital adrenal hyperplasia in the endocrinology department. After treatment with hydrocortisone, the blood sodium returned to normal, but vomiting was recurrent. One patient underwent laparoscopic rhomboid duodenal anastomosis in another hospital but had recurred vomiting after the operation, who was diagnosed with double duodenal diaphragm under endoscope. No other malformations were found in all the 8 cases. The duodenal diaphragm was located in the descending part of the duodenum, and the duodenal papilla was located below the diaphragm in all the 8 cases. Three cases had the diaphragm dilated by balloon to explore the diaphragm opening range before diaphragm incision; the other 5 had diaphragm incision performed after probing the diaphragm opening with guide wire. All the 8 cases were successfully treated by endoscopic incision of duodenal diaphragm, with the operation time of 12-30 minutes. There were no complications such as intestinal perforation, active bleeding or duodenal papilla injury. At one month of follow-up, their weight increased by 0.4-1.5 kg, with an increase of 5%-20%. Within the postoperative follow-up period of 2-20 months, all the 8 children had duodenal obstruction relieved, without vomiting or abdominal distension, and all resumed normal feeding. Gastroscopy reviewed at 2-3 months after the operation in 3 cases found no deformation of the duodenal bulbar cavity, and the mucosa of the incision was smooth, with a duodenal diameter of 6-7 mm. <b>Conclusion:</b> Endoscopic diaphragm incision is safe, effective and less invasive in pediatric congenital duodenal diaphragm, with favorable clinical applicability.</p>","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10113966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Long-term outcomes of childhood steroid-sensitive nephrotic syndrome].","authors":"D J Ying,&nbsp;M J Jiang,&nbsp;L Z Chen,&nbsp;L P Rong,&nbsp;J Y Wu,&nbsp;Y Mo,&nbsp;X Y Jiang","doi":"10.3760/cma.j.cn112140-20221105-00938","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20221105-00938","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the long-term outcomes and risk factors in children with steroid-sensitive nephrotic syndrome (SSNS). <b>Methods:</b> A retrospective cohort study was conducted on newly onset SSNS admitted to the Department of Pediatrics of the First Affiliated Hospital of Sun Yat-sen University from January 2006 to December 2010 and 105 cases with follow-up for more than 10 years were included. Clinical data including general characteristics, clinical manifestation, laboratory tests, treatment and prognosis. The primary outcome was the clinical cure, and the secondary outcomes were relapse or ongoing immunosuppressive treatment within the last 1 year of follow-up and complications at the last follow-up. According to the primary outcome, the patients were divided into clinical cured group and uncured group. Categorical variables were compared between 2 groups using the <i>χ²</i> or Fisher exact test, and continuous variables by <i>t</i> or Mann-Whitney <i>U</i> test. Multiple Logistic regression models were used for multivariate analysis. <b>Results:</b> Of the 105 children with SSNS, the age of onset was 3.0 (2.1, 5.0) years, and 82 (78.1%) were boys, 23(21.9%) were girls. The follow-up time was (13.1±1.4) years; 38 patients (36.2%) had frequently relapsing or steroid-dependent nephrotic syndrome (FRNS or SDNS) and no death or progression to end-stage kidney disease. Eighty-eight patients (83.8%) were clinically cured. Seventeen patients (16.2%) did not reach the clinical cure criteria, and 14 patients (13.3%) had relapsed or ongoing immunosuppressive treatment within the last year of follow-up. The proportion of FRNS or SDNS (12/17 <i>vs.</i> 29.5% (26/88), <i>χ</i>²=10.39), the proportion of treatment with second-line immunosuppressive therapy (13/17 <i>vs.</i> 18.2% (16/88), <i>χ</i>²=21.39), and the level of apolipoprotein A1 at onset ((2.0±0.5) <i>vs.</i> (1.7±0.6) g/L, <i>t</i>=2.02) in the uncured group were higher than those in the clinical cured group (all <i>P</i><0.05). Multivariate Logistic regression analysis showed that patients treated with immunosuppressive therapy had an increased risk of not reaching clinical cure in the long term (<i>OR</i>=14.63, 95%<i>CI</i> 4.21-50.78, <i>P</i><0.001). Of the 55 clinically cured patients who had relapsed, 48 patients (87.3%) did not relapse after 12 years of age. The age at last follow-up was 16.4 (14.6, 18.9) years, and 34 patients (32.4%) were ≥18 years of age. Among the 34 patients who had reached adulthood, 5 patients (14.7%) still relapsed or ongoing immunosuppressive treatment within the last year of follow-up. At the last follow-up, among the 105 patients, 13 still had long-term complications, and 8 patients were FRNS or SDNS. The proportion of FRNS or SDNS patients with short stature, obesity, cataracts, and osteoporotic bone fracture was 10.5% (4/38), 7.9% (3/38), 5.3% (2/38), and 2.6% (1/38), respectively. <b>Conclusions:</b>","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10113969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Phosphoglycerate dehydrogenase deficiency in a child].","authors":"X Y Zhang,&nbsp;C H Ding,&nbsp;S S Ren","doi":"10.3760/cma.j.cn112140-20230219-00113","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230219-00113","url":null,"abstract":"患儿　男，10月龄，因“点头拥抱样动作2个月”就诊。主要表现为智力及运动发育迟缓，婴儿痉挛症和小头畸形。全外显子基因测序提示PHGDH基因c.946-2A>G和c.766G>A，为复合杂合变异，诊断为磷酸甘油酸脱氢酶缺乏，该病临床症状缺乏特异性，按癫痫发作类型选择抗癫痫药物治疗可以部分有效控制发作。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9753147","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[A case of neonatal multi-system Langerhans cell histiocytosis treated by dabrafenib].","authors":"Y Zhu,&nbsp;Q Zhou,&nbsp;Y Yu,&nbsp;Y Cao,&nbsp;C Chen,&nbsp;X W Zhai,&nbsp;J Wang,&nbsp;H S Wang","doi":"10.3760/cma.j.cn112140-20230301-00149","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230301-00149","url":null,"abstract":"患儿　女，8日龄，生后即有皮疹、贫血、白细胞及血小板减少、消化道出血等临床表现。经皮肤、肠黏膜活检，病理及免疫组织化学明确诊断为新生儿多系统朗格汉斯细胞组织细胞增生症，血液、皮肤、肠道同时受累。检测患儿外周血及病理发现BRAF基因V600E位点存在变异。选用BRAF基因V600E变异的抑制靶向药达拉非尼口服治疗。随访至患儿1岁6月龄，未再出现皮疹、贫血、白细胞减少、血小板减少及消化道出血等症状。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9792986","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[A case of combined oxidative phosphorylation deficiency 32 caused by MRPS34 gene variation and literature review].","authors":"M X Shen,&nbsp;X N Ji,&nbsp;F Wu,&nbsp;Y Y Gao,&nbsp;S Feng,&nbsp;L N Xie,&nbsp;P Zheng,&nbsp;Y Y Mao,&nbsp;Q Chen","doi":"10.3760/cma.j.cn112140-20230307-00165","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230307-00165","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinical features and genetic features of combined oxidative phosphorylation deficiency 32 (COXPD32) caused by MRPS34 gene variation. <b>Methods:</b> The clinical data and genetic test of a child with COXPD32 hospitalized in the Department of Neurology, Children's Hospital, Capital Institute of Pediatrics in March 2021 were extracted and analyzed. A literature search was implemented using Wanfang, China biology medicine disc, China national knowledge infrastructure, ClinVar, human gene mutation database (HGMD) and Pubmed databases with the key words \"MRPS34\" \"MRPS34 gene\" and \"combined oxidative phosphorylation deficiency 32\" (up to February 2023). Clinical and genetic features of COXPD32 were summarized. <b>Results:</b> A boy aged 1 year and 9 months was admitted due to developmental delay. He showed mental and motor retardation, and was below the 3^rd percentile for height, weight, and head circumference of children of the same age and gender. He had poor eye contact, esotropia, flat nasal bridge, limbs hypotonia, holding instability and tremors. In addition, Grade Ⅲ/6 systolic murmur were heard at left sternal border. Arterial blood gases suggested that severe metabolic acidosis with lactic acidosis. Brain magnetic resonance imaging (MRI) showed multiple symmetrical abnormal signals in the bilateral thalamus, midbrain, pons and medulla oblongata. Echocardiography showed atrial septal defect. Genetic testing identified the patient as a compound heterozygous variation of MRPS34 gene, c.580C>T (p.Gln194Ter) and c.94C>T (p.Gln32Ter), with c.580C>T being the first report and a diagnosis of COXPD32. His parents carried a heterozygous variant, respectively. The child improved after treatment with energy support, acidosis correction, and \"cocktail\" therapy (vitaminB₁, vitaminB₂, vitaminB₆, vitaminC and coenzyme Q10). A total of 8 cases with COXPD32 were collected through 2 English literature reviews and this study. Among the 8 patients, 7 cases had onset during infancy and 1 was unknown, all had developmental delay or regression, 7 cases had feeding difficulty or dysphagia, followed by dystonia, lactic acidosis, ocular symptoms, microcephaly, constipation and dysmorphic facies(mild coarsening of facial features, small forehead, anterior hairline extending onto forehead,high and narrow palate, thick gums, short columella, and synophrys), 2 cases died of respiratory and circulatory failure, and 6 were still alive at the time of reporting, with an age range of 2 to 34 years. Blood and (or) cerebrospinal fluid lactate were elevated in all 8 patients. MRI in 7 cases manifested symmetrical abnormal signals in the brainstem, thalamus, and (or) basal ganglia. Urine organic acid test were all normal but 1 patient had alanine elevation. Five patients underwent respiratory chain enzyme activity testing, and all had varying degrees of enzyme activity reduction. Six variants were","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9751158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Expert consensus on genetic testing and genetic counseling for children with congenital hyperinsulinemia (2023)].","authors":"","doi":"10.3760/cma.j.cn112140-20221220-01059","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20221220-01059","url":null,"abstract":"先天性高胰岛素血症（CHI）是婴幼儿时期严重的低血糖症之一，因延迟诊断和管理不足导致CHI患儿脑损伤高发。CHI的遗传分型有助于临床诊治方案的选择，因此遗传学检测对临床实践具有重要的指导意义。国内外尚无关于CHI遗传检测和遗传咨询的专家共识。本共识主要参考和依据国内外相关文献，从遗传检测的送检指征、遗传报告解读、临床决策建议、遗传咨询等方面进行阐述，为本病提供临床实践和遗传咨询指导；以期通过精准医疗背景下的个体化治疗，实现改善患儿预后和提高患儿家庭生存质量的目的。同时为未来循证指南的制定提供前期基础。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10096949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[A case of Allgrove syndrome with achalasia of cardia as its first clinical phenotype caused by a new mutation of AAAS gene].","authors":"L Y Xiong,&nbsp;P Y Chen,&nbsp;J Xie,&nbsp;L Ren,&nbsp;H L Wang,&nbsp;Y Cheng,&nbsp;P Q Wu,&nbsp;H W Li,&nbsp;S T Gong,&nbsp;L L Geng","doi":"10.3760/cma.j.cn112140-20221030-00921","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20221030-00921","url":null,"abstract":"患儿　女，3岁9月龄，因间断呕吐2年于2022年2月就诊于广州市妇女儿童医疗中心消化科，主要临床表现为进食后呕吐，全身皮肤色黑，哭时无泪，上消化道钡餐造影示贲门失弛缓症，肾上腺功能检查示皮质醇减低、促肾上腺皮质激素增高，符合肾上腺皮质功能低下，基因检查存在AAAS基因c.923C>A纯合无义突变，确诊为Allgrove综合征，给予口服醋酸氢化可的松、左甲状腺素钠片及多潘立酮片，门诊随访1年，患儿皮肤、眼周色素渐变浅，每个月呕吐4~5次。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10096945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}