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

{"title":"[Pitt-Hopkins syndrome caused by TCF4 gene novel mutation in a child].","authors":"J H Liu, T Zhang, J F Tan, X F Zhu","doi":"10.3760/cma.j.cn112140-20221218-01054","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20221218-01054","url":null,"abstract":"患儿 女，1岁5月龄，因“发现智力运动发育落后1年余”就诊。患儿表现为特异性面部特征与全面性发育迟缓，基因检测提示TCF4基因新发错义变异c.1739G>T（p.Arg580Leu），结合表型诊断为皮特-霍普金斯综合征。皮特-霍普金斯综合征是1种全球罕见的神经发育障碍疾病，该病尚无特效疗法，以个体化康复功能训练为主。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9664559","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 nucleoporin 98-rearranged fusion gene in pediatric acute myeloid leukemia].","authors":"Y F Chen, W W Weng, Y M Tang","doi":"10.3760/cma.j.cn112140-20220913-00798","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20220913-00798","url":null,"abstract":"随着联合化疗以及造血干细胞移植技术的不断完善，儿童急性髓系白血病（AML）的预后有了明显改善。然而核孔蛋白98（NUP98）重排AML作为一组特殊的白血病亚型，预后显著不良，疾病诱导缓解率低，移植相关复发率高，亟待新的诊疗策略。本文对儿童NUP98重排AML的流行病学特征、发病机制、临床以及分子生物学特征进行综述，旨在为NUP98重排AML的诊治提供指导。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10004838","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":"[Genomics of next generation sequencing in pediatric B-acute lymphoblastic leukemia and its impact on minimal residual disease].","authors":"Y Y Gao,&nbsp;Y J Jia,&nbsp;B Q Qi,&nbsp;X Y Zhang,&nbsp;Y M Chen,&nbsp;Y Zou,&nbsp;Y Guo,&nbsp;W Y Yang,&nbsp;L Zhang,&nbsp;S C Wang,&nbsp;R R Zhang,&nbsp;T F Liu,&nbsp;Z Song,&nbsp;X F Zhu,&nbsp;X J Chen","doi":"10.3760/cma.j.cn112140-20230417-00278","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230417-00278","url":null,"abstract":"<p><p><b>Objective:</b> To describe the gene mutation profile of newly diagnosed pediatric B-acute lymphoblastic leukemia (B-ALL) and analyze its effect on minimal residual disease (MRD). <b>Methods:</b> A total of 506 newly diagnosed B-ALL children treated in Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences from September 2018 to July 2021 were enrolled in this retrospective cohort study. The enrolled children were divided into MRD ≥1.00% group and <1.00% group according to MRD results on the 19th day since chemotherapy, and MRD ≥0.01% group and <0.01% group according to MRD results on the 46th day. Clinical characteristics and gene mutations of two groups were compared. Comparisons between groups were performed with chi-square test or Fisher's exact test. Independent risk factors of MRD results on the 19th day and the 46th day were analyzed by Logistic regression model. <b>Results:</b> Among all 506 patients, there were 318 males and 188 females. On the 19th day, there were 114 patients in the MRD ≥1.00% group and 392 patients in the MRD <1.00% group. On the 46th day, there were 76 patients in the MRD ≥0.01% group and 430 patients in the MRD <0.01% group. A total of 187 gene mutations were detected in 487 (96.2%) of 506 children. The most common gene mutations were signal transduction-related KRAS gene mutations in 111 cases (22.8%) and NRAS gene mutations in 99 cases (20.3%). Multivariate analysis showed that PTPN11 (<i>OR</i>=1.92, 95%<i>CI</i> 1.00-3.63), KMT2A (<i>OR</i>=3.51, 95%<i>CI</i> 1.07-11.50) gene mutations and TEL-AML1 (<i>OR</i>=0.48, 95%<i>CI</i> 0.27-0.87), BCR-ABL1 (<i>OR</i>=0.27, 95%<i>CI</i> 0.08-0.92) fusion genes and age >10 years (<i>OR</i>=1.91, 95%<i>CI</i> 1.12-3.24) were independent influencing factors for MRD ≥1.00% on the 19th day. BCORL1 (<i>OR</i>=2.96, 95%<i>CI</i> 1.18-7.44), JAK2 (<i>OR=</i>2.99, 95%<i>CI</i> 1.07-8.42) and JAK3 (<i>OR</i>=4.83, 95%<i>CI</i> 1.50-15.60) gene mutations and TEL-AML1 (<i>OR</i>=0.43, 95%<i>CI</i> 0.21-0.87) fusion gene were independent influencing factors for MRD ≥0.01% on the 46th day. <b>Conclusions:</b> Children with B-ALL are prone to genetic mutations, with abnormalities in the RAS signaling pathway being the most common. Signal transduction related PTPN11, JAK2 and JAK3 gene mutations, epigenetic related KMT2A gene mutation and transcription factor related BCORL1 gene mutation are independent risk factors for MRD.</p>","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9631266","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 macrophage activation syndrome].","authors":"H S Shi,&nbsp;D D Zhao,&nbsp;C X Zhang,&nbsp;L Y Wang,&nbsp;M Li,&nbsp;B Yang,&nbsp;X Y Gao","doi":"10.3760/cma.j.cn112140-20230206-00082","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230206-00082","url":null,"abstract":"患儿 男，30分钟龄，生后呻吟、气促、哭声弱。母亲4年前拟诊混合性结缔组织病，孕期擅自停药。患儿双下肢及阴囊水肿，血红蛋白、中性粒细胞、血小板、纤维蛋白原反复降低，天冬氨酸转氨酶升高。患儿27日龄起出现反复高热，肝、脾肿大，甘油三酯3.9 mmol/L，自然杀伤细胞活性降低，血清铁蛋白1 342 μg/L，骨髓中发现噬血现象，诊断新生儿巨噬细胞活化综合征，给予甲泼尼龙2 mg/（kg·d）、环孢素4 mg/（kg·d），治疗1个月余痊愈停药，随访6个月未复发，发育正常。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9631263","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 of decitabine combined with low dose chemotherapy on children with acute myeloid leukemia].","authors":"L Y Fan,&nbsp;L Gao,&nbsp;D X Hu,&nbsp;J Ling,&nbsp;P F Xiao,&nbsp;H L He,&nbsp;Y Wang,&nbsp;J Li,&nbsp;J Lu,&nbsp;J Pan,&nbsp;S Y Hu","doi":"10.3760/cma.j.cn112140-20230417-00280","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230417-00280","url":null,"abstract":"<p><p><b>Objective:</b> To evaluate the efficacy of decitabine combined with low dose chemotherapy (LDC) in the treatment of high-risk, refractory and relapsed pediatric acute myeloid leukemia (AML). <b>Methods:</b> Clinical data of 19 AML children treated with decitabine combined with LDC in the Department of Hematology, Children's Hospital of Soochow University from April 2017 to November 2019 were analyzed retrospectively. The therapeutic response, adverse effects and survival status were analyzed,and the outcomes of patients were followed up. <b>Results:</b> Among 19 AML cases, there were 10 males and 9 females. Five cases were high-risk AML, 7 cases were refractory AML, and 7 cases were relapsed AML. After one course of decitabine+LDC treatment, 15 cases achieved complete remission, 3 cases got partial remission, and only 1 case didn't get remission. All patients received allogeneic hematopoietic stem cell transplantation as consolidation therapy. The follow-up time of all cases was 46 (37, 58) months, 14 children had survived. The cumulative three-year overall survival rate was (79±9) %, events free survival rates was (68±11) %, and recurrence free survival rate was (81±10) %. The most common adverse effects related to the induction treatment were cytopenia (19 cases) and infection (16 cases).There were no treatment-related death during the therapy. <b>Conclusion:</b> Decitabine combined with LDC is a safe and effective option for high-risk, refractory and relapsed AML children, which provides an opportunity for HSCT.</p>","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9631265","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 multisystem inflammatory syndrome in children].","authors":"W Q Li,&nbsp;X Q Bai,&nbsp;Y N Li","doi":"10.3760/cma.j.cn112140-20230115-00035","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230115-00035","url":null,"abstract":"1例86日龄患儿以发热4 d合并皮疹3 d起病，临床表现为腹泻、淋巴结肿大、口唇皲裂脱皮、咽部充血及杨梅舌，存在皮肤黏膜、消化、呼吸、心血管多系统受累，患儿以及父母新型冠状病毒抗原检测结果阳性，实验室检查可见炎症标志物升高、中性粒细胞增多、淋巴细胞减少，诊断儿童多系统炎症综合征。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9676663","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 diagnosis and treatment of hypogonadotropic hypogonadism in children].","authors":"","doi":"10.3760/cma.j.cn112140-20221208-01034","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20221208-01034","url":null,"abstract":"低促性腺激素性性腺功能减退症（HH）是以小阴茎、隐睾、第二性征部分发育或不发育等为主要表现，发病机制复杂、临床表现异质性大的疾病，其早期诊断及治疗方法选择尚有争议，国内无针对此类疾病儿童期的诊治共识、指南或规范。经多个学组多学科专家共同讨论，并综合国内外的最新研究进展，制订了此类疾病的专家共识。.","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9631261","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":"[Meta-analysis of the correlation between prenatal steroid exposure and hypoglycemia in late preterm neonates].","authors":"Z Z Yao,&nbsp;A Z Yu,&nbsp;X Feng","doi":"10.3760/cma.j.cn112140-20230209-00090","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230209-00090","url":null,"abstract":"<p><p><b>Objective:</b> To systematically evaluate the correlation between prenatal steroid exposure and hypoglycemia in late preterm neonates. <b>Methods:</b> Eight databases in either Chinese or English, including PubMed, the Cochrane Library, Embase, Medline, Scopus, CNKI, Wanfang and VIP, were searched to extract the studies on the correlation between prenatal steroid exposure and hypoglycemia in late preterm neonates published from the establishment of each database to December 2022. The Meta-analysis was performed using Stata 14.0 statistical software. <b>Results:</b> A total of 9 studies were included in this Meta-analysis, including 6 retrospective cohort studies, 2 prospective cohort studies and 1 randomized controlled trial (RCT) study, involving 9 143 premature infants. The Meta-analysis showed that prenatal steroid exposure increased the risk of late preterm neonatal hypoglycemia (<i>RR</i>=1.55, 95%<i>CI</i> 1.25-1.91, <i>P</i><0.001). The similar correlation between prenatal steroid exposure and hypoglycemia in late preterm neonates was all found in the following subgroups: North America (<i>RR</i>=1.57, 95%<i>CI</i> 1.37-1.80, <i>P</i><0.001), enrolling pregnant women with gestational diabetes (<i>RR</i>=1.62, 95%<i>CI</i> 1.26-2.08, <i>P</i><0.001), A-grade literature quality (<i>RR</i>=1.43, 95%<i>CI</i> 1.14-1.79, <i>P</i>=0.002), criteria for hypoglycemia ≤40 mg/dl (1 mg/dl=0.056 mmol/L, <i>RR</i>=1.49, 95%<i>CI</i> 1.28-1.73, <i>P</i><0.001), sample size of 501-1 500 (<i>RR</i>=1.69, 95%<i>CI</i> 1.19-2.40, <i>P</i>=0.003) and >1 500 (<i>RR</i>=1.65, 95%<i>CI</i> 1.48-1.83, <i>P</i><0.001), steroid injection dosage and frequency of 12 mg 2 times (<i>RR</i>=1.66, 95%<i>CI</i> 1.50-1.84, <i>P</i><0.001), the time interval from antenatal corticosteroid administration to delivery of 24-47 h (<i>RR</i>=1.98, 95%<i>CI</i> 1.26-3.10, <i>P</i>=0.003), unadjusted gestational age (<i>RR</i>=1.78, 95%<i>CI</i> 1.02-3.10,<i>P</i>=0.043) and unadjusted birth weight (<i>RR</i>=1.80, 95%<i>CI</i> 1.22-2.66, <i>P</i>=0.003). Meta-regression results showed that steroid injection frequency and dose were the main sources of high heterogeneity among studies (<i>P</i>=0.030). <b>Conclusion:</b> Prenatal steroid exposure may be a risk factor for hypoglycemia in late preterm neonates.</p>","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9631262","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":"[Clinical features and prognosis of 118 children with histiocytic necrotizing lymphadenitis].","authors":"D Zhang,&nbsp;G X Su,&nbsp;F Q Wu,&nbsp;J Zhu,&nbsp;M Kang,&nbsp;Y J Xu,&nbsp;M Li,&nbsp;J M Lai","doi":"10.3760/cma.j.cn112140-20230110-00020","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230110-00020","url":null,"abstract":"<p><p><b>Objective:</b> To explore the clinical features and prognosis of children with histiocytic necrotizing lymphadenitis (HNL). <b>Methods:</b> The clinical data of 118 children with HNL diagnosed and treated in the Department of Rheumatology and Immunology of Children's Hospital, Capital Institute of Pediatrics from January 2014 to December 2021 were retrospectively analyzed. The clinical symptoms, laboratory examination, imaging examination, pathological findings, treatment and follow-up were analyzed. <b>Results:</b> Among the 118 patients, 69 were males and 49 were females. The age of onset was 10.0 (8.0, 12.0) years, ranging from 1.5 to 16.0 years. All the children had fever lymph node enlargement, blood system involvement in 74 cases (62.7%), skin injury in 39 cases (33.1%). The main manifestations of laboratory examination were increased erythrocyte sedimentation rate in 90 cases (76.3%), decreased hemoglobin in 58 cases (49.2%), decreased white blood cells in 54 cases (45.8%) and positive antinuclear antibody in 35 cases (29.7%). Ninety-seven cases (82.2%) underwent B-mode ultrasound of lymph nodes, showing nodular lesions with low echo in the neck; 22 cases (18.6%) underwent cervical X-ray and (or) CT; 7 cases (5.9%) underwent cervical magnetic resonance imaging. Lymph node biopsy was performed in all 118 cases, and the pathological results did not support malignant diseases such as lymphoma or Epstein-Barr virus infection, suggesting HNL. Fifty-seven cases (48.3%) recovered without treatment, 61 cases (51.7%) received oral steroid therapy, and 4 cases (3.4%) received indomethacin as anal stopper. The 118 cases were followed up for 4 (2, 6) years, ranging from 1 to 7 years, 87 cases (73.7%) had one onset and did not develop into other rheumatological diseases, and 24 cases (20.3%) had different degrees of recurrence, 7 cases (5.9%) had multiple system injuries, and all of the tested autoantibodies were positive for medium and high titers. All of them developed into other rheumatic immune diseases, among which 5 cases developed into systemic lupus erythematosus and 2 cases developed into Sjogren's syndrome; 7 cases were given oral steroid therapy, including 6 cases plus immunosuppressant and 2 cases receiving methylprednisolone 20 mg/kg shock therapy. <b>Conclusions:</b> The first-onset HNL portion is self-healing, hormone-sensitive and has a good prognosis. For HNL with repeated disease and multiple system injury, antinuclear antibody titer should be monitored during follow-up, and attention should be paid to the possibility of developing into other rheumatological diseases, with poor prognosis.</p>","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10004842","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":"[Clinical characteristics of 111 cases with mucopolysaccharidosis ⅣA].","authors":"M N Yi,&nbsp;H W Zhang,&nbsp;X L Gao,&nbsp;Y Wang,&nbsp;L S Han,&nbsp;W J Qiu,&nbsp;X F Gu","doi":"10.3760/cma.j.cn112140-20230308-00170","DOIUrl":"https://doi.org/10.3760/cma.j.cn112140-20230308-00170","url":null,"abstract":"<p><p><b>Objective:</b> To analyze the clinical characteristics of patients with Mucopolysaccharidosis ⅣA (MPS ⅣA). <b>Methods:</b> A retrospective study was conducted on 111 patients with MPS ⅣA in Xinhua Hospital of Shanghai Jiao Tong University School of Medcine from December 2008 to August 2020, confirmed by enzyme activity and genetic testing. General situation, clinical manifestations and enzyme activity test results were analyzed. According to the clinical manifestations, it can be divided into severe, intermediate and mild group. The independent sample <i>t</i> test was used to compare the birth body length and weight of children with that of normal boys and girls, and group comparisons of enzyme activities were evaluated by median test. <b>Results:</b> One hundred and eleven unrelated patients, 69 males and 42 females, were classified into 3 subtypes: severe (<i>n</i>=85), intermediate (<i>n</i>=14), and mild (<i>n</i>=12). The age at symptom onset were 1.6 (1.0, 3.0) years, and at diagnosis were 4.3 (2.8, 7.8) years. Skeletal manifestations were observed in all patients and consisted mainly of pectus carinatum (96/111, 86.5%), motor dysfunction (78/111, 70.3%), spinal deformity (71/111, 64.0%), growth retardation (64/111, 57.7%), joint laxity (63/111, 56.8%) and genu valgum (62/111, 55.9%). Eighty-eight patients (88/111, 79.3%) with MPS ⅣA were also along with non-skeletal manifestations, mainly including snoring (38/111, 34.2%), coarse faces (34/111, 30.6%), and visual impairment (26/111, 23.4%). The most common skeletal manifestation was pectus carinatum (79 cases), and non-skeletal manifestation was snoring (30 cases) and coarse faces (30 cases) in severe patients, pectus carinatum (13 cases) and snoring (5 cases) in intermediate type, motor dysfunction (11 cases) and snoring (3 cases) and visual impairment (3 cases) in mild patients. The height and weight of severe patients began to fall below -2 <i>s</i> at 2-<5 years and 5-<7 years, respectively. At the age of 10-<15 years, the standard deviation score of the height of severe patients reached (-6.2±1.6) <i>s</i> in males and (-6.4±1.2) <i>s</i> in females, and the score of weight got (-3.0±1.1) <i>s</i> in males and (-3.5±0.5) <i>s</i> in females. The height of intermediate patients began to fall below -2 <i>s</i> at the age of 7-<10 years, and the standard deviation score of height were -4.6 <i>s</i> and -3.6 <i>s</i> in 2 males, and -4.6 <i>s</i> and -3.8 <i>s</i> in 2 females at the age of 10-<15 years. The weight remained within -2 <i>s</i> in 72.0% (18/25) of intermediate patients compared to age-matched healthy children. In the mild patients with MPS ⅣA, the mean standard deviation score of height and weight was within -2 <i>s</i>. The enzyme activities of mild patients (2.02 (1.05, 8.20) nmol/(17 h·mg)) were both significantly higher than that of intermediate (0.57 (0.47, 0.94) nmol/(17 h·mg)) and severe (0.22 (0, 0.59) nmol/(17 h·mg)) patients (<i>Z</i>=9.91, 13.98, <i>P</","PeriodicalId":23998,"journal":{"name":"Zhonghua er ke za zhi = Chinese journal of pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9631264","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}