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Warburg effect mimicking inborn errors of metabolism in childhood hematologic malignancies:A case-based systematic review
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作者 Khanittha Permtawee Maliwan Tengsujaritkul +5 位作者 Chane Choed-Amphai Supapitch Chanthong Kanittha Mankhemthong Lalita Sathitsamitphong Rungrote Natesirinilkul Pimlak Charoenkwan 《World Journal of Clinical Pediatrics》 2023年第5期350-358,共9页
BACKGROUND Type B lactic acidosis and hypoglycemia can occur in various pediatric conditions.In young children with a history of fasting preceding these metabolic derangements,inborn errors of metabolism should be pri... BACKGROUND Type B lactic acidosis and hypoglycemia can occur in various pediatric conditions.In young children with a history of fasting preceding these metabolic derangements,inborn errors of metabolism should be primarily considered.However,the Warburg effect,a rare metabolic complication,can also manifest in children with hematologic malignancies.Only a few reports of this condition in children have been published in the literature.AIM To identify the clinical course,treatment strategies,and outcomes of childhood hematologic malignancies with type B lactic acidosis.METHODS We performed a comprehensive search of the PubMed,Scopus,and Cochrane databases without any time restriction but limited to English language articles.The databases were last accessed on July 1st,2023.RESULTS A total of 20 publications were included in the analysis,all of which were case reports or case series.No higher quality evidence was available.Among children with hematologic malignancies and Warburg effect,there were 14 cases of acute lymphoblastic leukemia and 6 cases of non-Hodgkin’s lymphoma including our illustrative case.Lactic acidosis occurred in 55%of newly diagnosed cases and 45%of relapsed cases.The mean age was 10.3±4.5 years,and 80%of cases were male.The mean serum lactate was 16.9±12.6 mmol/L,and 43.8%of the cases had concomitant hypoglycemia.Lactic acidosis initially subsided in 80%of patients receiving chemotherapy compared to 60%in the contrast group.The mortality rate of newly diagnosed cases was 45.5%,while the relapsed cases represented a 100%mortality rate.All 8 patients reported before 2001 died from disease-related complications.However,patients described in reports published between 2003 and 2023 had a 54.5%rate of complete remission.CONCLUSION This complication has historically led to fatal outcome;however,patients who received chemotherapy showed a more favorable response.Therefore,it is crucial to promptly initiate specific treatment in this context. 展开更多
关键词 Warburg effect Lactic acidosis type B inborn errors of metabolism LEUKEMIA LYMPHOMA CHILDREN
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Infant with cardiomyopathy: When to suspect inborn errors of metabolism? 被引量:3
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作者 Stephanie L Byers Can Ficicioglu 《World Journal of Cardiology》 CAS 2014年第11期1149-1155,共7页
Inborn errors of metabolism are identified in 5%-26% of infants and children with cardiomyopathy. Although fatty acid oxidation disorders, lysosomal and glycogen storage disorders and organic acidurias are well-known ... Inborn errors of metabolism are identified in 5%-26% of infants and children with cardiomyopathy. Although fatty acid oxidation disorders, lysosomal and glycogen storage disorders and organic acidurias are well-known to be associated with cardiomyopathies, emerging reports suggest that mitochondrial dysfunction and congenital disorders of glycosylation may also account for a proportion of cardiomyopathies. This review article clarifies when primary care physicians and cardiologists should suspect inborn errors of metabolism in a patient with cardiomyopathy, and refer the patient to a metabolic specialist for a further metabolic work up, with specific discussions of "red flags" which should prompt additional evaluation. 展开更多
关键词 CARDIOMYOPATHY Inherited metabolic disorders inborn errors of metabolism
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Human biochemical genetics: an insight into inborn errors of metabolism
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作者 YU Chunli SCOTT C. Ronald 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2006年第2期165-166,共2页
Inborn errors of metabolism (IEM) include a broad spectrum of defects of various gene products that affect interme-diary metabolism in the body. Studying the molecular and biochemical mechanisms of those inherited dis... Inborn errors of metabolism (IEM) include a broad spectrum of defects of various gene products that affect interme-diary metabolism in the body. Studying the molecular and biochemical mechanisms of those inherited disorder, systematically summarizing the disease phenotype and natural history, providing diagnostic rationale and methodology and treatment strategy comprise the context of human biochemical genetics. This session focused on: (1) manifestations of representative metabolic disorders; (2) the emergent technology and application of newborn screening of metabolic disorders using tandem mass spec-trometry; (3) principles of managing IEM; (4) the concept of carrier testing aiming prevention. Early detection of patients with IEM allows early intervention and more options for treatment. 展开更多
关键词 inborn errors of metabolism (IEM). Newborn screening (NRS) Disease phenotype and therapy
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Liver immunity,autoimmunity,and inborn errors of immunity 被引量:2
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作者 Yavuz Emre Parlar Sefika Nur Ayar +1 位作者 Deniz Cagdas Yasemin H Balaban 《World Journal of Hepatology》 2023年第1期52-67,共16页
The liver is the front line organ of the immune system.The liver contains the largest collection of phagocytic cells in the body that detect both pathogens that enter through the gut and endogenously produced antigens... The liver is the front line organ of the immune system.The liver contains the largest collection of phagocytic cells in the body that detect both pathogens that enter through the gut and endogenously produced antigens.This is possible by the highly developed differentiation capacity of the liver immune system between self-antigens or non-self-antigens,such as food antigens or pathogens.As an immune active organ,the liver functions as a gatekeeping barrier from the outside world,and it can create a rapid and strong immune response,under unfavorable conditions.However,the liver's assumed immune status is anti-inflammatory or immuno-tolerant.Dynamic interactions between the numerous populations of immune cells in the liver are key for maintaining the delicate balance between immune screening and immune tolerance.The anatomical structure of the liver can facilitate the preparation of lymphocytes,modulate the immune response against hepatotropic pathogens,and contribute to some of its unique immunological properties,particularly its capacity to induce antigen-specific tolerance.Since liver sinusoidal endothelial cell is fenestrated and lacks a basement membrane,circulating lymphocytes can closely contact with antigens,displayed by endothelial cells,Kupffer cells,and dendritic cells while passing through the sinusoids.Loss of immune tolerance,leading to an autoaggressive immune response in the liver,if not controlled,can lead to the induction of autoimmune or autoinflammatory diseases.This review mentions the unique features of liver immunity,and dysregulated immune responses in patients with autoimmune liver diseases who have a close association with inborn errors of immunity have also been the emphases. 展开更多
关键词 Liver immunity AUTOIMMUNITY Immune tolerance Autoinflamation Autoimmune liver diseases inborn errors of immunity
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Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong 被引量:12
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作者 Han-Chih Hencher Lee Chloe Miu Mak +12 位作者 Ching-Wan Lam Yuet-Ping Yuen, Angel On-Kei Chan Chi-Chung Shek Tak-Shing Siu Chi-Kong Lai Chor-Kwan Ching Wai-Kwan Siu Sammy Pak-Lam Chen Chun-Yiu Law Morris Hok-Leung Tai Sidney Tam Albert Yan-Wo Chan 《Chinese Medical Journal》 SCIE CAS CSCD 2011年第7期983-989,共7页
Background Data of classical inborn errors of metabolism (IEM) of amino acids, organic acids and fatty acid oxidation are largely lacking in Hong Kong, where mass spectrometry-based expanded newborn screening for IE... Background Data of classical inborn errors of metabolism (IEM) of amino acids, organic acids and fatty acid oxidation are largely lacking in Hong Kong, where mass spectrometry-based expanded newborn screening for IEM has not been initiated. The current study aimed to evaluate the approximate incidence, spectrum and other characteristics of classical IEM in Hong Kong, which would be important in developing an expanded newborn screening program for the local area. 展开更多
关键词 biochemical genetics chemical pathology expanded newborn screening Hong Kong inborn errorsof metabolism tandem mass spectrometry
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Current strategies for the treatment of inborn errors of metabolism 被引量:2
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作者 Michael J.Gambello Hong Li 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2018年第2期61-70,共10页
Inborn errors of metabolism(IEMs) are a large group of inherited disorders characterized by disruption of metabolic pathways due to deficient enzymes, cofactors, or transporters. The rapid advances in the understand... Inborn errors of metabolism(IEMs) are a large group of inherited disorders characterized by disruption of metabolic pathways due to deficient enzymes, cofactors, or transporters. The rapid advances in the understanding of the molecular pathophysiology of many IEMs, have led to significant progress in the development of many new treatments. The institution and continued expansion of newborn screening provide the opportunity for early treatment, leading to reduced morbidity and mortality. This review provides an overview of the diverse therapeutic approaches and recent advances in the treatment of IEMs that focus on the basic principles of reducing substrate accumulation, replacing or enhancing absent or reduced enzyme or cofactor, and supplementing product deficiency. In addition, the challenges and obstacles of current treatment modalities and future treatment perspectives are reviewed and discussed. 展开更多
关键词 inborn errors of metabolism Treatment Dietary therapy Enzyme replacement therapy Substrate reduction therapy Pharmacological chaperone therapy
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Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity 被引量:4
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作者 Georgios Sogkas Faranaz Atschekzei +3 位作者 Ignatius Ryan Adriawan Natalia Dubrowinskaja Torsten Witte Reinhold Ernst Schmidt 《Cellular & Molecular Immunology》 SCIE CAS CSCD 2021年第5期1122-1140,共19页
In addition to susceptibility to infections,conventional primary immunodeficiency disorders(PIDs)and inborn errors of immunity(IEI)can cause immune dysregulation,manifesting as lymphoproliferative and/or autoimmune di... In addition to susceptibility to infections,conventional primary immunodeficiency disorders(PIDs)and inborn errors of immunity(IEI)can cause immune dysregulation,manifesting as lymphoproliferative and/or autoimmune disease.Autoimmunity can be the prominent phenotype of PIDs and commonly includes cytopenias and rheumatological diseases,such as arthritis,systemic lupus erythematosus(SLE),and Sjogren’s syndrome(SjS).Recent advances in understanding the genetic basis of systemic autoimmune diseases and PIDs suggest an at least partially shared genetic background and therefore common pathogenic mechanisms.Here,we explore the interconnected pathogenic pathways of autoimmunity and primary immunodeficiency,highlighting the mechanisms breaking the different layers of immune tolerance to self-antigens in selected IEI. 展开更多
关键词 inborn errors of immunity Primary immunodeficiencies AUTOIMMUNITY Rheumatic diseases
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基因治疗在免疫出生错误中的研究进展
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作者 李婷(综述) 宋红梅(审校) 《中国当代儿科杂志》 CAS CSCD 北大核心 2024年第8期865-870,共6页
免疫出生错误(inborn errors of immunity,IEI)是由遗传因素导致免疫结构或功能障碍所致的一类疾病,可累及固有免疫和适应性免疫。2022年IEI新分类包含485种IEI,分为十大类疾病。近年来随着分子生物学的快速发展,许多IEI的具体发病机制... 免疫出生错误(inborn errors of immunity,IEI)是由遗传因素导致免疫结构或功能障碍所致的一类疾病,可累及固有免疫和适应性免疫。2022年IEI新分类包含485种IEI,分为十大类疾病。近年来随着分子生物学的快速发展,许多IEI的具体发病机制得以揭示,使得基因治疗在该类疾病的临床前和临床研究成为可能。该文综述基因治疗在IEI中的研究和应用,以进一步提高临床医生对IEI诊治的认知。 展开更多
关键词 免疫出生错误 基因治疗 重症联合免疫缺陷 湿疹血小板减少伴免疫缺陷综合征 腺苷脱氨酶2缺乏症
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NFKBIA基因突变所致极早发型炎性肠病1例并文献复习
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作者 王红丁 魏冬梅 +1 位作者 张晓青 金忠芹 《疑难病杂志》 CAS 2024年第6期743-745,共3页
报道1例NFKBIA基因突变所致极早发型炎性肠病患者的临床资料,并进行文献复习。
关键词 极早发型炎性肠病 NFKBIA基因突变 先天免疫缺陷 诊断 治疗
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肌病型肉碱棕榈酰转移酶Ⅱ缺乏症1例并文献复习
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作者 陆光双 夏明农 +4 位作者 程云 胡杰 李文博 张帆 杨武 《精准医学杂志》 2024年第5期448-451,共4页
目的探讨肌病型肉碱棕榈酰转移酶Ⅱ(CPTⅡ)缺乏症基因型-临床表型特点,以提高临床对该病的认识。方法分析1例肌病型CPTⅡ缺乏症患者临床资料,包括基因检测结果、诊治和随访情况,复习文献并总结CPTⅡ缺乏症临床特点和疾病诊治状况。结果... 目的探讨肌病型肉碱棕榈酰转移酶Ⅱ(CPTⅡ)缺乏症基因型-临床表型特点,以提高临床对该病的认识。方法分析1例肌病型CPTⅡ缺乏症患者临床资料,包括基因检测结果、诊治和随访情况,复习文献并总结CPTⅡ缺乏症临床特点和疾病诊治状况。结果患儿,女,10月,急性肠炎入院,血肌酸激酶、肌红蛋白水平显著升高,其父亲既往有经常运动后乏力及解酱油色小便病史,该患儿及其父亲均检测到CPT2基因杂合致病突变c.989dupTp.(Ile332fs),确诊肌病型CPTⅡ缺乏症;予控制感染、补充大量碳水化合物等治疗,患儿血肌酸激酶、肌红蛋白水平恢复正常,出院随访情况良好。结论肌病型CPTⅡ缺乏症是影响骨骼肌脂质代谢常见疾病,也是遗传性肌红蛋白尿常见病因,但症状非常隐蔽,临床上易被忽视,当遇到患者反复血肌酸激酶升高伴运动不耐受、肌红蛋白尿等或有家族史时,需考虑到该病。 展开更多
关键词 肉碱O-软脂酰转移酶 代谢缺陷 先天性 肌疾病 突变 肌红蛋白尿
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Diagnosis and treatment of an inborn error of bile acid synthesis type 4:A case report
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作者 Shou-Hao Wang Tian-Chen Hui +6 位作者 Zhe-Wen Zhou Cheng-An Xu Wen-Hao Wu Qing-Qing Wu Wei Zheng Qiao-Qiao Yin Hong-Ying Pan 《World Journal of Clinical Cases》 SCIE 2021年第26期7923-7929,共7页
BACKGROUND Inborn error of bile acid synthesis type 4 is a peroxisomal disease with impaired bile acid synthesis caused by a-methylacyl-CoA racemase(AMACR)gene mutation.The disease is usually found in children with mi... BACKGROUND Inborn error of bile acid synthesis type 4 is a peroxisomal disease with impaired bile acid synthesis caused by a-methylacyl-CoA racemase(AMACR)gene mutation.The disease is usually found in children with mild to severe liver disease,cholestasis and poor fat-soluble vitamin absorption.At present,there is no report of inborn errors of bile acid synthesis type 4 in adults with liver disease and poor fat-soluble vitamin absorption.CASE SUMMARY A 71-year-old man was hospitalized in our department for recurrent liver dysfunction.The clinical manifestations were chronic liver disease and yellow skin and sclera.Serum transaminase,bilirubin and bile acid were abnormally increased;and fat-soluble vitamins decreased.Liver cirrhosis and ascites were diagnosed by computed tomography.The patient had poor coagulation function and ascites and did not undergo liver puncture.Genetic testing showed AMACR gene missense mutation.The patient was diagnosed with inborn error of bile acid synthesis type 4.He was treated with ursodeoxycholic acid,liver protection and vitamin supplementation,and jaundice of the skin and sclera was reduced.The indicators of liver function and the quality of life were significantly improved.CONCLUSION When adults have recurrent liver function abnormalities,physicians should be alert to genetic diseases and provide timely treatment. 展开更多
关键词 Bile acid synthesis A-methylacyl-CoA racemase gene Gene mutation inborn error of metabolism Ursodeoxycholic acid Case report
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儿童遗传代谢病急性期的营养管理
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作者 邱文娟 杜陶子 夏瑜 《临床儿科杂志》 CAS CSCD 北大核心 2023年第6期401-405,共5页
遗传代谢病(IEM)是一组由于氨基酸、有机酸、脂肪酸、碳水化合物等生化代谢及线粒体能量代谢过程中的酶、受体、辅助因子或转运蛋白缺陷导致的单基因遗传病。IEM急性代谢紊乱发作可导致较高的致死率和致残率,提高急性期营养管理对改善IE... 遗传代谢病(IEM)是一组由于氨基酸、有机酸、脂肪酸、碳水化合物等生化代谢及线粒体能量代谢过程中的酶、受体、辅助因子或转运蛋白缺陷导致的单基因遗传病。IEM急性代谢紊乱发作可导致较高的致死率和致残率,提高急性期营养管理对改善IEM的预后意义重大。文章基于国内外IEM的指南和专家共识,结合临床实践经验,介绍常见IEM急性期儿童营养管理的原则和方案,旨在提高IEM急性期的营养管理水平和预后。 展开更多
关键词 遗传代谢病 急性代谢紊乱 营养管理
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尿素循环障碍患儿慢性期治疗和管理
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作者 黄新文 《浙江大学学报(医学版)》 CAS CSCD 北大核心 2023年第6期744-750,共7页
尿素循环障碍(UCD)是一组致死、致残率较高的遗传代谢病,需要长期饮食和药物治疗及管理。除希特林蛋白缺乏症和行肝移植治疗的患儿,其他慢性期患儿均需要终身低蛋白饮食,保证其相应年龄的安全蛋白质摄入量以及充足的碳水和脂肪的供能比... 尿素循环障碍(UCD)是一组致死、致残率较高的遗传代谢病,需要长期饮食和药物治疗及管理。除希特林蛋白缺乏症和行肝移植治疗的患儿,其他慢性期患儿均需要终身低蛋白饮食,保证其相应年龄的安全蛋白质摄入量以及充足的碳水和脂肪的供能比,必要时补充必需氨基酸及无蛋白奶粉;药物治疗主要包括氮清除剂(苯甲酸钠、苯丁酸钠、苯丁酸甘油酯)、尿素循环激活/底物补充剂(N-氨基甲酰谷氨酸、精氨酸、瓜氨酸)等。规范饮食及药物治疗后未达预期效果、出现严重进展性肝病或出现反复发作的患儿建议行肝移植。基因疗法、干细胞疗法和酶替代疗法等新技术可能是UCD患儿治疗的新选择。UCD患儿需要定期检测血氨、肝功能和血氨基酸等生化指标,并评估体格生长、智力发育和营养摄入情况,及时调整治疗方案。 展开更多
关键词 尿素循环障碍 遗传性代谢缺陷 儿童 慢性期 健康管理 鸟氨酸氨甲酰基转移酶 鸟氨酸转氨甲酰酶 综述
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遗传性代谢缺陷所致肾结石研究进展 被引量:1
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作者 宋远明 赵长永 李道兵 《浙江大学学报(医学版)》 CAS CSCD 北大核心 2023年第2期169-177,共9页
肾结石是一种病因复杂且易复发的常见疾病。人类基因组关联性研究发现多种基因突变导致的代谢缺陷与结石形成有关,其中单基因病例占比较高。基因突变引起酶功能、代谢通路、离子转运、受体敏感性等改变,导致草酸代谢、胱氨酸代谢、钙离... 肾结石是一种病因复杂且易复发的常见疾病。人类基因组关联性研究发现多种基因突变导致的代谢缺陷与结石形成有关,其中单基因病例占比较高。基因突变引起酶功能、代谢通路、离子转运、受体敏感性等改变,导致草酸代谢、胱氨酸代谢、钙离子代谢、嘌呤代谢等缺陷,易产生遗传性肾结石。如原发性高草酸尿症、胱氨酸尿症、登特病、家族性低镁血症合并高钙尿和肾钙盐沉着症、巴特综合征、原发性远端肾小管酸中毒、婴儿高钙血症、遗传性低磷性佝偻病伴高钙尿症、腺嘌呤磷酸核糖基转移酶缺乏症、次黄嘌呤-鸟嘌呤磷酸核糖基转移酶缺乏症、遗传性黄嘌呤尿症等都与遗传性肾结石相关。本文就遗传性代谢缺陷所致肾结石的研究进展进行回顾,增加对草酸代谢、胱氨酸代谢、钙离子代谢、嘌呤代谢等缺陷致肾结石的认知,以便早期筛查、诊治及预防复发。 展开更多
关键词 肾结石 遗传性代谢缺陷 基因 综述
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石家庄地区枫糖尿病患儿串联质谱筛查及BCKDHA、BCKDHB、DBT基因突变分析 被引量:2
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作者 贾立云 弓苗 +2 位作者 杨会欣 王熙 封纪珍 《国际生殖健康/计划生育杂志》 CAS 2023年第3期203-205,210,共4页
目的:了解中国河北省石家庄地区新生儿中枫糖尿病(maple syrup urine disease,MSUD)的患病率,分析相关基因突变特点。方法:采用串联质谱技术对石家庄地区2014年1月—2021年12月出生的185683例新生儿进行MSUD筛查,对筛查阳性患儿进行BCK... 目的:了解中国河北省石家庄地区新生儿中枫糖尿病(maple syrup urine disease,MSUD)的患病率,分析相关基因突变特点。方法:采用串联质谱技术对石家庄地区2014年1月—2021年12月出生的185683例新生儿进行MSUD筛查,对筛查阳性患儿进行BCKDHA、BCKDHB、DBT基因突变检测。结果:确诊2例MSUD患儿,患病率为1∶92842。2例患儿的初筛及例2复查串联质谱血液亮氨酸、缬氨酸水平升高,例1因召回复查前已夭折,无复查串联质谱结果。确诊2例MSUD患儿均为经典型,分别检测到BCKDHB和DBT基因复合杂合突变,基因突变分析发现了4种突变位点:c.331C>T、c.289G>T、c.75_76delAT及c.1359_1360delAG;其中c.289G>T和c.1359_1360delAG为未报道基因突变,未检测到BCKDHA基因突变位点。例1于生后10 d夭折;例2于生后8 d开始出现症状,及时干预治疗后好转。结论:串联质谱技术应用于新生儿疾病筛查可及早发现MSUD患儿;相关基因检测可明确遗传学病因,为遗传咨询提供依据;石家庄地区MSUD的患病率为1∶92842;发现的4种基因突变位点中2种为未报道基因突变,丰富了基因突变谱。 展开更多
关键词 枫糖尿病 氨基酸代谢障碍 先天性 新生儿筛查 串联质谱法 DNA突变分析
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Current understanding of ELF4 deficiency:a novel inborn error of immunity
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作者 Hong-Qiang Du Xiao-Dong Zhao 《World Journal of Pediatrics》 SCIE CSCD 2024年第5期444-450,共7页
Background ELF4 deficiency has been recently recognized as a novel disorder within the spectrum of inborn errors of immunity(IEIs),specifically categorized as a“disease of immune dysregulation.”Cases of this conditi... Background ELF4 deficiency has been recently recognized as a novel disorder within the spectrum of inborn errors of immunity(IEIs),specifically categorized as a“disease of immune dysregulation.”Cases of this condition,reported by our team and others,are very limited worldwide.As such,our current knowledge of this new disease remains preliminary.This review aims to provide a brief overview of the clinical manifestations,pathogenesis,and treatment strategies for this novel IEI.Data sources A comprehensive review was conducted after an extensive literature search in the PubMed/Medline database and websites concerning transcriptional factor ELF4 and reports concerning patients with ELF4 deficiency.Our search strategy was“ELF4 OR ETS-related transcription factor Elf-4 OR EL4-like factor 4 OR myeloid Elf-1-like factor”as of the time of manuscript submission.Results The current signature manifestations of ELF4 deficiency disorder are recurrent and prolonged oral ulcer,abdominal pain,and diarrhea in pediatric males.In some cases,immunodeficiency and autoimmunity can also be prominent.Targeted Sanger sequencing or whole exome sequencing can be used to detect variation in ELF4 gene.Western blotting for ELF4 expression of the patient’s cells can confirm the pathogenic effect of the variant.To fully confirm the pathogenicity of the variant,further functional test is strongly advised.Glucocorticoid and biologics are the mainstream management of ELF4 deficiency disorder.Conclusions Pediatric males presenting with recurring ulcerations in digestive tract epithelium with or without recurrent fever should be suspected of DEX.When atypical presentations are prominent,variations in ELF4 gene should be carefully evaluated functionally due to the complex nature of ELF4 function.Experience of treating DEX includes use of glucocorticoid and biologics and more precise treatment needs more patients to identify and further mechanistic study. 展开更多
关键词 ELF4 transcription factor Immune dysregulation inborn errors of immunity Mechanism Recurrent infections
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经高危筛查发现的遗传性代谢病15例分析 被引量:13
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作者 谢利娟 朱建幸 +3 位作者 朱晓东 李华军 韩连书 顾学范 《中国当代儿科杂志》 CAS CSCD 2008年第1期31-34,共4页
目的提高临床医生对非特异性临床表现的遗传性代谢病的认识,并通过实验室检查早期诊断、早期治疗,减少后遗症。方法对2003年6月1日至2006年9月30日期间入住上海交通大学医学院附属新华医院儿内科病房的132例非特异性临床表现的高危儿,... 目的提高临床医生对非特异性临床表现的遗传性代谢病的认识,并通过实验室检查早期诊断、早期治疗,减少后遗症。方法对2003年6月1日至2006年9月30日期间入住上海交通大学医学院附属新华医院儿内科病房的132例非特异性临床表现的高危儿,在常规进行临床生化检查的同时行血串联质谱和尿气相质谱检测。结果132例中诊断遗传性代谢病15例(11.5%)。其中甲基丙二酸血症(MMA)6例(40%);丙酸血症2例(13.3%);瓜氨酸血症-II型2例(13.3%);生物素酶缺乏症1例(6.7%);酪氨酸血症1例(6.7%);枫糖尿病1例(6.7%);鸟氨酸氨甲酰转移酶缺乏症1例(6.7%);极长链酰基肉碱辅酶A脱氢酶缺乏症1例(6.7%)。结论对非特异性临床表现疑似遗传性代谢病的高危儿应及时进行串联质谱及气相质谱检查有助于遗传性代谢病的检出。 展开更多
关键词 遗传性代谢病 诊断 串联质谱 气相质谱 儿童
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尿素酶预处理-气相色谱-质谱法选择性筛查遗传代谢病高危患儿327例初步研究 被引量:18
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作者 宋元宗 张霆 +1 位作者 张春花 王自能 《实用儿科临床杂志》 CAS CSCD 北大核心 2005年第2期142-144,i003,共4页
目的 通过对遗传代谢病高危患儿尿液成分进行生化分析 ,筛查遗传代谢病 ,为临床诊断和治疗提供实验依据。方法 收集遗传代谢病高危患儿尿液标本 ,经去尿素、加内标、除蛋白、真空干燥、三甲基硅烷基衍生等处理后 ,应用气相色谱 -质谱... 目的 通过对遗传代谢病高危患儿尿液成分进行生化分析 ,筛查遗传代谢病 ,为临床诊断和治疗提供实验依据。方法 收集遗传代谢病高危患儿尿液标本 ,经去尿素、加内标、除蛋白、真空干燥、三甲基硅烷基衍生等处理后 ,应用气相色谱 -质谱联用仪分析尿液中有机酸、氨基酸、糖类、多醇、嘌呤、嘧啶等成分。这一流程在国际上被称为尿素酶预处理 气相色谱 质谱法。结果 对来自中国大陆 6省、区和直辖市的 3 2 7例遗传代谢病高危患儿的尿液标本进行检测 ,共筛查出遗传代谢病 16种 2 7例 ,阳性率为 8.2 6% ,其中高苯丙氨酸血症、甘油尿症和Leigh综合征各 3例 ,丙酸血症、甲基丙二酸尿症、vonGierke病、果糖 1,6 二磷酸酶缺陷病、果糖尿症各 2例 ,多种羧化酶缺陷病、戊二酸血症Ⅰ型、枫糖尿病、高甘氨酸血症、3 氨基异丁酸尿症、半乳糖血症、瓜氨酸血症Ⅱ型及Fanconi综合征各 1例。经临床干预虽然仍有部分患儿预后不良 ,但多种羧化酶缺陷病、甲基丙二酸尿症、半乳糖血症等患儿获得较好的治疗效果。其余患儿的病情有待追踪观察。结论 应用尿素酶预处理 气相色谱 质谱法分析尿液成分 ,是筛查某些遗传代谢病的有效方法 ,检测结果可为患儿的诊断和治疗提供有效指导。 展开更多
关键词 遗传代谢病 气相色谱 质谱法 尿素酶预处理
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尿素酶预处理-气相色谱-质谱法在甲基丙二酸尿症诊断中的应用 被引量:16
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作者 郝虎 宋元宗 +2 位作者 肖昕 张春花 王自能 《实用儿科临床杂志》 CAS CSCD 北大核心 2008年第8期574-576,共3页
目的探讨尿素酶预处理-气相色谱-质谱法(UP-GC-MS)在甲基丙二酸尿症(MMA)诊断、治疗中的价值。方法留取8例MMA患儿和15例同年龄健康儿童晨尿2mL,尿液标本经尿素酶去尿素、加内标正十七酸、除蛋白、真空干燥处理,残余物用双(三甲基... 目的探讨尿素酶预处理-气相色谱-质谱法(UP-GC-MS)在甲基丙二酸尿症(MMA)诊断、治疗中的价值。方法留取8例MMA患儿和15例同年龄健康儿童晨尿2mL,尿液标本经尿素酶去尿素、加内标正十七酸、除蛋白、真空干燥处理,残余物用双(三甲基硅烷基)三氟乙酰胺/三甲基氯硅烷(BSTFA/TMCS)衍生后进样,分析仪器为Finnigan GC-MS联用仪,每次取样0.5-1.0μL,扫描模式为全扫描加选择离子扫描模式,分流比10∶1,起始温度60℃,然后以17℃/min的速度升温至320℃。质谱电离方式为电子解离模式,扫描范围为m/z50-m/z650。应用SPSS12.0软件进行t检验。结果患儿尿液中可检测到明显的甲基丙二酸、甲基枸橼酸等MMA患儿尿液标志物信号。在总离子流图上,其绝对保留时间(相对保留时间)分别是6.78min(0.396min)和11.53min(0.24min)。在质谱图上,甲基丙二酸的特征离子(三甲基硅烷化后质荷比,TMSm/z)分别为73、147、247。8例MMA患儿尿液甲基丙二酸水平为1.72-18.2nmol/mgCr;健康对照组15例儿童为0.001-0.202nmol/mgCr。经过lg(x+5)对数转换后(其中x为原始数据),病例组尿液甲基丙二酸水平为(0.703±0.005),健康对照组为(0.973±0.184),二组比较差异具有统计学意义(t=4.10P〈0.01)。结论建立UP-GC-MS分析尿液代谢成分超越了有机酸萃取法的一些局限,是MMA确诊的重要方法。 展开更多
关键词 遗传代谢病 甲基丙二酸尿症 尿素酶预处理-气相色谱-质谱法
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神经鞘脂贮积病(英文) 被引量:6
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作者 张惠文 顾学范 +3 位作者 叶军 邱文娟 韩连书 吴洁 《临床儿科杂志》 CAS CSCD 北大核心 2010年第3期201-206,共6页
目的建立一系列能够确诊神经鞘脂贮积病溶酶体酶活性的测定方法,收集神经鞘脂贮积病发病率方面的数据,为神经鞘脂贮积病的产前诊断打下基础,以降低其出生率。方法在小儿内分泌和遗传代谢病门诊收集疑似神经鞘脂贮积病患者的外周血,用右... 目的建立一系列能够确诊神经鞘脂贮积病溶酶体酶活性的测定方法,收集神经鞘脂贮积病发病率方面的数据,为神经鞘脂贮积病的产前诊断打下基础,以降低其出生率。方法在小儿内分泌和遗传代谢病门诊收集疑似神经鞘脂贮积病患者的外周血,用右旋糖苷分离白细胞,然后有选择地测定溶酶体酶活性。其中测定酸性β-葡萄糖苷酶、酸性鞘磷脂酶、半乳糖脑苷脂酶及β-半乳糖苷酶活性使用的是其相应的人工合成荧光底物,测定芳香硫脂酶A活性使用的是比色底物2-羟基-5-硝基苯硫酸氢二钾盐。结果在1年内共检测到17例患儿,分别属于5种不同的神经鞘脂贮积病,包括3例戈谢病、9例尼曼匹克病A/B型、2例异染性脑白质营养不良、2例Krabbe病和1例GM1神经节苷脂贮积病。结论与国外资料比较,国内神经鞘脂贮积病诊断的病例明显偏少,在临床工作中需加强对此类疾病的认识。 展开更多
关键词 神经鞘脂贮积病 溶酶体贮积病 先天性代谢缺陷疾病
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