河北地区遗传代谢病高危儿筛查结果分析
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摘要
目的分析河北地区遗传代谢病高危儿的疾病谱、发病年龄等特点,为临床遗传代谢病的早期诊断和治疗提供帮助。方法应用串联质谱技术对2014年1月—2016年12月河北地区8家医院就诊的5545例疑似遗传代谢病患儿进行筛查,并对确诊遗传代谢病患儿的病种构成、年龄分布方面进行统计描述。结果本组共确诊遗传代谢病233例,阳性检出率为4. 20%,共17种疾病类型,以有机酸代谢病170例(72. 96%)最常见,其次为氨基酸代谢病45例(19. 31%),脂肪酸β氧化障碍18例(7. 73%)最少见;疾病类型以甲基丙二酸血症(157例)最为常见,占总阳性病例的67. 38%;新生儿期和婴幼儿期发病患儿共200例,占总阳性病例的85. 84%。结论河北地区高危儿的遗传代谢病以有机酸代谢障碍为主,疾病类型以甲基丙二酸血症最为常见,主要在新生儿期和婴幼儿期发病。
Objective To analyze characteristics of disease spectrum and onset age of inherited metabolic diseases( IMD) in high risk children in Hebei province in order to provide reference for early diagnosis and treatment. Methods A total of 5545 suspected IMD children,who came from eight hospitals in Hebei province during January 2014 and December 2016,were screened using tandem mass spectrometry( MS/MS) techniques. A statistical description of diseases classification and age distribution was performed in children with positive results. Results There were 233 children with IMD,and the positive detection rate was 4. 20% with 17 kinds of diseases. Among them,170 cases( 72. 96%)with disorder of organic acid metabolism were the most common disease,and 45 cases( 19. 31%) with aminoacidopathy were followed by,while 18 cases( 7. 73%) with fatty acid β-oxidation disorders were the most infrequent disease. The most disease was 157 children with methylmalonic academia,and it proportion to the total positive cases was 67. 38%.There were 200 neonatal and infants morbidity,and it proportion to the total positive cases was 85. 84%. Conclusion Organic acid dysbolismus is the main inheritted metabolic diseases in high risk children in Hebei province,and methylmalonic academia is the most common type. IMD in hebei province mainly occur during neonatal period and infancy.
Objective To analyze characteristics of disease spectrum and onset age of inherited metabolic diseases( IMD) in high risk children in Hebei province in order to provide reference for early diagnosis and treatment. Methods A total of 5545 suspected IMD children,who came from eight hospitals in Hebei province during January 2014 and December 2016,were screened using tandem mass spectrometry( MS/MS) techniques. A statistical description of diseases classification and age distribution was performed in children with positive results. Results There were 233 children with IMD,and the positive detection rate was 4. 20% with 17 kinds of diseases. Among them,170 cases( 72. 96%)with disorder of organic acid metabolism were the most common disease,and 45 cases( 19. 31%) with aminoacidopathy were followed by,while 18 cases( 7. 73%) with fatty acid β-oxidation disorders were the most infrequent disease. The most disease was 157 children with methylmalonic academia,and it proportion to the total positive cases was 67. 38%.There were 200 neonatal and infants morbidity,and it proportion to the total positive cases was 85. 84%. Conclusion Organic acid dysbolismus is the main inheritted metabolic diseases in high risk children in Hebei province,and methylmalonic academia is the most common type. IMD in hebei province mainly occur during neonatal period and infancy.
引文
[1]顾学范.临床遗传代谢病[M].北京:人民卫生出版社,2015:1-2.
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[3] Shibata,N,Hasegawa Y,Yamada,K,et al. Diversity in the incidence and spectrum of organic acidemias,fatty acid oxidation disorders,and amino acid disorders in Asian countries:Selective screening vs. expanded newborn screening[J]. Mol Genet Metab Rep,2018,16:5-10
[4] Villoria J,GPajares S,López,et al. Neonatal Screening for Inherited Metabolic Diseases in 2016[J]. Semin Pediatr Neurol,2016,23(4):257-272
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[6]蒙萌,胡斌,王丽雁,等.重庆地区46种遗传代谢病筛查结果分析[J].中国妇幼保健,2015,30(19):3276-3277.
[7] Alfadhel M,Al Othaim A,Al Saif S,et al. Expanded Newborn Screening Program in Saudi Arabia:Incidence of screened disorders[J]. J Paediatr Child Health,2017,53(6):585-591
[8]袁晃堆,叶立新,姚月玲,等.东莞地区串联质谱技术筛查遗传代谢病患儿的初步应用[J].中国医药科学,2016,6(3):167-170.
[9]耿国兴,李旺,范歆,等.乙酸乙酯萃取-气相色谱-质谱联用技术对267例疑似遗传代谢病筛查的结果[J].中国妇幼保健,2014,29(20):3289-3291.
[10]周斌,杨玉,杨利,等.串联质谱技术在遗传代谢病筛查中的应用价值[J].南昌大学学报:医学版,2015,55(5):69-73.
[11]林壹明,许幼仕,林卫华,等.泉州地区高危婴幼儿遗传代谢病筛查及病例分析[J].中国优生与遗传杂志,2015,23(6):113-115.
[12]杨楠,韩连书,叶军,等.新生儿期氨基酸、有机酸及脂肪酸氧化代谢病疾病谱分析[J].临床儿科杂志,2012,9(30):805-808.
[13]宋茂媛,刘长云.串联质谱分析在潍坊地区遗传代谢病诊治中的应用[J].辽宁医学院学报,2012,33(1):47-49,52.
[14]涂文军,戴方,王欣煜,等.液相串联质谱在遗传代谢病高危新生儿检测中的运用研究[J].中国优生与遗传杂志,2010,18(5):81-83.
[15]娄燕,尹娜,陈凤琴,等.串联质谱技术选择性筛查遗传代谢病高危患儿552例初步分析[J].中国当代儿科杂志,2011,13(4):296-299.
[16]王雪莹,姜永生,李丹,等.串联质谱分析在遗传代谢高危儿童中的意义[J].中国儿童保健杂志,2015,23(8):814-816.
[17]刘丽,李红,陆彪,等.液相串联质谱技术在高危婴幼儿遗传代谢病临床筛查诊断中的应用研究[J].重庆医学,2013,42(35):4252-4254.
[18] Grosse S D,Khoury M J,Greene C L,et al. The epidemiology of medium chain acyl-CoA dehydrogenase deficiencyan update[J]. Genet Med,2006,8(4):205-212.
[19] James J Pitt. Newborn Screening[J]. Clin Biochem Rev,2010,31(2):57-68.
[20]刘怡,刘玉鹏,张尧,等.中国1003例甲基丙二酸血症的复杂临床表型、基因型及防治情况分析[J].中华儿科杂志,2018,56(6):414-420.
[21] Imbard,A; Garcia Segarra,N; Tardieu,M,etal. Longterm liver disease in methylmalonic and propionic acidemias[J]. Mol Genet Metab,2018,123(4):433-440.
[22]杨艳玲,韩连书.单纯型甲基丙二酸尿症饮食治疗与营养管理专家共识[J].中国实用儿科杂志,2018,33(7):481-486.
[2] Kaspar H,Dettmer K,Chan Q,et al. Urinary amion acid analysis:a copmparison of ITRAQ-LC-MS/MS,GC/MS,and amion acid analyer[J]. J Chromatogr B Analyt Technol Biomed Life Sci,2009,8(20/21):1838-1846.
[3] Shibata,N,Hasegawa Y,Yamada,K,et al. Diversity in the incidence and spectrum of organic acidemias,fatty acid oxidation disorders,and amino acid disorders in Asian countries:Selective screening vs. expanded newborn screening[J]. Mol Genet Metab Rep,2018,16:5-10
[4] Villoria J,GPajares S,López,et al. Neonatal Screening for Inherited Metabolic Diseases in 2016[J]. Semin Pediatr Neurol,2016,23(4):257-272
[5]中华医学会儿科学分会.儿科内分泌与代谢性疾病诊疗规范[M].北京:人民卫生出版社,2017:232-409.
[6]蒙萌,胡斌,王丽雁,等.重庆地区46种遗传代谢病筛查结果分析[J].中国妇幼保健,2015,30(19):3276-3277.
[7] Alfadhel M,Al Othaim A,Al Saif S,et al. Expanded Newborn Screening Program in Saudi Arabia:Incidence of screened disorders[J]. J Paediatr Child Health,2017,53(6):585-591
[8]袁晃堆,叶立新,姚月玲,等.东莞地区串联质谱技术筛查遗传代谢病患儿的初步应用[J].中国医药科学,2016,6(3):167-170.
[9]耿国兴,李旺,范歆,等.乙酸乙酯萃取-气相色谱-质谱联用技术对267例疑似遗传代谢病筛查的结果[J].中国妇幼保健,2014,29(20):3289-3291.
[10]周斌,杨玉,杨利,等.串联质谱技术在遗传代谢病筛查中的应用价值[J].南昌大学学报:医学版,2015,55(5):69-73.
[11]林壹明,许幼仕,林卫华,等.泉州地区高危婴幼儿遗传代谢病筛查及病例分析[J].中国优生与遗传杂志,2015,23(6):113-115.
[12]杨楠,韩连书,叶军,等.新生儿期氨基酸、有机酸及脂肪酸氧化代谢病疾病谱分析[J].临床儿科杂志,2012,9(30):805-808.
[13]宋茂媛,刘长云.串联质谱分析在潍坊地区遗传代谢病诊治中的应用[J].辽宁医学院学报,2012,33(1):47-49,52.
[14]涂文军,戴方,王欣煜,等.液相串联质谱在遗传代谢病高危新生儿检测中的运用研究[J].中国优生与遗传杂志,2010,18(5):81-83.
[15]娄燕,尹娜,陈凤琴,等.串联质谱技术选择性筛查遗传代谢病高危患儿552例初步分析[J].中国当代儿科杂志,2011,13(4):296-299.
[16]王雪莹,姜永生,李丹,等.串联质谱分析在遗传代谢高危儿童中的意义[J].中国儿童保健杂志,2015,23(8):814-816.
[17]刘丽,李红,陆彪,等.液相串联质谱技术在高危婴幼儿遗传代谢病临床筛查诊断中的应用研究[J].重庆医学,2013,42(35):4252-4254.
[18] Grosse S D,Khoury M J,Greene C L,et al. The epidemiology of medium chain acyl-CoA dehydrogenase deficiencyan update[J]. Genet Med,2006,8(4):205-212.
[19] James J Pitt. Newborn Screening[J]. Clin Biochem Rev,2010,31(2):57-68.
[20]刘怡,刘玉鹏,张尧,等.中国1003例甲基丙二酸血症的复杂临床表型、基因型及防治情况分析[J].中华儿科杂志,2018,56(6):414-420.
[21] Imbard,A; Garcia Segarra,N; Tardieu,M,etal. Longterm liver disease in methylmalonic and propionic acidemias[J]. Mol Genet Metab,2018,123(4):433-440.
[22]杨艳玲,韩连书.单纯型甲基丙二酸尿症饮食治疗与营养管理专家共识[J].中国实用儿科杂志,2018,33(7):481-486.