杜氏肌营养不良症新生儿筛查的可行性
Feasibility of neonatal screening for Duchenne muscular dystrophy.
作者信息
Skinner R, Emery A E, Scheuerbrandt G, Syme J
出版信息
J Med Genet. 1982 Feb;19(1):1-3. doi: 10.1136/jmg.19.1.1.
Abstract
During the period November 1976 to September 1980, 2703 babies born in one Edinburgh hospital were screened in the neonatal period by estimation of their serum creatine kinase levels for Duchenne muscular dystrophy. Among the 2336 male babies tested, none proved to be affected and only 16 required second specimens to be obtained. Overall the false positive rate in the study was 0.78%. This study confirms that neonatal screening for Duchenne muscular dystrophy is feasible in a British hospital setting and is here most conveniently carried out on the 5th day of life along with routine testing for phenylketonuria.
摘要
在1976年11月至1980年9月期间，爱丁堡一家医院出生的2703名婴儿在新生儿期通过检测血清肌酸激酶水平来筛查杜氏肌营养不良症。在接受检测的2336名男婴中，没有一例被证实患病，只有16名婴儿需要再次采集样本。总体而言，该研究中的假阳性率为0.78%。这项研究证实，在英国医院环境中对杜氏肌营养不良症进行新生儿筛查是可行的，而且在这里最方便在出生后第5天与苯丙酮尿症的常规检测一起进行。
相似文献
1
Feasibility of neonatal screening for Duchenne muscular dystrophy.杜氏肌营养不良症新生儿筛查的可行性
J Med Genet. 1982 Feb;19(1):1-3. doi: 10.1136/jmg.19.1.1.
2
Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review.鉴定既往杜氏肌营养不良症新生儿筛查方案中的非杜氏肌营养不良症阳性和假阴性结果：一项综述。
JAMA Neurol. 2016 Jan;73(1):111-6. doi: 10.1001/jamaneurol.2015.3537.
3
Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus.杜氏肌营养不良症的新生儿筛查：在塞浦路斯一项全国性试点项目中对肌酸激酶生物发光试验的一种新型半定量应用。
Genet Test. 1998;2(1):55-60. doi: 10.1089/gte.1998.2.55.
4
False positive creatine kinase test in hypothyroid male at risk for Duchenne muscular dystrophy.患有杜氏肌营养不良症风险的甲状腺功能减退男性肌酸激酶检测出现假阳性结果。
Lancet. 1984 Sep 15;2(8403):645-6. doi: 10.1016/s0140-6736(84)90643-3.
5
[Neonatal screening for duchenne myopathy by serum elevation of creatine phosphokinase activity. 5 years experience].
J Genet Hum. 1981 Mar;29(1):59-69.
6
[Screening for elevated creatine kinase activities for the early diagnosis of Duchenne muscular dystrophy].[通过筛查肌酸激酶活性升高进行杜氏肌营养不良症的早期诊断]
Fortschr Med. 1979 Oct 18;97(39):1733-6.
7
Creatine phosphokinase levels in the newborn and their use in screening for Duchenne muscular dystrophy.新生儿肌酸磷酸激酶水平及其在杜氏肌营养不良症筛查中的应用。
Arch Dis Child. 1979 May;54(5):362-6. doi: 10.1136/adc.54.5.362.
8
Screening for Duchenne muscular dystrophy.杜氏肌营养不良症的筛查
Arch Dis Child. 1994 Jun;70(6):551-2. doi: 10.1136/adc.70.6.551.
9
Fetal serum-creatine-phosphokinase not a valid predictor of Duchenne muscular dystrophy.
Lancet. 1978 Dec 9;2(8102):1251. doi: 10.1016/s0140-6736(78)92118-9.
10
Controversies about Duchenne muscular dystrophy. (1) Neonatal screening.
Dev Med Child Neurol. 1979 Jun;21(3):390-3. doi: 10.1111/j.1469-8749.1979.tb01633.x.
引用本文的文献
1
Duchenne Muscular Dystrophy Presenting as Incidental Hyper-Transaminasasemia in a Two-Month-Old Male.两个月大男婴以偶然发现的高转氨酶血症为表现的杜氏肌营养不良症
Cureus. 2023 Feb 26;15(2):e35498. doi: 10.7759/cureus.35498. eCollection 2023 Feb.
2
Implementation of Hospital-Based Supplemental Duchenne Muscular Dystrophy Newborn Screening (sDMDNBS): A Pathway to Broadening Adoption.基于医院的杜氏肌营养不良症新生儿补充筛查（sDMDNBS）的实施：扩大采用范围的途径
Int J Neonatal Screen. 2021 Nov 15;7(4):77. doi: 10.3390/ijns7040077.
3
Population-Wide Duchenne Muscular Dystrophy Carrier Detection by CK and Molecular Testing.人群中杜氏肌营养不良症携带者的 CK 和分子检测。
Biomed Res Int. 2020 Sep 27;2020:8396429. doi: 10.1155/2020/8396429. eCollection 2020.
4
A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy.杜氏肌营养不良新生儿筛查路线图
Int J Neonatal Screen. 2017 Jun;3(2):8. doi: 10.3390/ijns3020008. Epub 2017 Apr 7.
5
Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK).新生儿足跟血筛查杜氏肌营养不良症：威尔士（英国） 21 年经验。
Eur J Hum Genet. 2013 Oct;21(10):1049-53. doi: 10.1038/ejhg.2012.301. Epub 2013 Jan 23.
6
Clinic-based infant screening for duchenne muscular dystrophy: a feasibility study.基于门诊的杜氏肌营养不良症婴儿筛查：一项可行性研究。
PLoS Curr. 2012 May 2;4:e4f99c5654147a. doi: 10.1371/4f99c5654147a.
7
Experience with screening newborns for Duchenne muscular dystrophy in Wales.威尔士新生儿杜氏肌营养不良症筛查经验。
BMJ. 1993 Feb 6;306(6874):357-60. doi: 10.1136/bmj.306.6874.357.
8
Recognising and preventing Duchenne muscular dystrophy.认识和预防杜氏肌营养不良症。
Br Med J (Clin Res Ed). 1983 Oct 15;287(6399):1083-4. doi: 10.1136/bmj.287.6399.1083.
9
Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.杜氏肌营养不良症：发病机制及基因预防
Hum Genet. 1984;66(1):17-40. doi: 10.1007/BF00275183.
10
Screening for Duchenne muscular dystrophy.杜氏肌营养不良症的筛查
Arch Dis Child. 1989 Jul;64(7):1017-21. doi: 10.1136/adc.64.7.1017.
本文引用的文献
1
Serum enzymes in muscular dystrophy and certain other muscular and neuromuscular diseases. I. Serum glutamic oxalacetic transaminase.肌营养不良及某些其他肌肉和神经肌肉疾病中的血清酶。I. 血清谷草转氨酶
N Engl J Med. 1957 Jun 6;256(23):1069-75. doi: 10.1056/NEJM195706062562301.
2
[Enzyme activity determination in progressive muscular dystrophy. IV. Serum enzymatic kinetics in the preclinical stage of the Duchenne type during the 1st 2 years of life].[进行性肌营养不良症的酶活性测定。IV. 杜兴型在生命最初2年临床前期的血清酶动力学]
Klin Wochenschr. 1966 Jun 15;44(12):695-700. doi: 10.1007/BF01790793.
3
Screening for inherited diseases.
N Engl J Med. 1971 Apr 8;284(14):787-8. doi: 10.1056/NEJM197104082841409.
4
The effects of genetic counselling in Duchenne muscular dystrophy.
Clin Genet. 1972;3(2):147-50. doi: 10.1111/j.1399-0004.1972.tb01736.x.
5
Newborn screening for Duchenne muscular dystrophy.杜氏肌营养不良症的新生儿筛查
Pediatrics. 1975 Jan;55(1):30-4.
6
Clinical studies in benign (Becker type) X-linked muscular dystrophy.
Clin Genet. 1976 Oct;10(4):189-201. doi: 10.1111/j.1399-0004.1976.tb00033.x.
7
Creatine kinase in human erythrocytes: a newly detected genetic anomaly.
Blut. 1978 Nov 13;37(5):249-56. doi: 10.1007/BF01539660.
8
Creatine phosphokinase levels in the newborn and their use in screening for Duchenne muscular dystrophy.新生儿肌酸磷酸激酶水平及其在杜氏肌营养不良症筛查中的应用。
Arch Dis Child. 1979 May;54(5):362-6. doi: 10.1136/adc.54.5.362.
9
[Systematic neonatal screening for Duchenne muscular dystrophy].
Nouv Presse Med. 1979 Apr 21;8(18):1491-3.
10
Antenatal diagnosis of Duchenne muscular dystrophy.
Lancet. 1979 Apr 21;1(8121):847-9. doi: 10.1016/s0140-6736(79)91264-9.
Zotero 插件