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新生儿囊性纤维化筛查

Cystic fibrosis screening in the newborn.

作者信息

Robinson P G, Elliot R B

出版信息

Arch Dis Child. 1976 Apr;51(4):301-4. doi: 10.1136/adc.51.4.301.

DOI:10.1136/adc.51.4.301
PMID:1275544
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1545942/
Abstract

A new technique of measuring stool enzyme activity on dry specimens of faeces from newborn children at 4-5 days of age has detected 3 cases of cystic fibrosis in the first 6000 tests. No known cases of cystic fibrosis have been missed. Additionally, one case of pancreatic achylia of at least 4 months' duration has been detected. It is proposed that the detection of cystic fibrosis by this technique is sufficiently practical to be acceptable as a worthwhile newborn screening programme. The screening test has been in use in Auckland for over a year and is now being set up in Hamilton, Wellington, and Dunedin (New Zealand), and Sydney (Australia).

摘要

一种用于检测4至5日龄新生儿粪便干标本中粪便酶活性的新技术,在前6000次检测中发现了3例囊性纤维化病例。没有漏诊已知的囊性纤维化病例。此外,还检测出1例病程至少4个月的胰腺无酸症病例。有人提出,用这种技术检测囊性纤维化足够实用,可作为一项有价值的新生儿筛查项目被接受。这项筛查试验在奥克兰已经使用了一年多,目前正在汉密尔顿、惠灵顿和但尼丁(新西兰)以及悉尼(澳大利亚)开展。

相似文献

1
Cystic fibrosis screening in the newborn.新生儿囊性纤维化筛查
Arch Dis Child. 1976 Apr;51(4):301-4. doi: 10.1136/adc.51.4.301.
2
Rapid semiquantitative tests for trypsin and chymotrypsin application to screening for cystic fibrosis, enterokinase deficiency and pancreatic hypoplasia in neonates.用于新生儿囊性纤维化、肠激酶缺乏症和胰腺发育不全筛查的胰蛋白酶和糜蛋白酶快速半定量检测
N Z Med J. 1974 Jun 12;79(517):1024-6.
3
Screening for cystic fibrosis by a stool trypsin method.通过粪便胰蛋白酶法筛查囊性纤维化。
Arch Dis Child. 1981 Feb;56(2):151-3. doi: 10.1136/adc.56.2.151.
4
Fecal chymotrypsin: a new diagnostic test for exocrine pancreatic insufficiency in children with cystic fibrosis.
Clin Biochem. 1985 Aug;18(4):233-4. doi: 10.1016/s0009-9120(85)80046-1.
5
Stool trypsin and chymotrypsin. Value in the diagnosis of pancreatic insufficiency in cystic fibrosis.粪便胰蛋白酶和糜蛋白酶。在囊性纤维化胰腺功能不全诊断中的价值。
Am J Dis Child. 1966 Dec;112(6):536-40. doi: 10.1001/archpedi.1966.02090150080005.
6
Is chymotrypsin output a better diagnostic index than the measurement of chymotrypsin in random stool?糜蛋白酶排出量是否比随机粪便中糜蛋白酶的测量更具诊断价值?
Enzyme. 1988;39(4):190-8. doi: 10.1159/000469118.
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Stool elastase as a diagnostic test for pancreatic function in children with cystic fibrosis.粪便弹性蛋白酶作为囊性纤维化患儿胰腺功能的诊断检测方法。
Lancet. 1997 Oct 4;350(9083):1001. doi: 10.1016/S0140-6736(97)24040-7.
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Faecal chymotrypsin concentrations in neonates with cystic fibrosis and healthy controls.患有囊性纤维化的新生儿与健康对照组的粪便糜蛋白酶浓度。
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[Studies on the value of fecal tryptic and chymotryptic activity in the diagnosis and therapy of cystic fibrosis (author's transl)].[粪便胰蛋白酶和糜蛋白酶活性在囊性纤维化诊断与治疗中的价值研究(作者译)]
Eur J Pediatr. 1976 May 4;122(2):107-15. doi: 10.1007/BF00466269.
10
Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program.
N Engl J Med. 1990 Feb 1;322(5):303-8. doi: 10.1056/NEJM199002013220505.

引用本文的文献

1
Satisfactory screening for cystic fibrosis with the BM meconium procedure.采用BM胎粪检查法对囊性纤维化进行的筛查结果令人满意。
J Clin Pathol. 1981 Aug;34(8):911-3. doi: 10.1136/jcp.34.8.911.

本文引用的文献

1
A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis.通过离子电渗疗法使用毛果芸香碱对胰腺囊性纤维化患者汗液中的电解质浓度进行检测。
Pediatrics. 1959 Mar;23(3):545-9.
2
Cystic fibrosis of the pancreas with varying degrees of pancreatic insufficiency.伴有不同程度胰腺功能不全的胰腺囊性纤维化
AMA J Dis Child. 1956 Oct;92(4):347-68. doi: 10.1001/archpedi.1956.02060030341004.
3
Excretion of sodium and potassium in human sweat.人体汗液中钠和钾的排泄。
J Clin Invest. 1956 Jan;35(1):114-20. doi: 10.1172/JCI103245.
4
Stool trypsin and chymotrypsin. Value in the diagnosis of pancreatic insufficiency in cystic fibrosis.粪便胰蛋白酶和糜蛋白酶。在囊性纤维化胰腺功能不全诊断中的价值。
Am J Dis Child. 1966 Dec;112(6):536-40. doi: 10.1001/archpedi.1966.02090150080005.
5
Studies in cystic fibrosis. Report of 130 patients diagnosed under 3 months of age over a 20-year period.囊性纤维化研究。20年间130例3个月内确诊的患者报告。
Pediatrics. 1970 Sep;46(3):335-43.
6
Rapid semiquantitative tests for trypsin and chymotrypsin application to screening for cystic fibrosis, enterokinase deficiency and pancreatic hypoplasia in neonates.用于新生儿囊性纤维化、肠激酶缺乏症和胰腺发育不全筛查的胰蛋白酶和糜蛋白酶快速半定量检测
N Z Med J. 1974 Jun 12;79(517):1024-6.
7
Screening for cystic fibrosis by examination of meconium.通过胎粪检查筛查囊性纤维化。
Arch Dis Child. 1974 Aug;49(8):597-601. doi: 10.1136/adc.49.8.597.
8
Plasma proteins in meconium from normal infants and from babies with cystic fibrosis.正常婴儿和患有囊性纤维化婴儿胎粪中的血浆蛋白。
Arch Dis Child. 1974 Nov;49(11):901-4. doi: 10.1136/adc.49.11.901.
9
A simple method for the quantitative determination of stool trypsin and chymotrypsin.
Clin Chim Acta. 1975 Jul 23;62(2):225-9. doi: 10.1016/0009-8981(75)90231-4.