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约旦儿童囊性纤维化的早期诊断

Early diagnosis of cystic fibrosis in Jordanian children.

作者信息

Nazer H M

机构信息

Department of Paediatrics, Faculty of Medicine, University of Jordan, Amman.

出版信息

J Trop Pediatr. 1992 Jun;38(3):113-5. doi: 10.1093/tropej/38.3.113.

Abstract

Cystic fibrosis (CF) is the most common fatal genetic disease in childhood. The high infant mortality rate in Jordan and many other developing countries is mostly due to an increased prevalence of malnutrition, diarrhoeal diseases, and chest infections, which are also recognized clinical features of CF. Reports of CF among Arabs in neighbouring countries have stimulated clinical studies to evaluate the prevalence and incidence of this disease among Jordanian children. In a prospective study, 7682 neonates from 10 different hospitals in Jordan were screened for CF using the BM test for meconium albumin. Four cases gave a positive reaction to BM test strips. Cystic fibrosis was confirmed in three by sweat chloride test using pilocarpine iontophoresis. This represents an incidence of 1:2560 live births. In spite of the recognized limitations for the use of the BM test on meconium for mass screening of CF, this study has contributed to the increased awareness of the occurrence of CF among Jordanian children.

摘要

囊性纤维化(CF)是儿童期最常见的致命性遗传病。约旦和许多其他发展中国家婴儿死亡率高,主要是由于营养不良、腹泻病和胸部感染的患病率增加,而这些也是CF公认的临床特征。邻国阿拉伯人中CF的报告促使开展临床研究,以评估约旦儿童中这种疾病的患病率和发病率。在一项前瞻性研究中,对约旦10家不同医院的7682名新生儿使用胎粪白蛋白的苯甲酰甲磺酰氟(BM)试验进行CF筛查。4例对BM试纸条呈阳性反应。通过毛果芸香碱离子导入法进行汗液氯化物试验,确诊3例为囊性纤维化。这代表活产发病率为1:2560。尽管在使用胎粪BM试验进行CF大规模筛查方面存在公认的局限性,但这项研究有助于提高对约旦儿童中CF发生情况的认识。

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