对巴西里约热内卢州323名新生儿进行的先天性代谢缺陷调查。

A survey on inborn errors of metabolism in 323 neonates from the state of Rio de Janeiro, Brazil.

作者信息

de Oliveira Maria Lúcia Costa, Simoni Ruth Ellen, dos Santos Cláudia Maria Rangel de Carvalho, Fernandes Márcia Jusan, Braga Marcela Jaqueline, de Albuquerque Renata Moesia, Gomes Luís Nelson Lopes Ferreira, Correia Patrícia Santana, Fernandes Alexandre Ribeiro, Berditchevsky Célia Ruth, Bernstein Any, de Oliveira Cesário Paulo Honório

机构信息

Departamento de Bioquímica, Instituto de Química, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.

出版信息

Community Genet. 2002;5(4):257-61. doi: 10.1159/000066686.

DOI:10.1159/000066686

PMID:14960880

Abstract

Inborn errors of metabolism (IEM) are a relevant cause of morbidity and death among children, and neonates in particular. However, little is known about the prevalence of these disorders in Brazilian newborns. Our laboratory of IEM (LABEIM) at the Department of Biochemistry, Institute of Chemistry, Federal University of Rio de Janeiro (UFRJ), has been working on the diagnosis of IEM since 1988. Out of 3,300 patients (90% children), screened and evaluated from 1989 to 2,000 because of a high clinical suspicion of having an IEM, 323 (9.8%) were neonates. Patients came from different regions of the state of Rio de Janeiro, in which lives approximately 8.5% of the total Brazilian population. Chemical tests, various chromatographic techniques and enzyme assays were performed in urine, plasma and in some cases, cerebrospinal fluid (CSF). This study describes our laboratory and the experience with the 323 investigated neonates, among which 28 cases (8.7%) of IEM were identified and 18 (5.6%), strongly suspected. All these cases were related mainly to the metabolism of amino acids, organic acids, lysosomal enzymes and carbohydrates. Furthermore, data on population, community and health services are presented.

摘要

先天性代谢缺陷（IEM）是儿童尤其是新生儿发病和死亡的一个相关原因。然而，对于这些疾病在巴西新生儿中的患病率知之甚少。我们位于里约热内卢联邦大学（UFRJ）化学研究所生物化学系的IEM实验室（LABEIM）自1988年以来一直致力于IEM的诊断。在1989年至2000年期间，因高度怀疑患有IEM而接受筛查和评估的3300名患者（90%为儿童）中，有323名（9.8%）是新生儿。患者来自里约热内卢州的不同地区，该州居住着约8.5%的巴西总人口。对尿液、血浆以及某些情况下的脑脊液（CSF）进行了化学检测、各种色谱技术和酶分析。本研究描述了我们的实验室以及对323名接受调查的新生儿的经验，其中确诊了28例（8.7%）IEM，另有18例（5.6%）高度怀疑。所有这些病例主要与氨基酸、有机酸、溶酶体酶和碳水化合物的代谢有关。此外，还提供了关于人口、社区和卫生服务的数据。