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新生儿先天性甲状腺功能减退症和苯丙酮尿症筛查

[Neonatal screening for congenital hypothyroidism and phenylketonuria].

作者信息

Velázquez A, Loera-Luna A, Aguirre B E, Gamboa S, Vargas H, Robles C

机构信息

Unidad de Genética de la Nutrición, Universidad Nacional Autónoma de México.

出版信息

Salud Publica Mex. 1994 May-Jun;36(3):249-56.

PMID:7940004
Abstract

A newborn screening program for congenital hypothyroidism (CH) and phenylketonuria (PKU) was conducted in 140 163 infants from the Federal District and the states of Mexico and Tlaxcala. These children were born mainly in hospitals for the non-insured population, although some were social security beneficiaries. Their filter-paper blood TSH and phenylalanine concentrations were determined 48 hours after birth. The frequency of CH was 1:1 797, with a 95 per cent confidence interval of 1:1 470 to 1:2 315, and was quite similar in the different types of hospitals. Only two PKU cases were found, for a frequency of 1:70 082, with a 95 per cent confidence interval of 0 to 1:4 762. This work demonstrates the feasibility of newborn screening programs in Mexico, identifies the problems to be solved in order to achieve a wide coverage and establishes the high frequency of CH in the Mexican population.

摘要

针对先天性甲状腺功能减退症(CH)和苯丙酮尿症(PKU),在联邦区以及墨西哥州和特拉斯卡拉州的140163名婴儿中开展了一项新生儿筛查项目。这些儿童主要在面向非参保人群的医院出生,不过也有一些是社会保障受益人。在他们出生48小时后测定了滤纸片血样中的促甲状腺激素(TSH)和苯丙氨酸浓度。CH的发病率为1:1797,95%置信区间为1:1470至1:2315,在不同类型医院中情况颇为相似。仅发现两例PKU病例,发病率为1:70082,95%置信区间为0至1:4762。这项工作证明了墨西哥新生儿筛查项目的可行性,明确了为实现广泛覆盖需解决的问题,并确定了墨西哥人群中CH的高发病率。

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