[在获得马德里自治区新生儿筛查计划结果之前,对因21-羟化酶缺乏症而患有先天性肾上腺皮质增生症的患者的临床可疑程度进行分析]。

IF 0.9 4区 医学 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH
Revista Espanola De Salud Publica Pub Date : 2020-12-16
María Sanz Fernández, Marina Mora Sitja, Lucía Carrascón González Pinto, Amparo Rodríguez Sánchez
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引用次数: 0

摘要

研究目的本研究的目的是分析患者在收到新生儿21羟化酶缺乏症(21OHD)筛查结果时的临床怀疑和所处的位置:本研究数据来自对一组通过新生儿筛查发现并在马德里自治区临床随访中心接受治疗的典型 21OHD 患者的回顾性分析。使用SPSS®软件15.5版对数据进行了统计分析:从 1990 年到 2015 年,共有 46 名儿童被诊断出患有典型的 21OHD [36 人患有盐耗损型 (SW),10 人患有单纯男性化型 (SV)]。SW型和SV型患者的诊断年龄中位数分别为8.0(6.0-9.0)天和18.0(14.5-37.5)天(P=0.001)。35名(76.1%)患者在新生儿筛查结果出来之前未被怀疑患有此病,28名患者为SW型,有可能因肾上腺危象而死亡(其中6名妇女在出生时性别分配有误),7名患者为SV型。通过新生儿筛查发现的典型形式的患者中,有三分之二的患者在家中未被怀疑患有任何疾病,也未进行任何其他研究:新生儿筛查的效果优于临床怀疑。在大多数通过新生儿筛查发现的 21OHD 患者中,即使是生殖器不明显的女性患者,筛查诊断结果也比临床怀疑的结果要好。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Analysis of the degree of clinical suspect in patients with congenital adrenal hyperplasia by 21-hydroxylase deficiency before obtaining the result of the newborn screening program of the autonomous Community of Madrid.]

Objective: The objective of this study was to analyze the clinical suspicion and where the patients were when they received the result of the neonatal screening for 21 hydroxylase deficiency (21OHD).

Methods: The present data were derived from a retrospective analysis of a group of patients with classical 21OHD discovered by newborn screening and treated at the Center for Clinical Follow-up of the Autonomous Community of Madrid. Stadistic analysis of the data was performed using version 15.5 of the SPSS® software.

Results: During the period from 1990 to 2015 of this study 46 children were diagnosed with classical 21OHD [36 with the salt-wasting (SW) and 10 with simple virilizing form (SV)]. The median age at diagnosis for the patients with the SW and SV form were 8.0 (6.0-9.0) and 18.0 (14.5-37.5) days respectively (P=0.001). In 35 (76.1%) patients the disease had not been suspected before the result of newborn screening, 28 patients affected by SW form, with a potential risk of death due to adrenal crisis (of which, in addition 6 women with incorrect assignment of sex at birth) and 7 patients affected with SV form. Two thirds of the patients with classic forms identified by neonatal screening were in their homes without suspicion of any disease or pending any additional study.

Conclusions: Neonatal screening provided better performance than clinical suspicion. In the majority of patients with 21OHD detected by newborn screening, the diagnosis by screening was anticipated to the clinical suspicion of the disease even in female patients with ambiguous genitalia.

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来源期刊
Revista Espanola De Salud Publica
Revista Espanola De Salud Publica PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH-
CiteScore
2.00
自引率
0.00%
发文量
106
审稿时长
12 weeks
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