21-羟化酶缺乏所致先天性肾上腺增生的临床分析

R. Bazarbekova, T. Ermakhanova, Oral Onlassynova, Ayaulym Alpan, A. Satybaldina, Ardak Orazbay, Malika Akhmerova, Aikerim Slamova, Zaure Mussakhanova
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摘要

21-羟化酶缺乏是一种最常见的遗传性疾病——先天性肾上腺增生症(CAH)的病因。21-羟化酶的残余活性水平决定了疾病的临床形式和病程的严重程度。本文介绍了两种形式的CAH的临床特点-盐浪费和单纯的男性化。目标。目的:探讨21-羟化酶缺乏症患儿CAH的临床特点。材料和方法。我们分析了57例存档病例和58例从0至18岁确诊为CAH的儿童病历摘录。总的来说,样本包含病例,其中36例为男孩(48%),39例为女孩(52%)。结果和讨论。在75例CAH患儿中,43例(57.3%)为盐消耗型,32例(42.7%)为单纯男性化型。失盐型患儿临床表现以失盐综合征为主,伴单纯的阳刚-阳刚综合征。诊断为盐流失形式的平均年龄为1.5个月(从1到2.6个月),单纯的男性化- 3年(从1.4到4.4岁)。结论。根据我们的数据,在哈萨克斯坦,消耗盐型СAH比简单的男性化型更常被诊断出来(57.3% / 42.7%)。发现了CAH的及时诊断和儿童护照性别选择的问题。关键词:先天性肾上腺增生,21-羟化酶缺乏,盐耗型,单纯阳刚型。
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Clinical aspects of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
21-hydroxylase deficiency is the cause of one of the most common hereditary diseases - congenital adrenal hyperplasia (CAH). The level of residual activity of 21-hydroxylase determines the clinical form and severity of the course of the disease. The article presents the clinical characteristics of two forms of CAH – salt-wasting and simple virilizing. Objective. To study the clinical aspects of CAH due to 21-hydroxylase deficiency in children. Material and methods. We analyzed 57 archived case histories and 58 extracts from case histories of children from 0 to 18 years old with an established diagnosis of CAH. In general, the sample comprised cases, of which 36 were boys (48%) and 39 (52%) girls. Results and discussion. Of the 75 children with CAH, 43 (57.3%) had a salt-wasting form, 32 (42.7%) had a simple virilizing form. In children with salt-wasting form, the leading clinical manifestation was salt loss syndrome, with simple virilizing - viril syndrome. The average age of diagnosis with salt-wasting form was 1.5 months (from 1 to 2.6 months), with simple virilizing - 3 years (from 1.4 to 4.4 years). Conclusions. According to our data, in Kazakhstan, the salt- wasting form of СAH is diagnosed more often than a simple virilizing form (57.3% / 42.7%). The problems of timely diagnosis of CAH and in the selection of the appropriate passport gender of the child were identified. Keywords: congenital adrenal hyperplasia, 21-hydroxylase deficiency, salt-wasting form, simple virilizing form.
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