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首页 > 医学词汇大全 > 21-Hydroxylase deficiency
21-Hydroxylase deficiency

内分泌

关键词内分泌 疾病 肾上腺增生疾病

词汇介绍

拓展阅读

解析

hydroxylase   英/hai'drɔksileis/ 

释    义   n. [生化] 羟化酶

例    句   A pair of specific primers of gene encoding phenol hydroxylase was designed by oligonucleotide high conservative sequence. 根据苯酚羟化酶基因高度保守序列设计一对该基因的特异引物。

 

deficiency   英 /dɪ'fɪʃ(ə)nsɪ/   美 /dɪ'fɪʃənsi/

释    义   n. 缺陷,缺点;缺乏;不足的数额

同根词   deficient adj. 不足的;有缺陷的;不充分的

               deficit n. 赤字;不足额

例    句   They did blood tests on him for signs of vitamin deficiency. 他们给他验了血,以检查是否有维生素缺乏的迹象。

概述

21-羟化酶缺乏症是先天性肾上腺增生(CAH)的最常见原因。在21-羟化酶缺乏症中,缺失的酶导致肾上腺产生的特定激素的过量产生。21-羟化酶缺乏症是由CYP21A2基因的遗传变化引起的,并且以常染色体隐性模式遗传。美国50个州都有新生儿筛查,以便在出生时检测这种疾病。诊断基于临床症状,生化和基因检测。治疗方法,包括通过类固醇和其他药物治疗。21-羟化酶缺乏症患者的长期前景取决于症状的严重程度和用药物治疗病情的情况。症状表现大多数患有21-羟化酶缺乏症的患者将具有典型的盐分丢失形式或简单的男性

A report of congenital adrenal hyperplasia due to 17a-hydroxylase deficiency in two 46,XX sisters复制标题

46,XX姐妹两例17a-羟化酶缺乏症先天性肾上腺皮质增生症报告

发表时间:2019-08-29

影响因子:1.4

作者: Fernando Espinosa-Herrera

期刊:GYNECOL ENDOCRINOL

Congenital adrenal hyperplasia (CAH) is a group of disorders, considered as rare orphan diseases, caused by mutations in seven different enzymes that impair adrenal corticosteroid biosynthesis. CAH are monogenetic diseases inherited in autosomal recessive fashion, with significant morbidity and mortality due to metabolic disorders, as a consequence of the imbalance of glucocorticoids and mineralocorticoids. The diagnosis and treatment of CAH is challenging because of the rarity and variability of its clinical manifestations, depending on the type and severity of the enzyme deficiency. Around 95% of CAH cases are caused by 21-hydroxylase deficiency, and the resting 5–8% are mainly due to 11b-hydroxylase deficiency. 17a-Hydroxylase deficiency (17OHD) is one of the less common forms of CAH, corresponding to approximately 1% of the cases, with an estimated annual incidence of about 1 in 50,000 newborns. The 17a-hydroxylase enzyme, which is expressed in gonads and adrenals, acts at two levels: (i) it catalyzes the 17ahydroxylation of pregnenolone and progesterone, and (ii) its lyase activity cleaves their products at 17,20 side chain. 17a-Hydroxylase, also known as P450c17, is a 508 amino acids protein, encoded by the CYP17A1 gene, which is located on chromosome 10 (10q24.32-q25) and is composed of eight exons. Approximately, 120 different mutations of CYP17A1 have been reported. These mutations impair the enzyme activity partially or completely, resulting in adrenal and gonadal sex steroid deficiency. 17OHD causes cortisol synthesis blockage; that leads to adrenocorticotropic hormone (ACTH) accumulation and further activation of the 17-deoxy pathway of the zona fasciculata producing overstimulation of this pathway and increasing progesterone, corticosterone and deoxycorticosterone (DOC) synthesis. Importantly, the excessive mineralocorticoid activity reduces renin activity and decreases aldosterone levels.

译文

先天性肾上腺皮质增生症(CAH)是一组被认为是罕见孤儿疾病的疾病,由7种不同酶的突变引起,这些酶会损害肾上腺皮质类固醇的生物合成。 CAH是以常染色体隐性遗传方式遗传的单基因疾病,由于糖皮质激素和盐皮质激素的不平衡,由于代谢紊乱而具有显着的发病率和死亡率。 CAH的诊断和治疗具有挑战性,因为其临床表现的稀有性和可变性,取决于酶缺乏的类型和严重程度。大约95%的CAH病例是由21-羟化酶缺乏引起的,静息5-8%主要是由于11b-羟化酶缺乏引起的。 17α-羟化酶缺乏症(17OHD)是较不常见的CAH形式之一,相当于约1%的病例,估计每年约50,000个新生儿发病率。在性腺和肾上腺中表达的17α-羟化酶在两个水平起作用:(i)它催化孕烯醇酮和孕酮的17-羟基化,和(ii)其裂解酶活性在17,20侧链裂解它们的产物。 17α-羟化酶,也称为P450c17,是由CYP17A1基因编码的508个氨基酸的蛋白质,其位于10号染色体(10q24.32-q25)上,由8个外显子组成。已经报道了大约120种不同的CYP17A1突变。这些突变部分或完全损害酶活性,导致肾上腺和性腺性类固醇缺乏。 17OHD导致皮质醇合成阻塞;这导致促肾上腺皮质激素(ACTH)积累和进一步激活束状带的17-脱氧途径,产生过度刺激该途径并增加孕酮,皮质酮和脱氧皮质酮(DOC)合成。重要的是,过量的盐皮质激素活性会降低肾素活性并降低醛固酮水平。