家族性糖皮质激素缺乏的研究进展

Q4 Medicine

中华内分泌代谢杂志 Pub Date : 2019-10-25 DOI:10.3760/CMA.J.ISSN.1000-6699.2019.10.016

Ai-Lin Luo, Zhi-fang Wang, Xia-lian Li

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引用次数: 0

摘要

家族性糖皮质激素缺乏症(Familial glucocorticoid deficiency, FGD)是一种罕见的常染色体隐性遗传病，以单一皮质醇缺乏、醛固酮和肾素水平正常为特征，1959年由Shepard等人首次报道。FGD的发病年龄可早或晚，从新生儿到成人。发病年龄不同，临床表现也不同。该病与其他原因引起的原发性肾上腺功能不全(PAI)有许多相似之处，临床鉴定困难，易误诊。关键词:家族性糖皮质激素缺乏症;基因突变

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Progress in the study of familial glucocorticoid deficiency

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by a single cortisol deficiency and normal aldosterone and renin levels, reported by Shepard et al. in 1959 for the first time. The onset age of FGD may be early or later, from neonatal to adult. The clinical manifestations vary due to the different age at onset. The clinical identification was difficult and would be prone to misdiagnosis because the disease may have many similarities with primary adrenal insufficiency (PAI) caused by other reasons. Key words: Familial glucocorticoid deficiency; Gene mutations

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来源期刊

中华内分泌代谢杂志 Medicine-Endocrinology, Diabetes and Metabolism

CiteScore

0.60

自引率

0.00%

发文量

7243

期刊介绍： The Chinese Journal of Endocrinology and Metabolism was founded in July 1985. It is a senior academic journal in the field of endocrinology and metabolism sponsored by the Chinese Medical Association. The journal aims to be the "Chinese broadcaster of new knowledge on endocrinology and metabolism worldwide". It reports leading scientific research results and clinical diagnosis and treatment experience in endocrinology and metabolism and related fields, as well as basic theoretical research that has a guiding role in endocrinology and metabolism clinics and is closely integrated with clinics. The journal is a core journal of Chinese science and technology (a statistical source journal of Chinese science and technology papers), and is included in Chinese and foreign statistical source journal databases such as the Chinese Science and Technology Papers and Citation Database, Chemical Abstracts, and Scopus.