新生儿出现家族性糖皮质激素缺乏伴MRAP突变:1例报告

Q4 Medicine

中华内分泌代谢杂志 Pub Date : 2020-04-25 DOI:10.3760/CMA.J.CN311282-20190710-00265

Yingfang Yu, An Chen, Ji-yan Zheng, Lihua Chen, L. Du

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引用次数: 0

摘要

本文总结了1例家族性糖皮质激素缺乏症婴儿的临床表现、实验室检查和影像学检查。患者表现为呼吸困难、发绀、全身皮肤色素沉着，未见惊厥及低血糖。实验室结果显示低血皮质醇和高血ACTH水平。1-bp纯合缺失(c。在患者黑素皮质素2受体辅助蛋白(MRAP)基因内含子3中发现106+ 1delG)。其父母为同一突变的杂合携带者，无临床表现。关键词:家族性糖皮质激素缺乏症;参与ACTH缺乏;黑素皮质素2受体辅助蛋白;治疗

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Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: one case report

The clinical manifestation, laboratory findings, and imaging examination of a baby with familial glucocorticoid deficiency were summarized. The patient presented achypnea, cyanosis, and pigmentation of the whole body skin, no convulsion and hypoglycemia found. Laboratory findings revealed low blood cortisol and high blood ACTH levels. A 1-bp homozygous deletion(c.106+ 1delG) in intron 3 of melanocortin 2 receptor accessory protein(MRAP) gene in the patient was found. His parents were found to be heterozygous carrier for the same mutation, without any clinical manifestation. Key words: Familial glucocorticoid deficiency; ACTH unresponsiveness; Melanocortin 2 receptor accessory protein; Treatment

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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.