双侧肾上腺皮质腺瘤并发原发性醛固酮增多症和库欣综合征妊娠病例的诊断和治疗方法。

IF 3.7 3区 医学 Q2 Medicine Endocrine Pub Date : 2024-10-08 DOI:10.1007/s12020-024-04058-x
Yanxi Chen, Lu Tan, Tao Chen, Haoming Tian, Li Li, Yan Ren
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引用次数: 0

摘要

醛固酮/皮质醇共分泌腺瘤(A/CPA)是原发性醛固酮增多症(PA)的一种罕见类型,而妊娠期醛固酮/皮质醇共分泌腺瘤的病例极为罕见,迄今尚无报道。妊娠期的独特生理状态会通过下丘脑-垂体-肾上腺(HPA)轴增加皮质醇的分泌,并导致肾素-血管紧张素-醛固酮系统(RAAS)所有成分的水平升高。这会导致皮质醇和醛固酮分泌异常的重叠症状,使诊断变得非常困难。本病例涉及一名 29 岁女性,她在怀孕 33 周时出现皮质醇增多症。尽管她接受了症状治疗并顺利分娩,但产后仍出现高血压和低钾血症。最终,她被诊断为 ACTH 依赖性库欣综合征和原发性醛固酮增多症,原因是双侧肾上腺腺瘤可独立分泌皮质醇和醛固酮。经过全面的诊断、分类、治疗和随访,该患者获得了临床治愈,同时保留了正常的肾上腺功能。进一步研究发现,这两种疾病都是由双侧肾上腺腺瘤中发现的 KCNJ5 和 PRKACA 突变引起的。
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Diagnostic and therapeutic approaches to a case of pregnancy complicated by bilateral adrenocortical adenomas with primary aldosteronism and Cushing's syndrome.

Aldosterone/cortisol co-secreting adenomas (A/CPA) are a rare type of primary aldosteronism(PA), and cases of aldosterone/cortisol co-secreting adenomas during pregnancy are extremely rare, with no reported cases to date. The unique physiological state of pregnancy increases cortisol secretion through the hypothalamic-pituitary-adrenal (HPA) axis and leads to elevated levels of all components of the renin-angiotensin-aldosterone system (RAAS). This can cause overlapping symptoms with abnormal cortisol and aldosterone secretion, making diagnosis very challenging. This case involves a 29-year-old woman who developed hypercortisolism at 33 weeks of pregnancy. Despite receiving treatment for her symptoms and having a successful delivery, she continued to experience hypertension and hypokalaemia after giving birth. Eventually, she was diagnosed with ACTH-independent Cushing's syndrome and primary aldosteronism due to independent cortisol and aldosterone secretion from bilateral adrenal adenomas. Following a thorough diagnosis, classification, treatment, and follow-up, the patient achieved a clinical cure while preserving normal adrenal function. Further investigation revealed that both diseases were caused by KCNJ5 and PRKACA mutations found in the bilateral adrenal adenomas.

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来源期刊
Endocrine
Endocrine 医学-内分泌学与代谢
CiteScore
6.40
自引率
5.40%
发文量
0
期刊介绍: Well-established as a major journal in today’s rapidly advancing experimental and clinical research areas, Endocrine publishes original articles devoted to basic (including molecular, cellular and physiological studies), translational and clinical research in all the different fields of endocrinology and metabolism. Articles will be accepted based on peer-reviews, priority, and editorial decision. Invited reviews, mini-reviews and viewpoints on relevant pathophysiological and clinical topics, as well as Editorials on articles appearing in the Journal, are published. Unsolicited Editorials will be evaluated by the editorial team. Outcomes of scientific meetings, as well as guidelines and position statements, may be submitted. The Journal also considers special feature articles in the field of endocrine genetics and epigenetics, as well as articles devoted to novel methods and techniques in endocrinology. Endocrine covers controversial, clinical endocrine issues. Meta-analyses on endocrine and metabolic topics are also accepted. Descriptions of single clinical cases and/or small patients studies are not published unless of exceptional interest. However, reports of novel imaging studies and endocrine side effects in single patients may be considered. Research letters and letters to the editor related or unrelated to recently published articles can be submitted. Endocrine covers leading topics in endocrinology such as neuroendocrinology, pituitary and hypothalamic peptides, thyroid physiological and clinical aspects, bone and mineral metabolism and osteoporosis, obesity, lipid and energy metabolism and food intake control, insulin, Type 1 and Type 2 diabetes, hormones of male and female reproduction, adrenal diseases pediatric and geriatric endocrinology, endocrine hypertension and endocrine oncology.
期刊最新文献
Correction: Comparison between surgical and non-surgical management of primary hyperparathyroidism during pregnancy: a systematic review. Women and lipoprotein apheresis: another side of gender medicine. Diabetes current and future translatable therapies. Timing of the repeat thyroid fine-needle aspiration biopsy: does early repeat biopsy change the rate of nondiagnostic or atypia of undetermined significance cytology result? A comparison of brown fat tissue related hormone levels in metabolically healthy and unhealthy individuals with obesity.
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