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肢端肥大症与常染色体显性多囊肾病并存的罕见病例:病例报告及文献简要综述

A RARE CASE OF ACROMEGALY AND AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE: CASE REPORT AND BRIEF REVIEW OF LITERATURE.

作者信息

Mangaraj Swayamsidha, Patro Debasish, Choudhury Arun Kumar, Baliarsinha Anoj Kumar

出版信息

AACE Clin Case Rep. 2019 Jun 7;5(5):e302-e306. doi: 10.4158/ACCR-2019-0128. eCollection 2019 Sep-Oct.

Abstract

OBJECTIVE

Acromegaly is a classic endocrine disorder caused by a growth hormone (GH)-secreting pituitary adenoma in an overwhelming majority of patients. The diagnosis may be delayed by several years due to the slow growing and insidious nature of the disease. Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by multiple renal cysts and various other systemic manifestations. The purpose of this article is to report a rare case of acromegaly with coexistent ADPKD.

METHODS

We report a case of 42-year-old female with acromegaly and ADPKD along with a brief review of literature.

RESULTS

The patient was referred to us for evaluation of progressive acral enlargement and coarsening of facial features. Endocrine evaluation confirmed the diagnosis of acromegaly due to an underlying GH-secreting pituitary macroadenoma. She was also found to have ADPKD. We discuss the clinical features and management of the patient.

CONCLUSION

The association of pituitary adenomas and ADPKD is very rare and interesting. All affected individuals with pituitary adenomas and ADPKD in the literature are women. Furthermore, all reported pituitary adenomas in these individuals (including ours) are functional GH-secreting ones. These findings argue against a mere chance association between the two diseases.

摘要

目的

肢端肥大症是一种典型的内分泌疾病,绝大多数患者由分泌生长激素(GH)的垂体腺瘤引起。由于该病生长缓慢且隐匿,诊断可能会延迟数年。常染色体显性多囊肾病(ADPKD)是一种遗传性疾病,其特征为多个肾囊肿及各种其他全身表现。本文旨在报告一例罕见的肢端肥大症合并ADPKD的病例。

方法

我们报告一例42岁患有肢端肥大症和ADPKD的女性病例,并对文献进行简要回顾。

结果

该患者因进行性肢端增大和面部特征变粗前来我院评估。内分泌评估证实因潜在的分泌GH的垂体大腺瘤导致肢端肥大症的诊断。她还被发现患有ADPKD。我们讨论了该患者的临床特征及治疗。

结论

垂体腺瘤与ADPKD的关联非常罕见且有趣。文献中所有患有垂体腺瘤和ADPKD的个体均为女性。此外,这些个体(包括我们的病例)中所有报告的垂体腺瘤均为分泌GH的功能性腺瘤。这些发现反对这两种疾病仅仅是偶然关联的观点。

相似文献

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Acromegaly without imaging evidence of pituitary adenoma.肢端肥大症,影像学未见垂体腺瘤证据。
J Clin Endocrinol Metab. 2010 Sep;95(9):4192-6. doi: 10.1210/jc.2010-0570. Epub 2010 Jul 7.
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Acromegaly accompanied by diabetes mellitus and polycystic kidney disease.肢端肥大症伴发糖尿病及多囊肾病。
Endocr J. 2021 Jan 28;68(1):103-110. doi: 10.1507/endocrj.EJ20-0173. Epub 2020 Aug 20.

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