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肢端肥大症:一种诊断颇具挑战性的病症。

Acromegaly: a challenging condition to diagnose.

作者信息

AlDallal Salma

机构信息

Haematology & Blood Bank Department, Amiri Hospital, Kuwait Ministry of Health, Sharq, Kuwait,

出版信息

Int J Gen Med. 2018 Aug 24;11:337-343. doi: 10.2147/IJGM.S169611. eCollection 2018.

DOI:10.2147/IJGM.S169611
PMID:30197531
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6112775/
Abstract

Acromegaly is an uncommon, chronic disease, characterized by hypersecretion of a pituitary growth hormone by somatotroph adenomas, along with increased levels of insulin-like growth factor-1. Although acromegaly presents a wide array of clinical manifestations, the salient symptoms include acral and soft tissue enlargement, joint pain, heart and respiratory failure, diabetes mellitus, and hypertension, leading to increased morbidity and mortality. Hence, early diagnosis of the disease is critical to enhance life expectancy and quality of life. New approaches are being developed for diagnosis and surveillance (both screening and follow-up), including sensitive biochemical assays and the use of MRI to visualize extremely small tumors, and are helpful in the early diagnosis of acromegaly, subsequent treatment, and disease control. This mini-review summarizes the most common and effective tools used in the diagnosis of acromegaly.

摘要

肢端肥大症是一种罕见的慢性疾病,其特征是生长激素细胞腺瘤导致垂体生长激素分泌过多,同时胰岛素样生长因子-1水平升高。尽管肢端肥大症有广泛的临床表现,但突出症状包括手足和软组织增大、关节疼痛、心脏和呼吸衰竭、糖尿病和高血压,导致发病率和死亡率增加。因此,该病的早期诊断对于提高预期寿命和生活质量至关重要。目前正在开发用于诊断和监测(筛查和随访)的新方法,包括敏感的生化检测和使用磁共振成像(MRI)来可视化极小的肿瘤,这些方法有助于肢端肥大症的早期诊断、后续治疗和疾病控制。本综述总结了肢端肥大症诊断中最常用且有效的工具。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3801/6112775/18704e484152/ijgm-11-337Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3801/6112775/18704e484152/ijgm-11-337Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3801/6112775/18704e484152/ijgm-11-337Fig1.jpg

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Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder.揭开肢端肥大症的遗传奥秘:探索遗传学在一种罕见疾病中的作用。
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Cardiovascular Effects of Excess Growth Hormone: How Real is the Threat?

本文引用的文献

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Acromegaly discovered during a routine out-patient surgical procedure: a case report.在常规门诊手术过程中发现的肢端肥大症:一例病例报告。
J Med Case Rep. 2017 Jun 24;11(1):169. doi: 10.1186/s13256-017-1338-8.
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Incidence and prevalence of clinically relevant pituitary adenomas: retrospective cohort study in a Health Management Organization in Buenos Aires, Argentina.临床相关垂体腺瘤的发病率和患病率:阿根廷布宜诺斯艾利斯一家健康管理机构的回顾性队列研究。
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Somatostatin analogues in acromegaly and gastroenteropancreatic neuroendocrine tumours: past, present and future.
生长激素过量的心血管影响:威胁究竟有多大?
Rev Cardiovasc Med. 2023 Mar 23;24(4):95. doi: 10.31083/j.rcm2404095. eCollection 2023 Apr.
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Simultaneous rectal neuroendocrine tumors and pituitary adenoma: A case report and review of literature.直肠神经内分泌肿瘤与垂体腺瘤同时存在:病例报告及文献复习。
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Prospect of acromegaly therapy: molecular mechanism of clinical drugs octreotide and paltusotine.肢端肥大症治疗的展望:临床药物奥曲肽和帕妥珠单抗的分子机制。
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Genome wide analysis of circulating miRNAs in growth hormone secreting pituitary neuroendocrine tumor patients' plasma.生长激素分泌型垂体神经内分泌肿瘤患者血浆中循环miRNA的全基因组分析。
Front Oncol. 2022 Sep 9;12:894317. doi: 10.3389/fonc.2022.894317. eCollection 2022.
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Prevalence of comorbidities and concomitant medication use in acromegaly: analysis of real-world data from the United States.肢端肥大症的合并症和伴随药物使用的流行情况:来自美国真实世界数据的分析。
Pituitary. 2022 Apr;25(2):296-307. doi: 10.1007/s11102-021-01198-5. Epub 2022 Jan 1.
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Patient-Identified Problems and Influences Associated With Diagnostic Delay of Acromegaly: A Nationwide Cross-Sectional Study.患者识别的问题和与肢端肥大症诊断延迟相关的影响:一项全国性的横断面研究。
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