多内分泌腺瘤综合征的前瞻性基因筛查
Prospective Genetic Screening in Multiple Endocrine Neoplasia Syndromes.
作者信息
Paun Diana, Tilici Dana, Paun Sorin, Mirica Alexandra
机构信息
The Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Endocrinology Department, Emergency University Hospital Bucharest, 050098 Bucharest, Romania.
出版信息
Children (Basel). 2024 Aug 20;11(8):1012. doi: 10.3390/children11081012.
Abstract
Multiple endocrine neoplasia syndromes are a rare but potentially fatal pathology due to the lack of early diagnosis. We have performed a narrative review of the medical literature, summarizing the main clinical concepts useful in current clinical practice, showing the importance of screening and early diagnosis during childhood.
摘要
多发性内分泌肿瘤综合征是一种罕见但可能致命的病理状况，原因是缺乏早期诊断。我们对医学文献进行了叙述性综述，总结了当前临床实践中有用的主要临床概念，显示了儿童期筛查和早期诊断的重要性。
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本文引用的文献
1
The role of prophylactic parathyroidectomy during thyroidectomy for MTC in patients with MEN2A syndrome.MEN2A 综合征患者行甲状腺切除术时预防性甲状旁腺切除术的作用。
Folia Med (Plovdiv). 2023 Oct 31;65(5):720-727. doi: 10.3897/folmed.65.e86749.
2
A clinical perspective on ectopic Cushing's syndrome.异位库欣综合征的临床观点。
Trends Endocrinol Metab. 2024 Apr;35(4):347-360. doi: 10.1016/j.tem.2023.12.003. Epub 2023 Dec 23.
3
Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing.全外显子组测序鉴定家族性甲状腺癌的新候选基因。
Int J Mol Sci. 2023 Apr 25;24(9):7843. doi: 10.3390/ijms24097843.
4
MALIGNANT PARAGANGLIOMA NON-RESPONSIVE TO MIBG IN MEN2A SYNDROME.2A型多发性内分泌腺瘤综合征中对间碘苄胍无反应的恶性副神经节瘤
Acta Endocrinol (Buchar). 2022 Oct-Dec;18(4):536-537. doi: 10.4183/aeb.2022.536.
5
The Pheochromocytoma/Paraganglioma syndrome: an overview on mechanisms, diagnosis and management.《嗜铬细胞瘤/副神经节瘤综合征：机制、诊断与治疗概述》。
Int Braz J Urol. 2023 May-Jun;49(3):307-319. doi: 10.1590/S1677-5538.IBJU.2023.0038.
6
Diagnostic tests for medullary thyroid carcinoma: an umbrella review.甲状腺髓样癌的诊断检测：伞式综述。
Endocrine. 2023 Aug;81(2):183-193. doi: 10.1007/s12020-023-03326-6. Epub 2023 Mar 6.
7
Multiple endocrine neoplasia type 4: a new member of the MEN family.多发性内分泌瘤4型：MEN家族的新成员。
Endocr Connect. 2023 Jan 24;12(2). doi: 10.1530/EC-22-0411. Print 2023 Feb 1.
8
Management of medullary carcinoma of the thyroid: a review.甲状腺髓样癌的治疗：综述。
J Int Med Res. 2022 Jul;50(7):3000605221110698. doi: 10.1177/03000605221110698.
9
MEN2A syndrome presenting as medullary thyroid cancer metastasizing into the pheochromocytoma.表现为髓样甲状腺癌转移至嗜铬细胞瘤的MEN2A综合征。
Asian J Surg. 2022 May;45(5):1143-1144. doi: 10.1016/j.asjsur.2022.01.078. Epub 2022 Mar 9.
10
MEN1 Surveillance Guidelines: Time to (Re)Think?MEN1监测指南：是时候（重新）思考了吗？
J Endocr Soc. 2022 Jan 11;6(2):bvac001. doi: 10.1210/jendso/bvac001. eCollection 2022 Feb 1.
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