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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