具有非典型功能和共存的CLDN16变体的家族性MEN1综合征:一个病例系列
Ioannis Petrakis1, Eleni Drosataki1, Dimitra Lygerou1
1Department of Nephrology, University of Crete, Voutes, 70500 Heraklion, Crete, Greece.
Journal of clinical medicine
|August 14, 2025
概括
在MEN1患者中的遗传变异可能导致意外的脏问题. 一项家庭研究表明,克劳丁16的变体可能会使多发性内分泌新陈代谢1型的症状恶化.
科学领域:
- 遗传学 遗传学 是一个
- 内分泌学 在内分泌学.
- 腎臟病學 (nephrology) 是一種醫學.
背景情况:
- 多发性内分泌新陈代谢1型 (MEN1) 是一种与MEN1基因突变相关的自体主导性疾病.
- MEN1主要用于内分泌瘤,但脏表现往往被忽视.
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