关于非CAH儿科原发性上腺功能衰竭的见解:来自印度的单一中心经验
Aaditya Daga1, Manjiri Karlekar1, Anurag Lila1
1Department of Endocrinology and Metabolism, Seth G S Medical College and KEM Hospital, Mumbai, India.
Journal of pediatric endocrinology & metabolism : JPEM
|February 3, 2025
概括
这项研究强调了印度儿科初级上腺功能不足 (PAI) 的各种原因,超出了先天性上腺增生 (CAH). 基因检测对于准确的诊断和制定PAI的特定区域管理策略至关重要.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 儿童原发性上腺功能衰竭 (PAI) 在全球有多种原因,印度的数据有限.
- 先天性上腺增生 (CAH) 是一个常见的原因,但存在其他病因,可能会呈现区域差异.
研究的目的:
- 在印度队列中划分儿科PAI的病因概况,临床表现和遗传基础,不包括CAH.
- 了解印度儿童和青少年非CAHPAI的范围.
主要方法:
- 从1998年到2023年对儿科PAI患者 (发病年龄小于20岁) 的回顾性分析.
- 排除患有CAH,数据不足或双侧上腺切除术的患者.
- 对人口,临床,生化和遗传数据的分析.
主要成果:
- 最常见的原因是腺核细胞损伤 (40%),其次是ACTH抵抗状态 (20%) 和早期类固醇缺陷 (13.3%).
- 常见的症状包括多色素 (90.7%),上腺危机 (33.3%) 和发作 (29.6%).
- 基因测试发现了新型变异,并澄清了诊断,包括区分CYP11A1突变和识别带有淋巴腺失调的NNT突变. 上腺结核是一种独特的发现.
结论:
- 印度表现出多样化的非CAH儿科PAI病因.
- 基因检测对于小儿PAI的精确诊断至关重要.
- 建议为儿科PAI使用特定区域的诊断算法.
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