原性糖尿病无味症:三十年的临床现实
Mariana Gouveia Lopes1, Daniela T Peixoto2, Catarina Neves3
1Pediatrics, Unidade Local de Saúde da Região de Leiria, Leiria, PRT.
Cureus
|September 9, 2025
概括
在儿童中,原性无味糖尿病 (NDI) 损害了生长和神经发育. 使用利尿剂和NSAIDs的早期治疗可以使水平正常化,但多尿症仍然存在,突出显示需要持续护理.
科学领域:
- 儿科脏病学 儿科脏病学
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
背景情况:
- 原性糖尿病无味症 (NDI) 是一种罕见的脏疾病,其特征是对抗尿激素 (ADH) 的抵抗,导致过度排尿 (多尿症) 和口渴 (多尿症).
- NDI可以是遗传的,通常是由于AVPR2基因突变而与X结合的,或是获得的,显著影响婴儿和儿童发育.
- 了解儿科NDI的临床范围,管理和长期结果对于改善患者护理至关重要.
研究的目的:
- 描述患有NDI的儿科患者的临床表现,诊断方法和治疗策略.
- 评估NDI儿童的长期结果,包括生长,神经发育和功能.
- 确定影响NDI在三级儿科脏病学环境中的管理和预后的关键因素.
主要方法:
- 在1991年至2024年间被诊断患有NDI的儿科患者进行了一项回顾性观察研究.
- 收集的数据包括临床表现,诊断工作 (包括基因测试和德斯摩素反应),管理策略 (药物,剂量) 和后续评估.
- 分析重点是诊断时的临床特征,治疗疗效和与生长,神经发育和功能相关的长期结果.
主要成果:
- 确定了8名患有NDI的儿科患者 (7名男性),他们呈现出严重的多尿症,多滴水症和发育不良,通常在婴儿期被诊断出来 (平均年龄为7.5个月).
- 诊断得到了高血清水平 (中位数为160.5mmol/L) 和低尿/血度比 (中位数为0.41) 的支持;基因测试在所有测试患者中发现了AVPR2变异.
- 在所有患者中,用甲酸和阿米洛里德治疗使血清度正常化;在62.5%的患者中,添加了印米他辛. 尽管增长有所改善,但多尿症和多滴水症仍然存在,75%的人患上神经发育障碍.
结论:
- NDI显著影响儿科生长和神经发育,需要在婴儿中早期识别发育不良,多尿症和多滴水症.
- 虽然利尿剂和NSAID治疗可以稳定血清,但持续的多尿和潜在的神经发育后续强调了NDI的慢性性质.
- 在专门的儿科脏病中心进行长期随访对于管理NDI和解决其对受影响儿童的多方面的影响至关重要.
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