一个罕见的先天性疼痛不敏感的病例与无水
Vaishnavi Sreenivasan1, Pediredla Karunakar1, Sravani Madhileti1
1Department of Paediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
Paediatrics and international child health
|April 25, 2024
概括
带有无水症的先天性疼痛不敏感症 (CIPA) 是一种罕见的遗传性疾病. 一个导致CIPA的新型NTRK1基因变异在一个疼痛和温度感觉受损的年轻女孩身上被发现.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 儿科 儿科 儿科
背景情况:
- 带有无水症的先天性疼痛不敏感性 (CIPA) 是一种罕见的自带递归性疾病.
- 它的特点是无法感受到疼痛和缺乏出汗 (无水).
- 差异性诊断包括遗传性感官和自主神经病变 (HSAN) 和莱什-尼汉综合征.
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