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一名具有多种先天性异常的完全独立非精神科患者的复发性无渴性高钠血症:病例报告

Recurrent Adipsic Hypernatremia in a Fully Independent Non-psychiatric Patient With Multiple Congenital Anomalies: A Case Report.

作者信息

Alanazi Rakan B, Alhamadh Moustafa S, Alqarni Sultan T, Alanazi Khaled H, Alheijani Basel

机构信息

Medicine, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, SAU.

Surgery, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, SAU.

出版信息

Cureus. 2022 Apr 8;14(4):e23942. doi: 10.7759/cureus.23942. eCollection 2022 Apr.

Abstract

Osmoregulation is a fundamental process of homeostasis that maintains metabolic and biochemical reactions, thermoregulation, and fluid-electrolytes balance. Fluid-electrolytes imbalance leads to various clinical manifestations ranging from mild weakness to severe neurological dysfunction. Adipsic hypernatremia is an exceedingly rare life-threatening condition characterized by defective osmoregulatory mechanisms. It is more often reported in patients with severe untreated psychiatric disorders for unknown etiologies, but it may result from congenital or acquired hypothalamic lesions in the form of stroke, neoplastic infiltration, trauma, or infection. Herein we report an unusual case of isolated hypernatremia in a fully independent non-psychiatric 27-year-old diabetic male with spina bifida, repaired cleft palate, and mild caudal regression syndrome.

摘要

渗透调节是内环境稳态的一个基本过程,它维持代谢和生化反应、体温调节以及体液电解质平衡。体液电解质失衡会导致从轻度虚弱到严重神经功能障碍等各种临床表现。失水性高钠血症是一种极其罕见的危及生命的疾病,其特征为渗透调节机制存在缺陷。它更常见于病因不明的严重未治疗精神疾病患者,但也可能由中风、肿瘤浸润、创伤或感染等先天性或后天性下丘脑病变引起。在此,我们报告一例不同寻常的孤立性高钠血症病例,患者为一名27岁完全独立的非精神疾病男性糖尿病患者,患有脊柱裂、腭裂修复术后以及轻度尾椎退化综合征。

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