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苏丹幼童的渴感缺失性高钠血症:资源有限环境下的挑战:一例报告。

Adipsic hypernatremia in a young Sudanese child, challenges in a limited-resource setting: a case report.

机构信息

Department of Pediatrics, Prince Sattam Bin Abdulaziz University, Alkharj, Kingdom of Saudi Arabia.

Department of Pediatric Endocrinology, Dr. Gaafar Ibn Auf Children´s Tertiary Hospital, Khartoum, Sudan.

出版信息

Pan Afr Med J. 2021 Jan 26;38:86. doi: 10.11604/pamj.2021.38.86.26236. eCollection 2021.

Abstract

Adipsia is a rare condition characterized by a lack of thirst due to a defect in specific osmoreceptors located in the hypothalamus. The disorder is characterized by failure to maintain the body's normal plasma osmolality (POSM), resulting in chronic or recurrent severe hypernatremia and dehydration. Adipsia is usually accompanied by central diabetes insipidus (DI). Isolated adipsia (without DI) is very rare, with causes ranging from congenital central nervous system malformations to acquired anterior hypothalamic lesions. The diagnosis and management of the condition are considerably challenging for both clinicians and patients/parents, especially in a resource-limited setting. We here in present the first case report of adipsia from Sudan; a young child with isolated adipsia, diagnosed after recurrent severe hypernatemic dehydration episodes. The report portrays the unique challenges in suspecting, diagnosing, and managing the condition in a limited-resource setting.

摘要

渴感缺失症是一种罕见病症,其特征是由于位于下丘脑的特定渗透压感受器缺陷而导致缺乏口渴感。该病症的特征是无法维持身体正常的血浆渗透压(POSM),导致慢性或反复出现严重的高钠血症和脱水。渴感缺失症通常伴有中枢性尿崩症(DI)。单纯性渴感缺失症(无 DI)非常罕见,其病因从先天性中枢神经系统畸形到获得性下丘脑前部病变不等。对于临床医生和患者/家长来说,这种疾病的诊断和管理都极具挑战性,特别是在资源有限的情况下。我们在此报告苏丹首例渴感缺失症病例;一名患有单纯性渴感缺失症的幼儿,在反复出现严重高渗性脱水发作后被诊断出该疾病。该报告描绘了在资源有限的情况下怀疑、诊断和管理该疾病所面临的独特挑战。

相似文献

2
Adipsic hypernatremia syndrome in infancy.婴儿期无渴感高钠血症综合征
J Pediatr Endocrinol Metab. 1997 Sep-Oct;10(5):547-50. doi: 10.1515/jpem.1997.10.5.547.

本文引用的文献

1
A three-year-old boy with hypodipsic hypernatremia syndrome.一名患有低渴感高钠血症综合征的三岁男孩。
Pan Afr Med J. 2018 Aug 6;30:250. doi: 10.11604/pamj.2018.30.250.12263. eCollection 2018.

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