University of Trieste, Piazzale Europa, 1, 34127, Trieste, Italy.
Forensic & Neurodevelopmental Sciences, King's College London, London, England, UK.
Ital J Pediatr. 2019 Feb 6;45(1):23. doi: 10.1186/s13052-019-0614-1.
Primary adrenal insufficiency (PAI) in children is an uncommon but severe condition which can be either inherited or acquired. It consists in clinical manifestation of defective production or ineffective action of endogenous glucocorticoids; deficiency in mineralocorticoids and adrenal androgens may coexist. Diagnosis of PAI in children and young people can be challenging; while adrenal crisis (acute decompensation) is a life-threatening condition, with patient presenting with characteristic features of hypoglycemia, hypotension, collapse and coma, chronic adrenal insufficiency may present with vague and non-specific symptoms, making the diagnosis more difficult. Gastroenteritis and Syndrome of Inappropriate Secretion of Antidiuretic hormone (SIADH) are the most frequent reported misdiagnosis in patients with adrenal insufficiency (AI). While intravenous fluid replacement in the suspect of a gastroenteritis would be beneficial, a SIADH misdiagnosis can be harmful since the treatment of this condition is based primarily on fluid restriction.
We report the case of a child admitted to the emergency department whose condition was ultimately diagnosed as autoimmune adrenal insufficiency after few hours of inappropriate fluid restriction following a SIADH misdiagnosis.
AI is a rare condition in children and the diagnosis can be challenging. A missed diagnosis of AI or an inadequate treatment may cause severe complications, especially if a SIADH is erroneously diagnosed. Emergency physicians and pediatricians should be familiar with this diagnosis to enhance early recognition of this potentially life-threatening condition.
儿童原发性肾上腺功能不全(PAI)是一种罕见但严重的疾病,可由遗传或获得性因素引起。其特征为内源性糖皮质激素产生或作用缺陷;同时存在盐皮质激素和肾上腺雄激素缺乏。儿童和青少年 PAI 的诊断具有挑战性;尽管肾上腺危象(急性失代偿)是一种危及生命的疾病,患者表现为低血糖、低血压、虚脱和昏迷等特征,但慢性肾上腺功能不全可能表现出模糊且非特异性的症状,使诊断更加困难。在肾上腺功能不全(AI)患者中,最常报告的误诊是肠胃炎和抗利尿激素不适当分泌综合征(SIADH)。虽然怀疑肠胃炎时静脉补液有益,但如果误诊为 SIADH,可能会造成伤害,因为这种情况的治疗主要基于限制液体摄入。
我们报告了一例儿童病例,该儿童在因 SIADH 误诊而接受数小时不适当的液体限制后,最终被诊断为自身免疫性肾上腺功能不全。
AI 在儿童中较为罕见,诊断具有挑战性。AI 的漏诊或治疗不当可能导致严重并发症,尤其是误诊为 SIADH 时。急诊医生和儿科医生应该熟悉这种诊断,以提高对这种潜在危及生命的疾病的早期识别。