Park Julie, Didi Mohammed, Blair Joanne
Department of Endocrinology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK.
Arch Dis Child. 2016 Sep;101(9):860-5. doi: 10.1136/archdischild-2015-308799. Epub 2016 Apr 15.
The diagnosis and treatment of adrenal insufficiency in childhood and adolescence poses a number of challenges. Clinical features of chronic adrenal insufficiency are vague and non-specific, and mimic many other causes of chronic ill health. A range of diagnostic tests are available for the assessment of adrenal function, all of which have advantages and disadvantages. Cortisol responses to these tests may vary with age and between genders. Knowledge of normal cortisol levels during health and ill health in childhood is also limited, and the cortisol replacement therapies available in clinical practice enable only crude mimicry of physiological patterns of cortisol secretion. An awareness of the limitations of diagnostic tests and treatments is important, and critical clinical assessment, integrating clinical and biochemical data, is essential for the diagnosis and treatment of children with suspected adrenal insufficiency. The aim of this review is to draw on data from clinical studies to inform a pragmatic approach to the child presenting with symptoms of chronic adrenal insufficiency. Clinical features of primary and secondary adrenal insufficiency, and syndromes associated with these diagnoses are described. Factors to consider when selecting a diagnostic test of adrenal function and interpretation of test results are considered. Finally, the limitations of cortisol replacement therapy are also discussed.
儿童和青少年肾上腺功能不全的诊断与治疗存在诸多挑战。慢性肾上腺功能不全的临床特征模糊且不具特异性，与许多其他导致慢性健康问题的病因相似。有一系列诊断测试可用于评估肾上腺功能，所有这些测试都各有优缺点。皮质醇对这些测试的反应可能因年龄和性别而异。儿童健康和患病期间正常皮质醇水平的相关知识也有限，临床实践中可用的皮质醇替代疗法只能粗略模拟皮质醇分泌的生理模式。认识到诊断测试和治疗的局限性很重要，综合临床和生化数据进行关键的临床评估对于疑似肾上腺功能不全儿童的诊断和治疗至关重要。本综述的目的是借鉴临床研究数据，为出现慢性肾上腺功能不全症状的儿童提供一种实用的处理方法。描述了原发性和继发性肾上腺功能不全的临床特征以及与这些诊断相关的综合征。考虑了选择肾上腺功能诊断测试时需考虑的因素以及测试结果的解读。最后，还讨论了皮质醇替代疗法的局限性。
