PDF(Pubmed)
Abstract：
Primary adrenal insufficiency (PAI) is a rare disease and potentially fatal if unrecognized. It is characterized by destruction of the adrenal cortex, most frequently of autoimmune origin, resulting in glucocorticoid, mineralocorticoid, and adrenal androgen deficiencies. Initial signs and symptoms can be nonspecific, contributing to late diagnosis. Loss of zona glomerulosa function may precede zona fasciculata and reticularis deficiencies. Patients present with hallmark manifestations including fatigue, weight loss, abdominal pain, melanoderma, hypotension, salt craving, hyponatremia, hyperkalemia, or acute adrenal crisis. Diagnosis is established by unequivocally low morning serum cortisol/aldosterone and elevated ACTH and renin concentrations. A standard dose (250 µg) Cosyntropin stimulation test may be needed to confirm adrenal insufficiency (AI) in partial deficiencies. Glucocorticoid and mineralocorticoid substitution is the hallmark of treatment, alongside patient education regarding dose adjustments in periods of stress and prevention of acute adrenal crisis. Recent studies identified partial residual adrenocortical function in patients with AI and rare cases have recuperated normal hormonal function. Modulating therapies using rituximab or ACTH injections are in early stages of investigation hoping it could maintain glucocorticoid residual function and delay complete destruction of adrenal cortex.
摘要：
原发性肾上腺功能不全（PAI）是一种罕见的疾病，如果无法识别，可能会致命。它的特点是破坏肾上腺皮质，最常见的是自身免疫起源，导致糖皮质激素，盐皮质激素，和肾上腺雄激素缺乏。最初的体征和症状可以是非特异性的，有助于晚期诊断。肾小球带功能的丧失可能先于束状带和网状带缺乏。患者表现出包括疲劳在内的标志性表现，减肥,腹痛,黑斑病,低血压,盐的渴望，低钠血症,高钾血症,或急性肾上腺危象.通过明确的早晨血清皮质醇/醛固酮低以及ACTH和肾素浓度升高来确定诊断。可能需要标准剂量（250µg）Cosyntropin刺激测试以确认部分缺乏的肾上腺功能不全（AI）。糖皮质激素和盐皮质激素替代是治疗的标志，同时对患者进行有关压力期剂量调整和预防急性肾上腺危象的教育。最近的研究确定了AI患者的部分残留肾上腺皮质功能，并且罕见病例恢复了正常的激素功能。使用利妥昔单抗或ACTH注射的调节疗法处于研究的早期阶段，希望它可以维持糖皮质激素残留功能并延迟肾上腺皮质的完全破坏。
