家族性ACTH非依赖性肾上腺大结节样增生的临床分析

Clinical analysis of familial adrenocorticotropin-independent macronodular adrenal hyperplasia

目的分析家族性ACTH非依赖性肾上腺大结节样增生症(AIMAH)的临床特点。方法回顾性分析一家系3例家族性AIMAH患者的临床和实验室资料,复习相关文献并进行讨论。结果3例患者为同一家系,例1为先证者。3例平均发病年龄为59.3岁,平均病程为6.7年。例1、2皮质醇节律紊乱,ACTH均受抑制,所有ACTH值均<2.2pmol/L。例1小剂量地塞米松抑制试验(LDDST)及大剂量地塞米松抑制试验(HDDST)均不被抑制。例2LDDST不被抑制。例3基础ACTH、皮质醇值及节律均正常,LDDST及HDDST均被抑制。3例患者肾上腺B超均发现双侧多发低回声结节,CT均发现双侧肾上腺大结节样增生。3例垂体MRI检查均未发现异常。结论AIMAH的病因及发病机制尚不清楚,家族性AIMAH患者的存在表明其病因可能与遗传因素有关。家族性AIMAH患者的临床特征与散发性患者相比无明显差别,考虑可能存在更多亚临床型患者。

Objective To analyze the clinical characteristics of familial adrenocorticotropin-independent macronodular adrenal hyperplasia （AIMAH）. Methods The clinical and laboratory data of 3 patients with familial AIMAH were retrospectively analyzed. Results Case 1 was the proband. The mean age of onset of familial AIMAH was 59.3 years, and mean duration of disease was 6.7 years. The plasma ACTH levels of case 1 and case 2 were below 2.2pmol/L, and the secretion rhythm of serum cortisol in them was disorderly. Low or high dose of dexamethasone failed to suppress cortisol secretion in case 1, while only low dose of dexamethasone failed to suppress cortisol secretion in case 2. In case 3, all the plasma cortisol, ACTH level and their secretion rhythm were normal, and either low or high dose of dexamethasone suppressed cortisol secretion successfully. Ultrasound examination revealed multiple hypoechoic nodules in both adrenal glands, and CT scanning showed bilateral macronodular adrenal hyperplasia in all 3 cases. Pituitary MR imaging was normal in all 3 cases. Conclusions The pathogenesis of sporadic and familial AIMAH remains unclear. Familial AIMAH provides an evidence that genetic transmission of the disease may happen. The clinical characteristics of familial AIMAH are similar to those of sporadic AIMAH. It is possible that some subclinical cases among familial AIMAH ascape the diagnosis.