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目的:研究家族性ACTH-非依赖性双侧肾上腺大结节增生(AIMAH)的临床表型及遗传学特征。方法:以4例AIMAH患者为先证进行家族调查。4个家族直系成员74人中,接受筛查者44人,发现AIMAH患者15例(含先证者),除家族1有3例外,余3个家族均有4例。男4例,女11例,平均年龄53岁。绘制系谱图,并对其临床和遗传学特点进行分析。结果:15例家族性AIMAH患者中,典型库欣综合征3例,12例(80%)表现为高血压和(或)糖尿病等亚临床库欣症状。4个家系中有连续2代以上垂直传递发病,符合常染色体显性遗传模式。结论:AIMAH有家族性倾向,并呈现常染色体显性遗传特点,遗传因素可能为其重要致病原因。因筛查早期发现之故,临床表型以亚临床库欣综合征为特点。
Objective: To investigate the clinical phenotype and genetic characteristics of familial ACTH-independent bilateral adrenal macro nodule hyperplasia (AIMAH). Methods: A total of 4 AIMAH patients were investigated for family history. Among the 74 members of 4 family members, 44 were screened and 15 were found in AIMAH (including proband). Except for 3 in family 1, there were 4 in 3 families. 4 males and 11 females, average age 53 years old. Pedigree mapping, and its clinical and genetic characteristics of the analysis. RESULTS: Of the 15 familial AIMAH patients, 3 were Cushing’s syndrome, and 12 (80%) showed subclinical Cushing’s syndrome as hypertension and / or diabetes. Four families in two consecutive generations of vertical transmission of disease, consistent with autosomal dominant inheritance pattern. Conclusion: AIMAH has a familial tendency and shows autosomal dominant genetic features. Genetic factors may be the important causative factors. Because of the early detection of screening, the clinical phenotype is characterized by subclinical Cushing’s syndrome.