背景:肾上腺髓质增生(AMH)是一种罕见的,与儿茶酚胺过量有关的未完全描述的肾上腺髓质疾病。
目的:通过回顾已报道的AMH病例,提高对AMH的认识。
方法:对所有报告的AMH病例的基因型/表型关系进行系统评价和荟萃分析。
方法:文献综述和分析。
方法:迄今为止发表的所有AMH病例。
方法:AMH病例特征及基因型-表型关系。
结果:66例患者,中位年龄48岁,从29份报告中确定。超过一半是男性(n=39,59%)。大多数人是单方面的(73%,n=48)疾病;71%(n=47)是散发性的,23%(n=15)与MEN2相关。大多数(91%,n=60)显示儿茶酚胺分泌过多的体征和症状,特别是高血压。儿茶酚胺浓度升高(86%,n=57),影像学上的肾上腺异常很常见(80%,n=53)。超过一半(58%,n=38)患有并发肿瘤:嗜铬细胞瘤(42%,n=16/38);甲状腺髓样癌(24%,n=9/38);和肾上腺皮质腺瘤(29%,n=11/38)。大多数(88%,n=58)接受了肾上腺切除术,其中45/58实现了症状缓解。40岁以下患者和双侧疾病患者的肾上腺切除术较少见(均p<0.05)。
结论:AMH可能是偶发性的或与MEN2相关,大多数有儿茶酚胺过量和影像学异常。单方面参与更为常见。大多数报告的患者都接受了肾上腺切除术,通常对儿茶酚胺分泌过多有疗效。
Adrenal medullary hyperplasia (AMH) is a rare, incompletely described disorder of the adrenal medulla that is associated with catecholamine excess.
To increase knowledge about AMH by reviewing the reported cases of this disorder.
Systematic
review and meta-analysis of the genotype/phenotype relationship in all reported cases of AMH.
Literature
review and analysis.
All cases of AMH published to date.
Characteristics of AMH cases and genotype-phenotype relationships.
A total of 66 patients, median age of 48 years, were identified from 29 reports. More than one-half were male (n = 39, 59%). The majority had unilateral (73%, n = 48) disease; 71% (n = 47) were sporadic and 23% (n = 15) were associated with the MEN2. Most (91%, n = 60) displayed signs and symptoms of excess catecholamine secretion, particularly hypertension. Elevated catecholamine concentrations (86%, n = 57) and adrenal abnormalities on imaging were common (80%, n = 53). More than one-half (58%, n = 38) had concurrent tumors: pheochromocytoma (42%, n = 16/38); medullary thyroid cancer (24%, n = 9/38); and adrenocortical adenoma (29%, n = 11/38). Most (88%, n = 58) underwent adrenalectomy with 45/58 achieving symptom resolution. Adrenalectomy was less common in patients under 40 years and those with bilateral disease (both P < .05).
AMH may be sporadic or associated with MEN2, most have catecholamine excess and imaging abnormalities. Unilateral involvement is more common. Most reported patients have been treated with adrenalectomy, which is usually curative with regard to catecholamine hypersecretion.