Yu Liping, Zhang Junqing, Guo Xiaohui, Chen Xiaoyu, He Zhisong, He Qun
Deparment of Endocrinology and Metabolism, Peking University First Hospital, Xicheng District, Beijing, China.
Department of Urology, Peking University First Hospital, Xicheng District, Beijing, China.
PLoS One. 2018 Jan 25;13(1):e0191602. doi: 10.1371/journal.pone.0191602. eCollection 2018.
To investigate Armadillo repeat-containing 5 (ARMC5) mutations in Chinese patients with familial and sporadic primary bilateral macronodular adrenal hyperplasia (PBMAH), we performed clinical data collection and ARMC5 sequencing for three PBMAH families and 23 sporadic PBMAH patients. ARMC5 pathogenic germline mutations were identified in all 3 PBMAH families. Secondary ARMC5 somatic mutations were found in two adrenal nodules from two PBMAH family members with ARMC5 germline mutations. PBMAH family members with ARMC5 pathogenic germline mutations displayed various clinical manifestations. ARMC5 pathogenic germline mutations were identified in 5 sporadic PBMAH patients among whom one patient displayed both hypercortisolism and primary aldosteronism. We detected a total of 10 ARMC5 pathogenic mutations, of which 8 had not been previously reported. Our results suggest that ARMC5 pathogenic germline mutations are common in familial and sporadic Chinese PBMAH patients, and demonstrate the importance of ARMC5 screening in PBMAH family members to detect patients with insidious PBMAH.
为了研究中国家族性和散发性原发性双侧大结节性肾上腺增生（PBMAH）患者中含犰狳重复序列5（ARMC5）的突变情况，我们对3个PBMAH家系和23例散发性PBMAH患者进行了临床数据收集和ARMC5测序。在所有3个PBMAH家系中均鉴定出ARMC5致病种系突变。在两名携带ARMC5种系突变的PBMAH家庭成员的两个肾上腺结节中发现了继发性ARMC5体细胞突变。携带ARMC5致病种系突变的PBMAH家庭成员表现出各种临床表现。在5例散发性PBMAH患者中鉴定出ARMC5致病种系突变，其中1例患者同时表现为皮质醇增多症和原发性醛固酮增多症。我们共检测到10个ARMC5致病突变，其中8个此前未曾报道。我们的结果表明，ARMC5致病种系突变在家族性和散发性中国PBMAH患者中很常见，并证明了对PBMAH家庭成员进行ARMC5筛查以检测隐匿性PBMAH患者的重要性。
