PS-BPB06-9: PREVALENCE OF KCNJ5 MUTANT ALDOSTERONE-PRODUCING ADENOMAS AMONG MALAYSIAN PATIENTS WITH PRIMARY ALDOSTERONISM
PS-BPB06-9: PREVALENCE OF KCNJ5 MUTANT ALDOSTERONE-PRODUCING ADENOMAS AMONG MALAYSIAN PATIENTS WITH PRIMARY ALDOSTERONISM
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PS-BPB06-9：马来西亚原发性醛固酮增多症患者中 KCNJ5 突变型醛固酮腺瘤的患病率
DOI：
10.1097/01.hjh.0000915604.94784.48
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发表时间：
2023
影响因子：
4.9
通讯作者：
Rizam N
中科院分区：
文献类型：
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作者：
Rizam N
目的：验证马来西亚三级中心原发性醛固酮增多症 (PA) 患者中 KCNJ5 突变型醛固酮腺瘤 (APA) 的患病率设计和方法：本研究纳入了 2010 年至 2020 年在马来西亚布城医院进行的肾上腺切除术中总共 80 个肾上腺样本。在收到的肾上腺块中，通过 CYP11B2 免疫组织化学 (IHC) 染色鉴定的 74 个 APA 的 DNA 样本被送去进行 KCNJ5 突变分析。比较基因型之间的性别、种族和肾上腺切除时的年龄。使用Fisher Exact检验对数据进行统计分析。结果：74个APA中的28个（37.8%）具有KCNJ5突变。最常见的 KCNJ5 变体是 G151R (50%)，其次是 L168R (39.3%) 和 T158A (10.7%)。在所有突变 APA 中，19/28 (67.9%) 来自女性 PA 患者，而对照组中 26/46 (56.5%) 是女性。未发现 KCNJ5 突变状态与性别之间存在显着关联。大多数突变 APA 来自马来 PA 患者 (n = 17)，其次是华人 PA 患者 (n = 11)，这符合整个队列的人口统计学特征。因此，未发现种族与 KCNJ5 突变状态显着相关。在该队列中，KCNJ5 突变状态导致的肾上腺切除术年龄没有显着差异。肾上腺切除术最常在 37-46 岁之间进行 (n= 30)，其次是 47-56 (n= 16)、26-35 (n= 12)、57-66 (n= 11) 和 67-76 (n= 2)；在 3 名患者中，这一信息尚不清楚。 结论：与马来西亚国立大学医学中心 2000 年至 2015 年间进行的一项研究发现，KCNJ5 突变 APA 的患病率相似，证实马来西亚 PA 患者中 KCNJ5 突变 APA 的患病率 (37.8%) 低于其他东方队列中观察到的患病率 (高达 70%)。虽然大多数突变 APA 来自女性 PA 患者 (67.9%)，但根据 KCNJ5 突变状态，没有发现性别偏见，因为该队列中的大多数 PA 患者是女性 (60.8%)。
Objective:To verify the prevalence of KCNJ5 mutant aldosterone-producing adenomas (APAs) among primary aldosteronism (PA) patients from a tertiary center in MalaysiaDesign and method:A total of 80 adrenal samples from adrenalectomies performed between 2010 up to 2020 at Hospital Putrajaya, Malaysia were included in this study. Of the adrenals blocks received, DNA samples from 74 APAs identified by CYP11B2 immunohistochemistry (IHC) staining were sent for KCNJ5 mutation analysis. Gender, ethnicity and age at adrenalectomy were compared between genotypes. Data were statistical analyzed using the Fisher Exact test.Results:28 of the 74 (37.8%) APAs had a KCNJ5 mutation. The most common KCNJ5 variant was G151R (50%), followed by L168R (39.3%) and T158A (10.7%). Of all the mutant APAs, 19/28 (67.9%) were from female PA patients whereas among controls 26/46 (56.5%) were females. No significant association between KCNJ5 mutation status and gender were found. The majority of mutant APAs were from Malay PA patients (n= 17), followed by Chinese PA patients (n= 11) which follows the whole cohort demography. Thus, ethnicity was not found to be significantly associated with KCNJ5 mutation status. In this cohort, no significant differences in age at of adrenalectomy by KCNJ5 mutation status was seen. Adrenalectomy procedure was performed most frequent between the age of 37–46 years old (n= 30), followed by 47–56 (n= 16), 26–35 (n= 12), 57–66 (n= 11) and 67–76 (n= 2); in 3 patients this information was not known.Conclusions:A similar prevalence of KCNJ5 mutant APAs as found in a previous study performed at the National University of Malaysia Medical Centre between 2000 and 2015 verifies the lower prevalence of KCNJ5 mutant APAs in Malaysian PA patients (37.8%) compared to that observed in other Oriental cohorts (up to 70%). Although, the majority of mutant APAs were from female PA patients (67.9%), no gender bias according to KCNJ5 mutation status was found as the majority of PA patients in this cohort were females (60.8%).