NP-59 Adrenal Scintigraphy as an Imaging Biomarker to Predict KCNJ5 Mutation in Primary Aldosteronism Patients

Frontiers in Endocrinology

Ruoh-Fang Yen¹  Wan-Yu Lin²  Kang-Yung Peng³  Kwan-Dun Wu³  Jeff S. Chueh⁴  Jei-Yie Huang⁵  Ching-Chu Lu⁵ 

[1] Department of Nuclear Medicine, National Taiwan University Hospital, Taipei, Taiwan;Department of Public Health, College of Public Health, National Taiwan University, Taipei, Taiwan;Division of Nephrology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan;Glickman Urological and Kidney Institute, Cleveland Clinic Lerner College of Medicine, Cleveland Clinic, Cleveland, OH, United States;Institute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei, Taiwan;

关键词: primary aldosteronism;    NP-59 adrenal scintigraphy;    KCNJ5;    semiquantification;    mutation prediction;   

DOI  :  10.3389/fendo.2021.644927

来源: DOAJ

【 摘 要 】

PurposeSomatic KCNJ5 mutation occurs in half of unilateral primary aldosteronism (PA) and is associated with more severe phenotype. Mutation status can only be identified by tissue sample from adrenalectomy. NP-59 adrenal scintigraphy is a noninvasive functional study for disease activity assessment. This study aimed to evaluate the predictive value of NP-59 adrenal scintigraphy in somatic KCNJ5 mutation among PA patients who received adrenalectomy.MethodsSixty-two PA patients who had NP-59 adrenal scintigraphy before adrenalectomy with available KCNJ5 mutation status were included. Two semiquantitative parameters, adrenal to liver ratio (ALR) and lesion to contralateral ratio of bilateral adrenal glands (CON) derived from NP-59 adrenal scintigraphy, of mutated and wild-type patients were compared. Cutoff values calculated by receiver-operating characteristic (ROC) analysis were used as a predictor of KCNJ5 mutation.ResultsTwenty patients had KCNJ5 mutation and 42 patients were wild type. Patients harboring KCNJ5 mutation had both higher ALR and CON (p = 0.0031 and 0.0833, respectively) than wild-type patients. With ALR and CON cutoff of 2.10 and 1.95, the sensitivity and specificity to predict KCNJ5 mutation were 85%, 57% and 45%, 93%, respectively. Among 20 patients with KCNJ5 mutation, 16 showed G151R point mutation (KCNJ5- G151R) and 4 showed L168R point mutation (KCNJ5-L168R), which former one had significantly lower ALR (p=0.0471).ConclusionPA patients harboring somatic KCNJ5 mutation had significantly higher NP-59 uptake regarding to ALR and CON than those without mutation. APAs with KCNJ5-L168R point mutation showed significantly higher ALR than those with KCNJ5-G151R point mutation.

【 授权许可】

Unknown