Division of Nephrology, Department of Internal Medicine, National Taiwan University Hospital, Taipei City, Taiwan.
Department of Internal Medicine, National Taiwan University Hospital, Taipei City, Taiwan.
J Clin Endocrinol Metab. 2019 Nov 1;104(11):5462-5466. doi: 10.1210/jc.2019-00689.
Familial hyperaldosteronism type I (FH-I) or glucocorticoid-remediable aldosteronism (GRA) is caused by unequal crossing over of the steroid 11β-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) genes. Somatic KCNJ5 mutations have not been reported in patients with GRA; therefore, the appropriate treatment and prognosis of such concurrent cases remain unknown.
Two siblings of a Taiwanese family with GRA were found to have adrenal adenomas and somatic KCNJ5 mutations. Complete clinical cure was achieved after unilateral adrenalectomy. Furthermore, the conversion site of the chimeric gene was identified by direct sequencing.
We report the coexistence of a somatic KCNJ5 mutation and GRA. Patients with GRA whose blood pressure management develops resistance to glucocorticoid treatment could therefore benefit from a lateralization test. The promising outcomes after unilateral adrenalectomy presented in this report offer new perspectives for further research into various PA subtypes.
家族性醛固酮增多症 I 型（FH-I）或糖皮质激素可治愈性醛固酮增多症（GRA）是由甾体 11β-羟化酶（CYP11B1）和醛固酮合酶（CYP11B2）基因不等交换引起的。在 GRA 患者中尚未报道体细胞 KCNJ5 突变；因此，对于这种并发病例的适当治疗和预后仍然未知。
一对来自中国台湾的 GRA 同胞兄弟姐妹被发现患有肾上腺腺瘤和体细胞 KCNJ5 突变。单侧肾上腺切除术实现了完全临床治愈。此外，还通过直接测序确定了嵌合基因的转换位点。
我们报告了体细胞 KCNJ5 突变与 GRA 的共存。对于那些对糖皮质激素治疗的血压管理产生抗药性的 GRA 患者，因此可以受益于侧化试验。本报告单侧肾上腺切除术带来的有希望的结果为进一步研究各种 PA 亚型提供了新的视角。
