家族性醛固酮增多症Ⅲ型极其罕见，国内尚无报道。本文报道2例家族性醛固酮增多症Ⅲ型(FH-Ⅲ)病例，患者均在儿童早期出现严重高血压和低钾血症，1例患者的肾上腺明显增大并在20岁时出现库欣综合征的临床表现，双肾上腺切除后患者的症状完全缓解；另1例患者的影像学显示肾上腺正常，用螺内酯治疗后患者的血压和血钾均得到良好控制。这2例患者均存在KCNJ5胚系突变，分别为c．433G>C，p.Glu145Gln和c.452G>A，p.Gly151Glu。 Familial hyperaldosteronism type Ⅲ(FH-Ⅲ) is extremely rare, and there are no reported cases in China. Herein, we reported two cases with FH Ⅲ, both of which presented with severe hypertension and hypokalemia in their early childhood. One patient had significantly enlarged adrenal glands and developed clinical manifestations of Cushing′s syndrome at the age of 20. Complete relief of symptoms was achieved after bilateral adrenalectomy. The other case had normal adrenal imaging, and with spironolactone treatment, blood pressure and potassium levels were well-controlled. Both cases had germline mutation of KCNJ5 gene which were c. 433G>C(p.Glu145Gln) and c. 452G>A(p.Gly151Glu), respectively.
Abstract
Familial hyperaldosteronism type Ⅲ(FH-Ⅲ) is extremely rare, and there are no reported cases in China. Herein, we reported two cases with FH Ⅲ, both of which presented with severe hypertension and hypokalemia in their early childhood. One patient had significantly enlarged adrenal glands and developed clinical manifestations of Cushing′s syndrome at the age of 20. Complete relief of symptoms was achieved after bilateral adrenalectomy. The other case had normal adrenal imaging, and with spironolactone treatment, blood pressure and potassium levels were well-controlled. Both cases had germline mutation of KCNJ5 gene which were c. 433G>C(p.Glu145Gln) and c. 452G>A(p.Gly151Glu), respectively.
关键词
家族性醛固酮增多症Ⅲ型/KCNJ5基因突变/临床特征
Key words
Familial hyperaldosteronism type Ⅲ/KCNJ5 germline mutation/clinical features
万方数据