Moudgil A, Rodich G, Jordan S C, Kamil E S
Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles, CA, USA.
Pediatr Nephrol. 2000 Nov;15(1-2):60-2. doi: 10.1007/s004670000377.
Apparent mineralocorticoid excess (AME) syndrome is a rare inherited disorder caused by 11beta-hydroxysteroid dehydrogenase (11-HSD 2) isozyme deficiency in the kidney. This enzyme is responsible for oxidizing cortisol to its inactive metabolite cortisone. An elevated tetrahydrocortisol (THF) and allotetrahydrocortisol (aTHF) to tetrahydrocortisone (THE) ratio in the urine is pathognomonic of AME syndrome. Clinical features include hypertension, hypokalemia, alkalosis, reduced plasma renin activity (PRA), low aldosterone levels, and occasionally nephrocalcinosis. Here we describe a 13-year-old boy who presented with severe hypertension, hypokalemia, low PRA and aldosterone levels, and elevated THF plus aTHF/THE ratio in the urine consistent with a diagnosis of AME syndrome. On ultrasound examination, he had severe nephrocalcinosis, and bilateral renal cysts. Renal cysts have not been previously reported in AME syndrome. The development of nephrocalcinosis and renal cysts may be associated with chronic long-standing hypokalemia. An early diagnosis and treatment of AME syndrome could help to prevent these sequelae, and to preserve renal function.
表观盐皮质激素过多（AME）综合征是一种罕见的遗传性疾病，由肾脏中11β-羟类固醇脱氢酶（11-HSD 2）同工酶缺乏引起。该酶负责将皮质醇氧化为其无活性代谢产物可的松。尿中四氢皮质醇（THF）和别四氢皮质醇（aTHF）与四氢可的松（THE）的比值升高是AME综合征的特征性表现。临床特征包括高血压、低钾血症、碱中毒、血浆肾素活性（PRA）降低、醛固酮水平低下，偶尔还会出现肾钙质沉着症。在此，我们描述一名13岁男孩，他表现为严重高血压、低钾血症、低PRA和醛固酮水平，以及尿中THF加aTHF/THE比值升高，符合AME综合征的诊断。超声检查显示，他患有严重的肾钙质沉着症和双侧肾囊肿。肾囊肿在AME综合征中此前尚未有报道。肾钙质沉着症和肾囊肿的发生可能与长期慢性低钾血症有关。AME综合征的早期诊断和治疗有助于预防这些后遗症，并保护肾功能。
