考试14个患者的基因型和表型关系的明显的盐皮质激素过剩。
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威尔逊RC Dave-Sharma年代,哈比森博士Newfield R,阿扎尔先生,Krozowski z,资助者JW,沙克尔顿CH, Bradlow霍奇金淋巴瘤,金桥,Hertecant J,莫兰,Neiberger再保险公司Balfe JW,法塔赫,Daneman D, Akkurt嗨,德桑蒂斯C,新的MI
考试14个患者的基因型和表型关系的明显的盐皮质激素过剩。
中国性金属底座。1998年7月,83 (7):2244 - 54。
- PubMed ID
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9661590 (在PubMed]
- 文摘
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明显的盐皮质激素过剩(AME)是一种遗传性疾病导致前和产后增长失败,青少年高血压、hypokalemic代谢性碱中毒,和hyporeninemic hypoaldosteronism由于缺乏11 beta-hydroxysteroid脱氢酶2型酶活性(11βHSD2)。11βHSD2酶负责转换皮质醇的活性代谢物可的松,因此保护皮质醇中毒的盐皮质激素受体。几个纯合突变与这种可能致命的疾病相关联。我们已经检查了表型、生化特性和基因型患者14 AME。所有的患者特征11βHSD2严重缺陷的迹象。出生体重明显低于他们的兄弟姐妹的影响。患者短,体重过轻,高血压年龄。变量的一个或多个器官的损害(肾脏、视网膜、心脏和中枢神经系统)被发现在所有的病人,只有一个除外。终末器官损伤的后续研究显示在6到13年的治疗后病人在所有患者明显改善。演示的尿代谢物的皮质醇异常率与优势的皮质醇代谢物,即tetrahydrocortisol + 5 alpha-tetrahydrocortisol /四氢可的松-33年是6.7,而正常的比率是1.0。 Infusion of [11-3H]cortisol resulted in little release of tritiated water, indicating the failure of the conversion of cortisol to cortisone. Thirteen mutations in the HSD11B2 gene have been previously published, and we report three new genetic mutations in two patients, one of whom was previously unreported. All of the patients had homozygous defects except one, who was a compound heterozygote. Our first case had one of the most severe mutations, resulting in the truncation of the enzyme 11 beta HSD2, and died at the age of 16 yr while receiving treatment. Three patients with identical homozygous mutations from different families had varying degrees of severity of clinical and biochemical features. Due to the small number of patients with identical mutations, it is difficult to correlate genotype with phenotype. In some cases, early and vigilant treatment of AME patients may prevent or improve the morbidity and mortality of end-organ damage such as renal or cardiovascular damage and retinopathy. The outcome of treatment in more patients may establish the efficacy of treatment.