Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase.
Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase.
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盐消耗性先天性肾上腺增生症中肾上腺 21-羟化酶完全缺失的醛固酮合成。
DOI：
10.1056/nejm199101173240302
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发表时间：
1991
期刊：
影响因子：
--
通讯作者：
New,MI
中科院分区：
文献类型：
--
作者：
Speiser,PW;Agdere,L;Ueshiba,H;White,PC;New,MI
背景21-羟基酶缺乏所致的先天性肾上腺增生症是由肾上腺21-羟基酶P-450c21基因突变引起的皮质醇和醛固酮生物合成障碍。它会导致新生儿严重的盐分浪费，需要长期使用糖皮质激素和盐皮质激素治疗。我们描述了一名停止治疗的19岁女性患者的部分自发康复。方法我们纵向检测了患者和其他四名在婴儿时期被诊断为肾上腺增生症且DNA分析预测完全缺乏功能性P-450c21的患者的血浆和尿液肾上腺激素水平、血浆肾素活性和钠平衡。血浆肾素活性与尿醛固酮的比值被用来衡量肾上腺球状带的反应。两名患者接受了静脉滴注孕酮，以测量肾上腺外21-羟基化的醛固酮前体的产生。结果停药的患者在低钠饮食的同时，排泄了正常量的醛固酮(每平方米体表面积每天20.0nmoL)。她的血浆肾素活性与尿醛固酮-18-葡萄糖醛酸排泄量的比值在限钠3天后为1.7，而在9岁时为4.7(正常范围为0.03~0.1)。肾上腺外黄体酮转化为脱氧皮质酮的比例较低。另外4名患者在新生儿期后对钠限制有不同的反应(血浆肾素活性范围：尿醛固酮-18-葡萄糖醛酸苷，1.9至19.4)。结论尽管缺盐21-羟基酶缺乏症患者的CYP21基因具有相同的功能突变，但随着时间的推移，他们产生盐皮质激素的能力可能会彼此不同。这种变异可能归因于另一种具有21-羟基酶活性的肾上腺酶。(N Engl J Med 1991；324：145-9)
BackgroundCongenital adrenal hyperplasia due to 21-hydroxylase deficiency is a disorder of cortisol and aldosterone biosynthesis that results from mutations in the CYP21 gene encoding the adrenal 21-hydroxylase P-450c21. It can cause severe salt wasting in newborns that requires long-term treatment with glucocorticoids and mineralocorticoids. We describe a spontaneous partial recovery from this disorder in a 19-year-old woman who had discontinued treatment.MethodsWe measured plasma and urinary levels of adrenal hormones, plasma renin activity, and sodium balance longitudinally in the patient and four other patients in whom adrenal hyperplasia had been diagnosed in infancy and in whom DNA analysis had predicted a complete absence of functional P-450c21. The ratio of plasma renin activity to urinary aldosterone was used as a measure of the response of the adrenal zona glomerulosa. Two patients underwent intravenous infusion of [3H]progesterone for the measurement of extraadrenal production of 21-hydroxylated precursors of aldosterone.ResultsThe patient who had discontinued her medication excreted a normal amount of aldosterone (20.0 nmol per square meter of body-surface area per day) while following a diet low in sodium. Her ratio of plasma renin activity to urinary aldosterone-18-glucuronide excretion was 1.7 after three days of sodium restriction, as compared with a ratio of 4.7 at the age of nine years (normal range, 0.03 to 0.1). The percentage of extraadrenal conversion of progesterone to deoxycorticosterone was low. The four other patients had variable responses to sodium restriction after the neonatal period (range for plasma renin activity:urinary aldosterone-18-glucuronide, 1.9 to 19.4).ConclusionsAlthough patients with salt-wasting 21-hydroxylase deficiency have functionally equivalent mutations in their CYP21 genes, they may vary from one another and over time in their ability to produce mineralocorticoids. This variation may be attributable to another adrenal enzyme with 21-hydroxylase activity. (N Engl J Med 1991; 324:145–9.)
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