Liddle syndrome in a newborn infant
Liddle syndrome in a newborn infant
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DOI：
10.1007/s00467-002-0897-z
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发表时间：
2002-08-01
影响因子：
3
通讯作者：
Patel, S
中科院分区：
文献类型：
--
作者：
Assadi, FK;Kimura, RE;Patel, S
一名10周大的女婴出现高血压。血压升高与代谢性碱中毒和尿氯浪费有关。家族史并无异常。她的尿液分析、血尿素氮（BUN）和血清肌酐浓度均正常。肾脏超声检查正常。使用卡托普利进行的 Technetium-99m 二亚乙基三氨基五乙酸 (DTPA) 肾脏扫描显示双侧血流正常。头部超声和超声心动图正常。血液肾上腺素、去甲肾上腺素、儿茶酚胺、甲状腺素和类固醇水平也正常。使用拉贝洛尔、肼屈嗪、卡托普利、甲基多巴、硝苯地平和螺内酯的各种高剂量组合治疗未能控制血压升高。血清醛固酮水平和外周血浆肾素活性低。对螺内酯缺乏治疗反应，但对阿米洛利反应良好，且停药后高血压和代谢性碱中毒复发，随后接受阿米洛利治疗，确立了 Liddle 综合征的诊断。据我们所知，这是文献报道的最年轻的利德尔综合征患者。
A 10-week-old female infant developed hypertension. The elevated blood pressure was associated with metabolic alkalosis and urinary chloride wastage. The family history was unremarkable. Her urinalysis, blood urea nitrogen (BUN), and serum creatinine concentrations were all normal. A renal ultrasound was normal. A technetium-99m diethylenetriaminopentoacetic acid (DTPA) renal scan with captopril showed normal blood flow bilaterally. The head ultrasound and echocardiogram were normal. Blood epinephrine, norepinephrine, catecholamines, thyroxine, and steroid levels were also normal. Treatment with various combinations of labetalol, hydralazine, captopril, methyldopa, nifedipine, and spironolactone, all at high doses, failed to control the elevated blood pressure. Serum aldosterone level and peripheral plasma renin activity were low. The lack of therapeutic response to spironolactone, with a good response to amiloride and recurrence of hypertension and metabolic alkalosis after amiloride cessation that was subsequently treated with amiloride, established the diagnosis of Liddle syndrome. To our knowledge, this is the youngest patient with, Liddle syndrome that has been reported in the literature.