A thiazide test for the diagnosis of renal tubular hypokalemic disorders
A thiazide test for the diagnosis of renal tubular hypokalemic disorders
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DOI：
10.2215/cjn.02950906
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发表时间：
2007-05-01
影响因子：
9.8
通讯作者：
Bianchetti, Mario Giovanni
中科院分区：
文献类型：
--
作者：
Colussi, Giacomo;Bettinelli, Alberto;Bianchetti, Mario Giovanni
尽管现在可以通过基因分析诊断吉特曼综合征（GS）和巴特综合征（BS），但对这些疾病进行基因检测仍然受到一些困难的阻碍，包括基因尺寸大、缺乏热点突变、繁重的检查时间和成本。本研究在一组经过基因证明的 GS 或 BS 患者中评估了口服氢氯噻嗪利尿试验（HCT 试验）的诊断敏感性和特异性。研究对象为 41 名 GS 患者（22 名成人，年龄 25 至 57 岁；19 名儿童青少年，年龄 7 至 17 岁）和 7 名 BS 患者（5 名 I 型，2 名 III 型）；还包括三名因秘密摄入利尿剂（两名患者）或呕吐（一名患者）而出现“假性BS”的患者。 HCT 测试包括口服 50 mg HCT（儿童青少年为 1 mg/kg），并测量随后 3 小时内氯离子清除率相对于基础值的最大利尿剂增加。除 3 名 GS 患者外，所有 BS 和假 BS 患者均表现迟钝（
Although the diagnosis of Gitelman syndrome (GS) and Bartter syndrome (BS) is now feasible by genetic analysis, implementation genetic testing for these disorders is still hampered by several difficulties, including large gene dimensions, lack of hot-spot mutations, heavy workup time, and costs. This study evaluated in a cohort of patients with genetically proven GS or BS diagnostic sensibility and specificity of a diuretic test with oral hydrochlorothiazide (HCT test). Forty-one patients with GS (22 adults, aged 25 to 57; 19 children-adolescents, aged 7 to 17) and seven patients with BS (five type I, two type III) were studied; three patients with "pseudo-BS" from surreptitious diuretic intake (two patients) or vomiting (one patient) were also included. HCT test consisted of the administration of 50 mg of HCT orally (1 mg/kg in children-adolescents) and measurement of the maximal diuretic-induced increase over basal in the subsequent 3 h of chloride fractional clearance. All but three patients with GS but no patients with BS and pseudo-BS showed blunted (