[巴特综合征还是肾小管酸中毒?]。

Sbornik lekarsky Pub Date : 2003-01-01
J Reiterová, J Zabka, R Rysavá, M Merta, Z Ríhová, D Kmentová, V Tesar
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引用次数: 0

摘要

以低钾血症和代谢性碱中毒为特征的明显遗传性电解质紊乱的正常血压患者,在诊断Bartter综合征或Gitelman综合征时,通常有明显的怀疑。在过去的两年里,我们第一医学院第一内科肾内科收治了三名患者,他们表现为低钾血症、代谢性碱中毒和碱性尿,之前被诊断为(不完全)肾小管酸中毒。在本文中,我们给出了三个诊断为Bartter/Gitelman综合征的患者的临床表现。总之,本文讨论了这种复杂的酸碱平衡障碍的鉴别诊断问题,并提出了新的突变研究诊断方法。
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[Bartter syndrome or renal tubular acidosis?].

In normotensive patients (pts) with apparently inherited electrolyte disorder characterized by hypokalemia and with metabolic alkalosis the suspicion is usually pronounced on the diagnosis of Bartter syndrome or Gitelman syndrome. During the last two years three pts were admitted to our nephrologic unit of the 1st Internal Department of the 1st Medical School who presented with hypokalemia, metabolic alkalosis and alkalic urine and were followed previously under working diagnosis of (incomplete) renal tubular acidosis. In the article we give the description of the clinical picture in the three pts diagnosed as Bartter/Gitelman syndrome. In conclusion--the problems of differential diagnosis in pts with such a complex disorder of acidobase balance are discussed and new diagnostic approach with mutational studies is suggested.

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