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A very unusual case of hypokalaemia

机译:低钾血症非常罕见的情况

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摘要

Cystic fibrosis (CF) is diagnosed in the first years of life. There are only two reports in the literature of adult patients with unusual presentation of newly diagnosed CF. We report here an adult patient apparently in a good health, who presented with serious hypokalaemia and metabolic alkalosis as the only abnormalities, who, through a fortuitous event, was tested by additional means for seemingly unrelated conditions that led to evidence of signs typical of CF, which was then confirmed by genetic analyses. This is the first adult patient in Italy with newly diagnosed CF. As unexplained hypokalaemia in an apparently healthy adult is very rare and has now been shown to represent an uncommon presentation of CF, physicians must take these facts into account when determining an appropriate imaging, biochemical work-up and genetic analyses to arrive at a diagnosis.
机译:生命最初几年诊断为囊性纤维化(CF)。在成年患者中,新诊断的CF表现异常的文献只有两篇。我们在这里报告了一名显然身体健康的成年患者,他患有严重的低钾血症和代谢性碱中毒,这是唯一的异常,通过一次偶然的事件,该患者通过其他方式接受了看似无关的疾病的检测,从而导致了典型的CF征象,然后通过遗传分析得到证实。这是意大利首例新诊断的CF患者。由于在一个显然健康的成年人中无法解释的低钾血症非常罕见,并且现已被证明代表一种罕见的CF表现,因此在确定适当的影像学,生化检查和基因分析以进行诊断时,医生必须考虑这些事实。

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