EAST syndrome: when the nephrologist calls the neurologist.

IF 2.4 Q2 CLINICAL NEUROLOGY

PRACTICAL NEUROLOGY Pub Date : 2025-06-02 DOI:10.1136/pn-2025-004565

Pedro Fraiman, Thiago Yoshinaga Tonholo Silva, Breno Kazuo Massuyama, Luiza Alves Corazza, Luane Abdalla Gouvea, Ivana Rocha Raslan, Orlando G P Barsottini, José Luiz Pedroso

引用次数: 0

Abstract

A 32-year-old woman had experienced recurrent seizures since infancy, with progressive ataxia, dystonia, and electrolyte disturbances, suggesting a possible genetic tubulopathy with neurological manifestations. The complexity of her presentation highlights the importance of a multidisciplinary approach and the role of genetic investigations in uncovering rare conditions that bridge neurology and nephrology.

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东症候群：当肾脏科医生给神经科医生打电话时。

一名32岁女性自婴儿期起反复发作，伴进行性共济失调、肌张力障碍和电解质紊乱，提示可能的遗传性小管病伴神经系统表现。她的演讲的复杂性突出了多学科方法的重要性，以及基因研究在发现神经病学和肾脏病学之间桥梁的罕见疾病中的作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

PRACTICAL NEUROLOGY Medicine-Neurology (clinical)

CiteScore

3.70

自引率

3.60%

发文量

113

期刊介绍： The essential point of Practical Neurology is that it is practical in the sense of being useful for everyone who sees neurological patients and who wants to keep up to date, and safe, in managing them. In other words this is a journal for jobbing neurologists - which most of us are for at least part of our time - who plough through the tension headaches and funny turns week in and week out. Primary research literature potentially relevant to routine clinical practice is far too much for any neurologist to read, let alone understand, critically appraise and assimilate. Therefore, if research is to influence clinical practice appropriately and quickly it has to be digested and provided to neurologists in an informative and convenient way.