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一例 20 岁男性无家族遗传病史的 Gordon 综合征病例报告。

A case report of Gordon's syndrome in a 20-year-old male with free medical family history.

机构信息

European Society of Hypertension Center of Excellence, Laiko University Hospital, Athens, Greece.

出版信息

Hellenic J Cardiol. 2013 Jan-Feb;54(1):64-8.

Abstract

Gordon's syndrome is a rare autosomal dominant disease that manifests in childhood. It is characterized by hypertension, hyperkalemic hyperchloremic metabolic acidosis, low renin and usually normal aldosterone levels, and it is sensitive to thiazide diuretics. A 20-year-old male with a history of diagnosed Gordon's syndrome was referred to a nephrology clinic for evaluation. The patient, who was under treatment with hydrochlorothiazide, had been diagnosed with Gordon's syndrome at the age of 11, when he presented hypertension and episodes of hyperkalemic hyperchloremic metabolic acidosis. However, none of his relatives had been diagnosed with this syndrome. Therefore, we assume that our patient might be a case of de novo gene mutation.

摘要

高登综合征是一种罕见的常染色体显性遗传病,多在儿童期发病。其特征为高血压、高血钾性高氯性代谢性酸中毒、低肾素但通常醛固酮正常,对噻嗪类利尿剂敏感。一位 20 岁男性,既往确诊高登综合征,因评估病情至肾内科就诊。该患者正在服用氢氯噻嗪,于 11 岁时被诊断为高登综合征,当时他出现了高血压和高血钾性高氯性代谢性酸中毒。然而,他的亲属均未被诊断为这种综合征。因此,我们假设该患者可能为新发基因突变病例。

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