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范科尼综合征

Fanconi Syndrome.

作者信息

Foreman John W

机构信息

Department of Pediatrics, Duke University School of Medicine, Erwin Road, Durham, NC 27710, USA.

出版信息

Pediatr Clin North Am. 2019 Feb;66(1):159-167. doi: 10.1016/j.pcl.2018.09.002.

Abstract

Fanconi syndrome, also known as the DeToni, Debré, Fanconi syndrome is a global dysfunction of the proximal tubule characterized by glucosuria, phosphaturia, generalized aminoaciduria, and type II renal tubular acidosis. Often there is hypokalemia, sodium wasting, and dehydration. In children, it typically is caused by inborn errors of metabolism, principally cystinosis. In adults, it is mainly caused by medications, exogenous toxins, and heavy metals. Treatment consists of treating the underlying cause and replacing the lost electrolytes and volume.

摘要

范科尼综合征,也称为德托尼 - 德布勒 - 范科尼综合征,是近端肾小管的一种全身性功能障碍,其特征为糖尿、磷酸盐尿、全身性氨基酸尿和II型肾小管酸中毒。常伴有低钾血症、钠丢失和脱水。在儿童中,它通常由先天性代谢缺陷引起,主要是胱氨酸病。在成人中,主要由药物、外源性毒素和重金属引起。治疗包括治疗潜在病因以及补充丢失的电解质和液体量。

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