Investigation of glucosuria in children.

IF 1 Q3 PEDIATRICS Minerva Pediatrics Pub Date : 2024-12-09 DOI:10.23736/S2724-5276.24.07616-X
Patrik Konopásek, Vít Neuman, Barbora Piteková, Jakub Zieg, Jan Lebl
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Abstract

Previous reports provided recommendations for familial renal glucosuria diagnosis without complex view on differential diagnosis of glucosuria. The aim of this review was to provide an overview of the causes of glucosuria and to create an evidence-based diagnostic approach for children with glucosuria. We searched the current literature with a focus to identify the possible etiology of glucosuria, gaining insight into the pathophysiology of glucosuria. Urinary glucose is completely reabsorbed in the proximal tubule of kidneys. It only appears in the urine if the plasma glucose concentration exceeds the renal threshold for glucose or in the case of insufficient renal glucose reabsorption. The proteins that provide glucose reabsorption are SGLT2 and SGLT1 - sodium-dependent co-transporters that transport glucose from the lumen into epithelial cells - and GLUT2 - a passive transporter providing facilitative glucose transport from epithelial cells to plasma. Renal glucose reabsorption is affected in case of acquired or inherited complex dysfunction of proximal tubule called Fanconi Syndrome or due to pathogenic variants of genes encoding glucose transporters. Prior to diagnosing any of these, diabetes mellitus must be excluded together with other conditions leading to hyperglycemia. In conclusion, glucosuria is always an abnormal finding. The review provides a simple evidence-based diagnostic approach to navigate the differential diagnosis of glucosuria.

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儿童高血糖的调查。
以往的报道对家族性肾性血糖的诊断建议较多,对血糖的鉴别诊断没有复杂的认识。本综述的目的是提供一个概述的原因,并创建一个以证据为基础的诊断方法,为儿童的血糖。我们检索了当前的文献,重点是确定可能的病因,获得对血糖的病理生理学的见解。尿糖在肾近端小管中被完全重吸收。只有当血浆葡萄糖浓度超过肾葡萄糖阈值或肾葡萄糖再吸收不足时,才会出现在尿中。提供葡萄糖重吸收的蛋白质是SGLT2和SGLT1 -钠依赖性共转运蛋白,将葡萄糖从管腔转运到上皮细胞-和GLUT2 -一种被动转运蛋白,提供促进葡萄糖从上皮细胞转运到血浆。在获得性或遗传性的近端小管复杂功能障碍(称为Fanconi综合征)或由于编码葡萄糖转运蛋白的基因的致病性变异而影响肾葡萄糖重吸收。在诊断这些疾病之前,必须排除糖尿病和其他导致高血糖的疾病。总之,血糖总是一种异常的表现。该综述提供了一种简单的循证诊断方法来指导血糖的鉴别诊断。
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