Literature DB >> 23099837

[Renal glycosuria: report of two cases].

Joana Chaves Rebelo1, Felisbela Rocha, Susana Gama de Sousa, Paulo Teixeira.   

Abstract

Glycosuria as an accidental finding implies a diagnostic workout. We present the cases of two asymptomatic female teenagers referred to a hospital outpatient clinic due to isolated glycosuria detected in a routine analysis. The diagnostic workout revealed isolated glycosuria in the absence of other abnormalities. The genetic study confirmed the diagnosis of renal glycosuria, by revealing SCL5A2 gene mutations. Renal glycosuria is characterized by persistent glycosuria in the absence of hyperglycaemia or generalized renal tubular dysfunction. It's usually asymptomatic and has good prognosis. The authors call the attention to this rare entity, since it can be the reason for reference to a hospital outpatient clinic, underlining the importance of a differential diagnosis with more serious diseases that require proper treatment.

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Year:  2012        PMID: 23099837     DOI: 10.5935/0101-2800.20120013

Source DB:  PubMed          Journal:  J Bras Nefrol        ISSN: 0101-2800


  1 in total

1.  Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay.

Authors:  Sai Wang; Yixiu Wang; Jinchao Wang; Zhiying Liu; Ruixiao Zhang; Xiaomeng Shi; Yue Han; Wencong Guo; Irene Bottillo; Leping Shao
Journal:  Front Genet       Date:  2020-11-05       Impact factor: 4.599

  1 in total

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