Persistently high urine glucose levels caused by familial renal glycosuria

Glycosuria generally occurs when the threshold for glucose reabsorption by the proximal renal tubule is exceeded or when reabsorption of filtered glucose is impaired. Although the discovery of glycosuria in a child will prompt screening for diabetes mellitus, it is also a sign of a rare tubulopathy...

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Bibliographic Details
Published in:Archives de pédiatrie : organe officiel de la Société française de pédiatrie 2020-10, Vol.27 (7), p.386-387
Main Authors: Djeddi, D., Cauliez, A., Oulebsir, A., Hureaux, M., Vanrenterghem, A., Vargas-Poussou, R.
Format: Article
Language:English
Subjects:
Genetics disease
Glycosuria
Life Sciences
Tubulopathy
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Summary:Glycosuria generally occurs when the threshold for glucose reabsorption by the proximal renal tubule is exceeded or when reabsorption of filtered glucose is impaired. Although the discovery of glycosuria in a child will prompt screening for diabetes mellitus, it is also a sign of a rare tubulopathy called “familial renal glycosuria” (OMIM #233100). This tubulopathy is linked to a defect in the sodium–glucose co-transporter 2, encoded by the SLC5A2 gene. Here, we describe and discuss two pediatric cases in whom familial renal glycosuria was discovered fortuitously after the observation of persistently high urine glucose levels in the absence of hyperglycemia.
ISSN:0929-693X
1769-664X
DOI:10.1016/j.arcped.2020.07.002