Approach to renal clycosuria in children: a case report

Authors

  • Patrícia Pais Paediatric Service of Hospital Garcia de Orta
  • Filipa Reis Paediatric Service of Hospital Garcia de Orta
  • Sofia Fraga Paediatric Service of Hospital Garcia de Orta
  • Maria Gomes Ferreira Paediatric Service of Hospital Garcia de Orta
  • Rosário Amaral Paediatric Service of Hospital Garcia de Orta

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v23.i1.8589

Keywords:

Aminoaciduria, familial renal glycosuria, glucosuria, glycinuria, SGLT2, SLC5A2

Abstract

Introduction: The accidental finding of glycosuria should lead to the exclusion of diabetes mellitus. In the absence of hyperglycemia, glycosuria is probably of renal origin. It can be isolated, as in familiar renal glycosuria, or it can be part of a hereditary tubular disorder such as Fanconi-Bickel syndrome or associated with an acquired tubular dysfunction. The renal and tubular function should be investigated.

Case report: The authors describe the case of a previously healthy five-year old child with persistent glycosuria of renal cause. The investigation showed the coexistence of elevated renal excretion of glycine.

Discussion: Familiar renal glycosuria and hyperglycinuria are caused by genetic defects in different renal tubular membrane transporters. The rare association of glycosuria and glycinuria was only described in one family in the 1960’s. The authors discuss the possible pathophysiologic mechanisms of this association and the importance of studying other tubulopathies in a child with glycosuria as it has prognostic and clinical management implications.

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References

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Published

2016-02-23

How to Cite

1.
Pais P, Reis F, Fraga S, Ferreira MG, Amaral R. Approach to renal clycosuria in children: a case report. REVNEC [Internet]. 2016Feb.23 [cited 2024Apr.16];23(1):29-31. Available from: https://revistas.rcaap.pt/nascercrescer/article/view/8589

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Section

Case Reports