Approach to renal glycosuria in children: a case report

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.

Saved in:
Bibliographic Details
Main Authors: Pais,Patrícia, Reis,Filipa, Fraga,Sofia, Ferreira,Maria Gomes, Amaral,Rosário
Format: Digital revista
Language:English
Published: Centro Hospitalar do Porto 2014
Online Access:http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000100007
Tags: Add Tag
No Tags, Be the first to tag this record!
id oai:scielo:S0872-07542014000100007
record_format ojs
spelling oai:scielo:S0872-075420140001000072017-01-24Approach to renal glycosuria in children: a case reportPais,PatríciaReis,FilipaFraga,SofiaFerreira,Maria GomesAmaral,Rosário Aminoaciduria familial renal glycosuria glucosuria glycinuria SGLT2 SLC5A2 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.info:eu-repo/semantics/openAccessCentro Hospitalar do PortoNascer e Crescer v.23 n.1 20142014-03-01info:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000100007en
institution SCIELO
collection OJS
country Portugal
countrycode PT
component Revista
access En linea
databasecode rev-scielo-pt
tag revista
region Europa del Sur
libraryname SciELO
language English
format Digital
author Pais,Patrícia
Reis,Filipa
Fraga,Sofia
Ferreira,Maria Gomes
Amaral,Rosário
spellingShingle Pais,Patrícia
Reis,Filipa
Fraga,Sofia
Ferreira,Maria Gomes
Amaral,Rosário
Approach to renal glycosuria in children: a case report
author_facet Pais,Patrícia
Reis,Filipa
Fraga,Sofia
Ferreira,Maria Gomes
Amaral,Rosário
author_sort Pais,Patrícia
title Approach to renal glycosuria in children: a case report
title_short Approach to renal glycosuria in children: a case report
title_full Approach to renal glycosuria in children: a case report
title_fullStr Approach to renal glycosuria in children: a case report
title_full_unstemmed Approach to renal glycosuria in children: a case report
title_sort approach to renal glycosuria in children: a case report
description 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.
publisher Centro Hospitalar do Porto
publishDate 2014
url http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000100007
work_keys_str_mv AT paispatricia approachtorenalglycosuriainchildrenacasereport
AT reisfilipa approachtorenalglycosuriainchildrenacasereport
AT fragasofia approachtorenalglycosuriainchildrenacasereport
AT ferreiramariagomes approachtorenalglycosuriainchildrenacasereport
AT amaralrosario approachtorenalglycosuriainchildrenacasereport
_version_ 1756001752804491264