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 1960s.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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Centro Hospitalar do Porto
2014
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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 1960s.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 |
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Pais,Patrícia Reis,Filipa Fraga,Sofia Ferreira,Maria Gomes Amaral,Rosário |
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Pais,Patrícia Reis,Filipa Fraga,Sofia Ferreira,Maria Gomes Amaral,Rosário Approach to renal glycosuria in children: a case report |
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Pais,Patrícia Reis,Filipa Fraga,Sofia Ferreira,Maria Gomes Amaral,Rosário |
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Pais,Patrícia |
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Approach to renal glycosuria in children: a case report |
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Approach to renal glycosuria in children: a case report |
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Approach to renal glycosuria in children: a case report |
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Approach to renal glycosuria in children: a case report |
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Approach to renal glycosuria in children: a case report |
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approach to renal glycosuria in children: a case report |
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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 1960s.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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Centro Hospitalar do Porto |
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2014 |
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http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542014000100007 |
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1756001752804491264 |