ABSTRACT
A glicosúria como achado acidental implica um estudo etiológico. Apresentam-se os casos de duas adolescentes do sexo feminino, assintomáticas, referenciadas por glicosúria detectada em análise de rotina. Negavam infecções, traumatismos e ingestão de fármacos ou tóxicos. O estudo efetuado confirmou glicosúria na ausência de outras alterações. O estudo genético revelou a presença de mutações do gene SCL5A2, confirmando o diagnóstico de glicosúria renal. A glicosúria renal familiar caracteriza-se por glicosúria isolada persistente na ausência de hiperglicemia e de disfunção tubular renal generalizada. É, geralmente, assintomática e o prognóstico é favorável. Alerta-se para esta rara entidade, pois pode ser motivo de referenciação para consulta de pediatria, salientando-se a importância do diagnóstico diferencial com afecções mais graves que necessitam de tratamento adequado.
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.
Subject(s)
Adolescent , Female , Humans , Glycosuria, Renal/diagnosisABSTRACT
Objective To establish heterologous expression system of Na+-glucose cotransporter 2 (SGLT2) gene.Methods Human SGLT2 cDNA from normal kidney, generated by RT-PCR,was subclonedintoPEXL-GFP vector andtransfectedinto HEK293cells. After 24hours of incubation, the expression of SGLT2-GFP fusion protein was detected by Western blotting and laser confocal microscopy.Transport activity of SGLT2-GFP fusion proteins in cultured human HEK293 cells was evaluated with the uptake test of glucose analogue.ResultsSGLT2-GFP fusion protein was expressed in cultured human HEK293 cells.Furthermore, confocal microscopy using green fluorescent protein(GFP) revealed a punctate membrane pattern of SGLT2.Glucose analogue uptake increased in HEK293 cells transfected with SGLT2-GFP at least by 3.5 folds compared with HEK293 cells transfected with GFP vector only(P＜0.01).Conclusion Heterologous expression of SGLT2 gene in HEK293 cells is successfully established, which provides valuable approach for the functional and pathological study of SGLT2 gene.
ABSTRACT
Objective:To study the changes of serum advanced oxidation protein products(AOPP) in patients with diabetic nephropathy(DN) and its correlationship with superoxide dismutase(SOD) and glutathione peroxidase(GPx). Methods: Eighty-five diabetes mellitus (DM) patients were divided into 4 groups: non-DN group(DM, n=25), early-stage DN group(DN3, (n=24), )significant DN group(DN4, n=17) and end-stage DN group(DN5, n=17). The concentration of serum AOPP was measured spectrophotometerically, serum SOD was determined by xanthine oxidase test and GPx by DTNB reaction test. (Results:) The concentrations of AOPP in patients of DN5 group (-[117.8?64.8-] ?mol/L) and DN4 group (-[80.0?23.0-] ?mol/L) were significantly higher than that in DM group (-[58.2?17.7-] ?mol/L,P0.05) and negatively correlated with SOD and GPx(r=-0.217, r=-0.374, P