The Experts below are selected from a list of 174 Experts worldwide ranked by ideXlab platform
L.a.h. Monnens - One of the best experts on this subject based on the ideXlab platform.
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Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2).
Human genetics, 2002Co-Authors: L.p.w.j. Van Den Heuvel, K.f.h. Assink, Michèl A.a.p. Willemsen, L.a.h. MonnensAbstract:Patients with primary renal glucosuria have normal blood glucose levels, normal oral glucose tolerance test results, and isolated persistant glucosuria. Congenital renal glucosuria is postulated to be attributable to defects in the SGLT2 gene. The Na(+)/glucose cotransporter gene SGLT2 (= SLC5A2) was analyzed in a Turkish patient with congenital isolated renal glucosuria. Genomic DNA was used as a template for amplification by the polymerase chain reaction of each of the 14 exons of the SGLT2 gene. The amplification products were sequenced. DNA sequence analysis revealed a homozygous nonsense mutation in exon 11 of the SGLT2 gene leading to the formation of a truncated cotransporter. Both parents and a younger brother, all three without renal glucosuria, are heterozygous for the nonsense mutation. Our data provide the first direct evidence of an etiologic role for the sodium/glucose cotransporter type 2 in the pathogenesis of renal glucosuria.
Xianghai Zhou - One of the best experts on this subject based on the ideXlab platform.
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Clinical and Genetic Features of Patients With Type 2 Diabetes and Renal Glycosuria.
The Journal of clinical endocrinology and metabolism, 2017Co-Authors: Siqian Gong, Jiandong Guo, Xueyao Han, Lingli Zhou, Xiaoling Cai, Yu Zhu, Yingying Luo, Simin Zhang, Xianghai ZhouAbstract:Context A sodium glucose cotransporter 2 (SGLT2) inhibitor, which increases urinary glucose excretion, was reported to decrease blood glucose levels and deaths among patients with type 2 diabetes mellitus (T2DM) and established cardiovascular disease. SLC5A2 and HNF1A mutations are associated with renal Glycosuria, but their contributions to renal Glycosuria in patients with T2DM are not well understood. Objective To assess the clinical features of patients with T2DM and renal Glycosuria and those with T2DM and low urinary glucose excretion (LUGE) and identify variants in the exons of SLC5A2 and HNF1A in patients with renal Glycosuria and T2DM. Design A total of 2044 Chinese patients with T2DM, including 64 patients with renal Glycosuria and 58 patients with LUGE, were tested for their plasma and urine glucose concentrations after fasting. SLC5A2 and HNF1A exons were sequenced. Results Compared with patients with LUGE, those with renal Glycosuria were younger (P = 0.008), had lower body mass index (BMI) (P = 0.002) and Homeostatic Model Assessment of Insulin Resistance (HOMA-IR) values (P < 0.0001), and were less likely to have hypertension (P = 0.006). HOMA-IR and BMI were negatively associated with renal Glycosuria after adjusting for age, sex, hypertension, and insulin therapy. One novel mutation (V359G) of SLC5A2 in 32 patients with renal Glycosuria and one known mutation (R131W) of HNF1A in 28 nonobese patients with renal Glycosuria were identified. Conclusions These findings suggest that there are subtypes of T2DM characterized by different urinary glucose excretion and cardiovascular risk factors. SLC5A2 and HNF1A mutations partially explain renal Glycosuria in patients with T2DM.
L.p.w.j. Van Den Heuvel - One of the best experts on this subject based on the ideXlab platform.
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Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2).
Human genetics, 2002Co-Authors: L.p.w.j. Van Den Heuvel, K.f.h. Assink, Michèl A.a.p. Willemsen, L.a.h. MonnensAbstract:Patients with primary renal glucosuria have normal blood glucose levels, normal oral glucose tolerance test results, and isolated persistant glucosuria. Congenital renal glucosuria is postulated to be attributable to defects in the SGLT2 gene. The Na(+)/glucose cotransporter gene SGLT2 (= SLC5A2) was analyzed in a Turkish patient with congenital isolated renal glucosuria. Genomic DNA was used as a template for amplification by the polymerase chain reaction of each of the 14 exons of the SGLT2 gene. The amplification products were sequenced. DNA sequence analysis revealed a homozygous nonsense mutation in exon 11 of the SGLT2 gene leading to the formation of a truncated cotransporter. Both parents and a younger brother, all three without renal glucosuria, are heterozygous for the nonsense mutation. Our data provide the first direct evidence of an etiologic role for the sodium/glucose cotransporter type 2 in the pathogenesis of renal glucosuria.
Shohreh Beheshti - One of the best experts on this subject based on the ideXlab platform.
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Transient renal glucosuria in patients with tetanus.
Nephron, 1998Co-Authors: Gholam-reza Rezaian, Parviz Khajehdehi, Shohreh BeheshtiAbstract:Background/Aims: During our early years of experience with patients suffering from tetanus, some of them were found to have unexplained renal glucosuria. Methods: Thus, all the normoglycemic patients with tetanus who were consecutively encountered over the subsequent 8 years were studied for the presence of renal glucosuria. Results: From 92 cases of tetanus admitted to the intensive-care unit, 63 patients had normal blood sugar in the course of their illness. The quantitative measurement of 24-hour urine confirmed the presence of significant renal glucosuria in 52% (n = 33) of these cases. The renal glucosuria was of transient nature and decreased to normal levels in the recovery stage (4 weeks after discharge from the hospital). There was no significant difference in age, sex, severity of disease and site of entry between the two groups of the patients with and without renal glucosuria. Conclusion: Significant but transient glucosuria of renal origin possibly induced by tetanospasmin is common in patients with tetanus.
J.r. Subramaniam - One of the best experts on this subject based on the ideXlab platform.
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Glycosuria and diabetes mellitus in children and adolescents in south India.
Diabetes Research and Clinical Practice, 1991Co-Authors: P.v. Asha Bai, C.v. Krishnaswami, M. Chellamariappan, G. Vijaya Kumar, J.r. SubramaniamAbstract:Abstract In Madras city (India) 10513 school students between 3 and 20 yr of age were investigated for Glycosuria and its causes. While no previously known cases of diabetes mellitus of any type were encountered, four students (0.038%) in the survey population were found to have Glycosuria. One (0.009%) had renal Glycosuria, two (0.019%) were possibly NIDDY (MODY) and one (0.009%) had transient Glycosuria while receiving anti-tuberculous chemotherapy. It is therefore concluded that neither diabetes mellitus nor Glycosuria of non-diabetic causes is a crucial health problem in Indian children and adolescents. While the reasons for this are not known, further research in this field could be of global interest.