Isolated renal glycosuria is a rare genetic disease caused by mutations in SLC5A2 gene. The mutation leads to a defect in glucose transporter, sodium-glucose co-transporter 2 (SGLT2), which is involved in the reabsorption of glucose from proximal tubules. Defect in this transporter leads to loss of glucose in urine. This rare disease has not been reported from Nepal previously, and here we report the first case. A 38-year-old female with complaint of tiredness and fatigue visited our medical centre. On clinical examinations, no other signs and symptoms were reported. The patient had no history of any other disease and the patient was not taking any supplements or medications. On repeated laboratory investigations, there were no signs of abnormal glucose metabolism and proximal tubular dysfunction. No evidence of hepatic, renal, and blood disorders, infection, haematuria, and proteinuria was present. Based on clinical and laboratory investigations, the patient was diagnosed as having isolated renal glycosuria. We report the first case of isolated renal glycosuria in Nepal. Because the disease is often asymptomatic, physicians and health professionals need to be aware of this condition which may occur in their community.
| Published in | International Journal of Clinical and Experimental Medical Sciences (Volume 6, Issue 6) |
| DOI | 10.11648/j.ijcems.20200606.14 |
| Page(s) | 133-135 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2024. Published by Science Publishing Group |
Glycosuria, Isolated, Nepal, Renal
| [1] | Santer R, Kinner M, Lassen CL, et al. Molecular analysis of the SGLT2 gene in patients with renal glucosuria. J Am Soc Nephrol. 2003; 14 (11): 2873-2882. doi: 10.1097/01.asn.0000092790.89332.d2. |
| [2] | Cowart SL, Stachura ME. Glucosuria. In: Walker HK, Hall WD, Hurst JW, editors. Clinical Methods: The History, Physical, and Laboratory Examinations. 3rd edition. Boston: Butterworths; 1990. Chapter 139. Available from: https://www.ncbi.nlm.nih.gov/books/NBK245/. |
| [3] | Aires I, Fila M, Polidori D, Santos AR, Costa AB, Calado J. Determination of the renal threshold for glucose excretion in Familial Renal Glucosuria. Nephron. 2015; 129 (4): 300-304. doi: 10.1159/000381677. |
| [4] | Wang S, Zhao X, Zhang R, Wang C, Han Y, Shao L. Identification of ten novel SLC5A2 mutations and determination of the renal threshold for glucose excretion in Chinese patients with familial renal glucosuria. Clin Chim Acta. 2019; 490: 102-106. doi: 10.1016/j.cca.2018.12.024. |
| [5] | Orem J, Mpanga L, Habyara E, Nambuya AM, Otim MA. Renal glycosuria treated as diabetes mellitus: case report. East Afr Med J. 1997; 74 (11): 740-742. |
| [6] | Lee H, Han KH, Park HW, et al. Familial renal glucosuria: a clinicogenetic study of 23 additional cases. Pediatr Nephrol. 2012; 27 (7): 1091-1095. doi: 10.1007/s00467-012-2109-9. |
| [7] | Prié D. Familial renal glycosuria and modifications of glucose renal excretion. Diabetes Metab. 2014; 40 (6 Suppl 1): S12-S16. doi: 10.1016/S1262-3636(14)72690-4. |
| [8] | Fishman B, Shlomai G, Twig G, et al. Renal glucosuria is associated with lower body weight and lower rates of elevated systolic blood pressure: results of a nationwide cross-sectional study of 2.5 million adolescents. Cardiovasc Diabetol. 2019; 18 (1): 124. Published 2019 Sep 25. doi: 10.1186/s12933-019-0929-7. |
| [9] | Gerich JE. Role of the kidney in normal glucose homeostasis and in the hyperglycaemia of diabetes mellitus: therapeutic implications. Diabet Med. 2010 Feb. 27 (2): 136-42. |
| [10] | Yu L, Hou P, Lv JC, Liu GP, Zhang H. Novel SLC5A2 variants contribute to renal glucosuria in Chinese families: abnormal expression and dysfunction of variant SLC5A2. Hum Mutat. 2015; 36 (1): 79-86. doi: 10.1002/humu.22714. |
| [11] | Li S, Yang Y, Huang L, Kong M, Yang Z. A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature. Mol Med Rep. 2019; 19 (5): 4364-4376. doi: 10.3892/mmr.2019.10110. |
APA Style
Uttam Kunwar, Narayan Dutt Pant, Saroj Khatiwada. (2020). A Case of Isolated Renal Glycosuria from Nepal. International Journal of Clinical and Experimental Medical Sciences, 6(6), 133-135. https://doi.org/10.11648/j.ijcems.20200606.14
ACS Style
Uttam Kunwar; Narayan Dutt Pant; Saroj Khatiwada. A Case of Isolated Renal Glycosuria from Nepal. Int. J. Clin. Exp. Med. Sci. 2020, 6(6), 133-135. doi: 10.11648/j.ijcems.20200606.14
AMA Style
Uttam Kunwar, Narayan Dutt Pant, Saroj Khatiwada. A Case of Isolated Renal Glycosuria from Nepal. Int J Clin Exp Med Sci. 2020;6(6):133-135. doi: 10.11648/j.ijcems.20200606.14
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Download@article{10.11648/j.ijcems.20200606.14,
author = {Uttam Kunwar and Narayan Dutt Pant and Saroj Khatiwada},
title = {A Case of Isolated Renal Glycosuria from Nepal},
journal = {International Journal of Clinical and Experimental Medical Sciences},
volume = {6},
number = {6},
pages = {133-135},
doi = {10.11648/j.ijcems.20200606.14},
url = {https://doi.org/10.11648/j.ijcems.20200606.14},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijcems.20200606.14},
abstract = {Isolated renal glycosuria is a rare genetic disease caused by mutations in SLC5A2 gene. The mutation leads to a defect in glucose transporter, sodium-glucose co-transporter 2 (SGLT2), which is involved in the reabsorption of glucose from proximal tubules. Defect in this transporter leads to loss of glucose in urine. This rare disease has not been reported from Nepal previously, and here we report the first case. A 38-year-old female with complaint of tiredness and fatigue visited our medical centre. On clinical examinations, no other signs and symptoms were reported. The patient had no history of any other disease and the patient was not taking any supplements or medications. On repeated laboratory investigations, there were no signs of abnormal glucose metabolism and proximal tubular dysfunction. No evidence of hepatic, renal, and blood disorders, infection, haematuria, and proteinuria was present. Based on clinical and laboratory investigations, the patient was diagnosed as having isolated renal glycosuria. We report the first case of isolated renal glycosuria in Nepal. Because the disease is often asymptomatic, physicians and health professionals need to be aware of this condition which may occur in their community.},
year = {2020}
}
TY - JOUR T1 - A Case of Isolated Renal Glycosuria from Nepal AU - Uttam Kunwar AU - Narayan Dutt Pant AU - Saroj Khatiwada Y1 - 2020/11/24 PY - 2020 N1 - https://doi.org/10.11648/j.ijcems.20200606.14 DO - 10.11648/j.ijcems.20200606.14 T2 - International Journal of Clinical and Experimental Medical Sciences JF - International Journal of Clinical and Experimental Medical Sciences JO - International Journal of Clinical and Experimental Medical Sciences SP - 133 EP - 135 PB - Science Publishing Group SN - 2469-8032 UR - https://doi.org/10.11648/j.ijcems.20200606.14 AB - Isolated renal glycosuria is a rare genetic disease caused by mutations in SLC5A2 gene. The mutation leads to a defect in glucose transporter, sodium-glucose co-transporter 2 (SGLT2), which is involved in the reabsorption of glucose from proximal tubules. Defect in this transporter leads to loss of glucose in urine. This rare disease has not been reported from Nepal previously, and here we report the first case. A 38-year-old female with complaint of tiredness and fatigue visited our medical centre. On clinical examinations, no other signs and symptoms were reported. The patient had no history of any other disease and the patient was not taking any supplements or medications. On repeated laboratory investigations, there were no signs of abnormal glucose metabolism and proximal tubular dysfunction. No evidence of hepatic, renal, and blood disorders, infection, haematuria, and proteinuria was present. Based on clinical and laboratory investigations, the patient was diagnosed as having isolated renal glycosuria. We report the first case of isolated renal glycosuria in Nepal. Because the disease is often asymptomatic, physicians and health professionals need to be aware of this condition which may occur in their community. VL - 6 IS - 6 ER -
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