Background

Renal glucosuria is characterised by the excretion of glucose in the urine in detectable amounts at normal blood glucose concentrations without signs of generalized proximal renal tubular dysfunction due to reduced renal tubular glucose reabsorption. The revised criteria for diagnosis of this condition include a normal oral glucose tolerance test regarding plasma glucose concentration, normal plasma levels of insulin, free fatty acids, glycosylated haemoglobin, and relatively stable urinary glucose levels (10 to 100 g/d; except during pregnancy, when it may increase) with glucose present in all urine samples. The urine should contain glucose as the only source of carbohydrates, and individuals should have normal carbohydrate storage and use.

The inherited form of this disorder is called familial renal glucosuria (FRG) [FRG: Online Mendelian Inheritance in Man (https://www.omim.org) no. 233100]. FRG is a rare disorder due mainly to mutations in the sodium-glucose cotransporter 2 (SGLT2) gene (SLC5A2), which is responsible for most cases.^{[1, 2, 3, 4, 5]}A diagnosis of FRG depends on detecting urine glucose levels. Thus, it may be missed due to alterations in the urine glucose level. For example, the amount of sugar consumed recently will impact the urine glucose level. To date, over 86 mutations of the

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Author

Rajendra Bhimma, MD, MBChB, PhD, DCH (SA), FCP(Paeds)(SA), MMed(Natal) Full Professor of Pediatrics, Principal Specialist, Department of Pediatrics and Child Health, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, South Africa

Rajendra Bhimma, MD, MBChB, PhD, DCH (SA), FCP(Paeds)(SA), MMed(Natal) is a member of the following medical societies: African Association of Nephrology, American Association for the Advancement of Science, International Pediatric Nephrology Association, International Society of Nephrology, National Kidney Foundation, South African Medical Association, South African Paediatric Association, South African Renal Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Luther Travis, MD Professor Emeritus, Departments of Pediatrics, Nephrology and Diabetes, University of Texas Medical Branch School of Medicine

Luther Travis, MD is a member of the following medical societies: Alpha Omega Alpha, American Federation for Medical Research, International Society of Nephrology, Texas Pediatric Society

Disclosure: Nothing to disclose.

Chief Editor

Craig B Langman, MD Tenured Professor of Pediatrics, The First Isaac A Abt, MD, Professor of Kidney Diseases (Emeritus), Northwestern University, The Feinberg School of Medicine; Staff Nephrologist, The Ann and Robert H Lurie Children’s Hospital of Chicago

Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Federation for Clinical Research, American Society for Bone and Mineral Research, American Society of Nephrology, American Society of Pediatric Nephrology, Association of Clinical Scientists, Cochrane Collaboration, International Bone and Mineral Society, International Conferences on Calcium Regulating Hormones, International Pediatric Nephrology Association, International Society of Nephrology, International Society of Renal Nutrition and Metabolism, Midwest Society for Pediatric Research, Pediatric Academic Societies, ROCK (Research on Calculus Kinetics) Society, Society for Pediatric Research

Disclosure: Received income in an amount equal to or greater than $250 from: Alexion Pharmaceuticals; Horizon Pharmaceuticals); Dicerna Pharmaceuticals<br/>Incyte Pharmaceuticals; Eli Lilly for: Federation bio; Dicerna pharmaceuticals.

Additional Contributors

Laurence Finberg, MD Clinical Professor, Department of Pediatrics, University of California, San Francisco, School of Medicine and Stanford University School of Medicine

Laurence Finberg, MD is a member of the following medical societies: American Medical Association

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Leonard G Feld, MD, PhD, to the development and writing of this article.

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