Familial renal glucosuria is an inherited renal tubular disorder. A homozygous nonsense mutation in the SLC5A2 gene, encoding the sodium/glucose co-transporter SGLT2, has recently been identified in an affected child of consanguineous parents. We now report novel compound heterozygous mutations in the son of non-consanguineous parents. One allele has a p.Q167fsX186 mutation, which is expected to produce a truncated protein, and the other a p.N654S mutation involving a highly conserved residue. These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00439-003-1054-x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Tenofovir-associated Fanconi Syndrome in liver transplant recipients with hepatitis B: A retrospective case series.
Am J Transplant
December 2024
Division of Gastroenterology, Hepatology, and Nutrition, University of Minnesota, Minneapolis, MN. Electronic address:
Tenofovir-associated Fanconi Syndrome (TAFS) is a proximal renal tubule disorder rarely reported in patients after liver transplantation (LT) for hepatitis B (HBV). In a retrospective review of 79 HBV-LT recipients, 8/66 (12.1%) on tenofovir post-LT developed TAFS.
View Article and Find Full Text PDFFamilial renal glycosuria as a genetic model of long-term SGLT2 inhibition: potential implications for calcium phosphate metabolism and bone health.
J Nephrol
December 2024
Department II of Internal Medicine and Center for Molecular Medicine Cologne, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Investigation of glucosuria in children.
Minerva Pediatr (Torino)
December 2024
Department of Pediatrics, Second Faculty of Medicine, Motol University Hospital, Charles University, Prague, Czech Republic.
Article Synopsis
- Previous recommendations on diagnosing familial renal glucosuria lacked a comprehensive understanding of glucosuria's differential diagnosis.
- This review aims to summarize the various causes of glucosuria and propose an evidence-based diagnostic approach for children affected by it.
- The findings indicate that several factors, including genetic and acquired conditions, can impact glucose reabsorption in the kidneys, necessitating the exclusion of diabetes mellitus and other hyperglycemia-related conditions before making a diagnosis.
Association between glycosuria and albuminuria in patients with type 2 diabetes from the CREDENCE trial: a mechanistic link?
BMJ Open Diabetes Res Care
December 2024
Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Elevated Blood Glucose Can Promote Uric Acid Excretion: A Cross-Sectional Study Involving Urinary Glucose and Urinary Uric Acid in China.
Diabetes Metab Syndr Obes
November 2024
Department of Health Care, qilu Hospital (Qingdao), cheeloo College of Medicine, Shandong University, Qingdao, Shandong, People's Republic of China.
Article Synopsis
- This study investigates the relationship between uric acid and blood glucose levels, focusing on how urinary glucose affects their excretion.
- A total of 2498 hospitalized patients were recruited, with 1416 included in the final analysis, utilizing various statistical methods to evaluate differences based on gender.
- The findings suggest that higher blood glucose levels, especially when glucosuria occurs, lead to increased uric acid excretion and decreased serum uric acid levels, with a stronger correlation observed in women compared to men.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!