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Familial renal glycosuria

Philip Kam-Tao Li, Jack Kit-Chung Ng, Yuk Lun Cheng, Tze Hoi Kwan, Chi Bon Leung, Miu Fong Lau, Koon Shing Choi, Samuel Ka-Shun Fung, Yiu Wing Ho, Siu Ka Mak, Sydney Chi-Wai Tang, Kin Shing Wong, David Yong, Sing Leung Lui
AIM: Family members of patients with end-stage renal disease (ESRD) have higher risk for chronic kidney disease (CKD). Limited study has examined the risk of developing CKD in relatives of patients in earlier stages of CKD. METHODS: From January 2008 to June 2009, the Hong Kong Society of Nephrology studied first-degree relatives of stage 1-5 CKD patients from 11 local hospitals. A total of 844 relatives of 466 index CKD patients (stages 1-2: 29.6%; stage 3: 16...
December 2017: Nephrology
F Wang, Y Yao, H X Yang, C Y Shi, X X Zhang, H J Xiao, H W Zhang, B G Su, Y Q Zhang, J F Guo, J Ding
Objective: Hepatocyte nuclear factor 1 homeobox b (HNF1B) -associated disease is an autosomal dominant inherited disorder with a variable, multi-systemic phenotype. In China, five adult probands and one child proband with HNF1B-associated disease had been reported, whereas few fetuses are described. The aims of this retrospective study were to understand about the clinical manifestations of HNF1B-associated disease and to further improve the recognition of this disorder. Method: Four patients (3 males, 1 female) and three fetuses with HNF1B mutations were included in this study...
September 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Kyeong Min Kim, Soon Kil Kwon, Hye-Young Kim
Familial renal glycosuria (FRG) is an inherited disorder characterized by persistent glycosuria in the absence of hyperglycemia. It is caused by mutations in the sodium-glucose co-transporter, leading to increase in the renal excretion of glucose and sodium. However, there have been no studies on the role of fasting and postprandial changes in the urinary sodium excretion in patients with FRG. We report a case of renal glycosuria, which was confirmed by a SLC5A2 mutation via gene sequencing, and compared the postprandial urinary glucose and sodium excretion...
December 2016: Electrolyte & Blood Pressure: E & BP
Xiangzhong Zhao, Li Cui, Yanhua Lang, Ting Liu, Jingru Lu, Cui Wang, Sylvie Tuffery-Giraud, Irene Bottillo, Xinsheng Wang, Leping Shao
Familial renal glycosuria (FRG) is caused by mutations in the SLC5A2 gene, which codes for Na(+)-glucose co-transporters 2 (SGLT2). The aim of this study was to analyze and identify the mutations in 16 patients from 8 families with FRG. All coding regions, including intron-exon boundaries, were analyzed using PCR followed by direct sequence analysis. Six mutations in SLC5A2 gene were identified, including five missense mutations (c.393G > C, p.K131N; c.1003A > G, p.S335G; c.1343A > G, p...
September 26, 2016: Scientific Reports
Caio Yogi Yonamine, Erika Pinheiro-Machado, Maria Luiza Michalani, Helayne Soares Freitas, Maristela Mitiko Okamoto, Maria Lucia Corrêa-Giannella, Ubiratan Fabres Machado
BACKGROUND: Resveratrol is a natural polyphenol that has been proposed to improve glycemic control in diabetes, by mechanisms that involve improvement in insulin secretion and activity. In type 1 diabetes (T1D), in which insulin therapy is obligatory, resveratrol treatment has never been investigated. The present study aimed to evaluate resveratrol as an adjunctive agent to insulin therapy in a T1D-like experimental model. METHODS: Rats were rendered diabetic by streptozotocin (STZ) treatment...
2016: Nutrition & Metabolism
Emilia Ottosson-Laakso, Tiinamaija Tuomi, Björn Forsén, Monika Gullström, Per-Henrik Groop, Leif Groop, Petter Vikman
Familial renal glycosuria is an inherited disorder resulting in glucose excretion in the urine despite normal blood glucose concentrations. It is most commonly due to mutations in the SLC5A2 gene coding for the glucose transporter SGLT2 in the proximal tubule. Several drugs have been introduced as means to lower glucose in patients with type 2 diabetes targeting SGLT2 resulting in renal glycosuria, but no studies have addressed the potential effects of decreased renal glucose reabsorption and chronic glycosuria on the prevention of glucose intolerance...
2016: PloS One
M C Thomas, K Jandeleit-Dahm, F Bonnet
For millennia, the syndrome that has become known as diabetes was considered to be primarily a disease of the urinary system and, by association, of dysfunction in the kidneys (recognized as the source of urine). In the last decade, there has been renewed interest in the role of the kidneys in the development and maintenance of high glucose levels. This has led to the development of novel agents to inhibit sodiumglucose cotransporter 2 (SGLT-2) as a means to control glucose levels and augment calorie-wasting leading to weight loss...
December 2014: Diabetes & Metabolism
D Prié
Under physiological conditions, the kidneys contribute to glucose homoeostasis by producing glucose by gluconeogenesis and preventing glucose loss in urine. The glucose filtered by the glomeruli is completely reabsorbed in the renal proximal tubule. Renal gluconeogenesis produces 25% of the circulating glucose in the postabsorptive state, while the amount of glucose reabsorbed by the kidneys largely exceeds the quantity synthesized by kidney gluconeogenesis. Sodium-glucose cotransporter type 2 (SGLT-2) and glucose transporter 2 (GLUT2) carry out more than 90% of renal glucose uptake...
December 2014: Diabetes & Metabolism
Enriko D Klootwijk, Markus Reichold, Robert J Unwin, Robert Kleta, Richard Warth, Detlef Bockenhauer
Renal Fanconi syndrome (RFS) refers to the generalized dysfunction of the proximal tubule (PT) (Kleta R. Fanconi or not Fanconi? Lowe syndrome revisited. Clin J Am Soc Nephrol 2008; 3: 1244-1245). In its isolated form, RFS only affects the PT, but not the other nephron segments. The study of isolated RFS can thus provide specific insights into the function of the PT. In a recent paper, Klootwijk et al. investigated one such form of isolated RFS and revealed the underlying molecular basis (Klootwijk ED, Reichold M, Helip-Wooley A et al...
September 2015: Nephrology, Dialysis, Transplantation
E Patricia Owen, Jenisha Nandhlal, Felicity Leisegang, George Van der Watt, Peter Nourse, Priya Gajjar
BACKGROUND: The mutations responsible for cystinosis in South African patients are currently unknown. A pertinent question is whether they are similar to those described elsewhere in the world. METHODS: Children who were being managed for cystinosis in the Western Cape Province of South Africa between 2002 and 2013 were studied. All underwent molecular analysis to detect sequence variations in the cystinosis gene. RESULTS: This cohort study included 20 patients, 13 of whom were Xhosa-speaking black South Africans and seven were Cape Coloureds (mixed race); none were Caucasian...
April 2015: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
No abstract text is available yet for this article.
March 1951: Annals of Eugenics
Dídac Mauricio
The therapeutic armamentarium for the treatment of hyperglycemia in type 2 diabetes mellitus is still inadequate. We are currently witnessing the introduction of a new mode of hypoglycemic treatment through induction of glycosuria to decrease the availability of the metabolic substrate, i.e. glucose. Clinical trials have shown that sodium-glucose co-transporter-2 (SGLT2) inhibitors are as efficacious as other oral hypoglycemic drugs. This article discusses the basic features of this new treatment concept and the efficacy and safety of this new drug group...
September 2013: Medicina Clínica
Hakan R Toka, Jun Yang, Chloe A Zera, Jeremy S Duffield, Martin R Pollak, David B Mount
A pregnant woman presented at gestational week 28 with loss of consciousness and profound polyuria. Further characterization revealed osmotic diuresis due to massive glycosuria without hyperglycemia. Glycosuria reduced substantially postpartum, from approximately 100 to approximately 30 g/1.73 m2 per day. DNA sequencing analysis of the SLC5A2 gene encoding the renal glucose transporter SGLT2 showed a homozygous frame-shift mutation (occurring after the glutamine at amino acid 168 and leading to premature termination of the protein at amino acid 186) diagnostic of familial renal glycosuria...
December 2013: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
A Rohfleisch, G Nseir, H Chehade, M Guidoux Noverraz, J-P Venetz, F Barbey
The occurrence of glucosuria in the absence of hyperglycemia is distinctive for renal glucosuria. SGLT2 mutations provoke familial renal glucosuria characterized by persistent glucosuria in the absence of any other renal tubular dysfunction. Renal glucosuria associated with others proximal tubular dysfunctions points to Fanconi syndrome. This generalized dysfunction of proximal tubule needs to be treated and may progress regarding its aetiology to chronic renal failure. The development and study of models of Fanconi syndrome has recently contributed to a better knowledge of the mechanisms implicated in the tubular transport of glucose and low-molecular-weight-proteins...
March 20, 2013: Revue Médicale Suisse
L H Chen, P S Leung
Sodium glucose co-transporter-2 (SGLT2) inhibitors are an emerging class of glucose-lowering drugs in the management of type 2 diabetes mellitus (T2DM). In this context, SGLT2 is a low-affinity, high-capacity transporter that is expressed predominantly in the proximal renal tubules. The rationale for using SGLT2 inhibition as a drug for T2DM is derived from early evidence obtained from individuals with familial renal glycosuria, due to a SGLT2 mutation, which exhibits decreased renal tubular reabsorption of glucose in the absence of hyperglycaemia or any other signs of dysfunction...
May 2013: Diabetes, Obesity & Metabolism
Ernest M Wright, Donald D F Loo, Bruce A Hirayama
There are two classes of glucose transporters involved in glucose homeostasis in the body, the facilitated transporters or uniporters (GLUTs) and the active transporters or symporters (SGLTs). The energy for active glucose transport is provided by the sodium gradient across the cell membrane, the Na(+) glucose cotransport hypothesis first proposed in 1960 by Crane. Since the cloning of SGLT1 in 1987, there have been advances in the genetics, molecular biology, biochemistry, biophysics, and structure of SGLTs...
April 2011: Physiological Reviews
Joaquim Calado, René Santer, José Rueff
Reabsorption of glucose in the proximal renal tubule involves the Na(+)-coupled glucose cotransporter (SGLT) and the facilitative glucose transport (GLUT) multigene glucose transport families. Mutations in SLC5A2, the SGLT2 coding gene, are responsible for familial renal glucosuria (FRG), a genetic disorder characterized by glucosuria in the absence of both hyperglycemia and generalized proximal tubular dysfunction. In this paper we focus on FRG and describe other inherited and acquired clinical conditions associated with glucosuria...
March 2011: Kidney International. Supplement
Lei Yu, Ji-Cheng Lv, Xu-jie Zhou, Li Zhu, Ping Hou, Hong Zhang
Familial renal glucosuria (FRG) is characterized by persistent glucosuria despite normal serum glucose and in the absence of overt tubular dysfunction. Mutation of sodium/glucose co-transporter 2 (SGLT2) has been identified and was recently reported to be involved in FRG. However, the functional and pathological consequences of such mutations remain unknown. In the current study, we collected four families with FRG. Sequencing of the SGLT2 coding region, intronic segments and cDNA revealed three missense mutations (294C>A: F98L; 1388T>G: L463R; 1435C>G: R479G) and two splice mutations (IVS 1-16 C>A: Del exon3; IVS 11+1 G>C: Del exon11)...
March 2011: Human Genetics
G Pérez López, O González Albarrán, M Cano Megías
For centuries, the kidney has been considered primarily an organ of elimination and a regulator of salt and ion balance. Although once thought that the kidney was the structural cause of diabetes, which in recent years has been ignored as a regulator of glucose homeostasis, is now recognized as a major player in the field of metabolic regulation carbohydrate. During fasting, 55% of the glucose comes from gluconeogenesis. Only 2 organs have this capability: the liver and kidney. The latter is responsible for 20% of total glucose production and 40% of that produced by gluconeogenesis...
2010: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
R Sabino-Silva, R C Mori, A David-Silva, M M Okamoto, H S Freitas, U F Machado
Glucose enters eukaryotic cells via two types of membrane-associated carrier proteins, the Na(+)/glucose cotransporters (SGLT) and the facilitative glucose transporters (GLUT). The SGLT family consists of six members. Among them, the SGLT1 and SGLT2 proteins, encoded by the solute carrier genes SLC5A1 and SLC5A2, respectively, are believed to be the most important ones and have been extensively explored in studies focusing on glucose fluxes under both physiological and pathological conditions. This review considers the regulation of the expression of the SGLT promoted by protein kinases and transcription factors, as well as the alterations determined by diets of different compositions and by pathologies such as diabetes...
November 2010: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
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