Presentation
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. [ncbi.nlm.nih.gov]
There are two types of genetic disorders involving the Na+/glucose cotransporters (SGLTs): glucose-galactose malabsorption (GGM, OMIM 182380) and familial renal glycosuria (FRG, OMIM 233100), both involving a single gene mutation patients with GGM present [gpnotebook.co.uk]
Glycosuria is the term for glucose present in urine, in amounts that can be detected by the usual techniques. [patient.info]
Workup
Urine
- Glycosuria
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. [ncbi.nlm.nih.gov]
Microbiology
- Candida
One individual, who was compound heterozygous for mutations in the SLC5A2 gene suffered from severe urogenital candida infections and postprandial hypoglycemia. [ncbi.nlm.nih.gov]
Treatment
Though renal glycosuria is a benign condition, mistaken diagnosis for diabetes mellitus puts patients at risk of hypoglycaemia due to treatment. [ncbi.nlm.nih.gov]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
Treatment of hyperglycaemia: The unique mechanism of SGLT2 inhibitors means they can probably be used alongside other hypoglycaemic treatments. [revistanefrologia.com]
Treatment is directed at the underlying tubular disease condition. [doctor.ndtv.com]
No treatment needed Isolated renal glucosuria is benign; no treatment is necessary. Click here for Patient Education NOTE: This is the Professional Version. [merckmanuals.com]
Prognosis
Prognosis of benign renal glycosuria is excellent and reversible. Acute interstitial nephritis (AIN) is one of the main causes of acute renal failure and may often result in tubular dysfunction. [ncbi.nlm.nih.gov]
Primary renal glucosuria has been considered a ‘non-disease’ with an excellent prognosis. [doi.org]
Etiology
Our data provide the first direct evidence of an etiologic role for the sodium/glucose cotransporter type 2 in the pathogenesis of renal glucosuria. [doi.org]
Etiologically, renal glycosuria is of 3 types-benign renal glycosuria, glycosuria with diabetes mellitus (including gestational diabetes) and tubular defects (Fanconi syndrome). Prognosis of benign renal glycosuria is excellent and reversible. [ncbi.nlm.nih.gov]
Practically all categories in the chapter could be designated 'not otherwise specified', 'unknown etiology' or 'transient'. [icd10data.com]
Epidemiology
It gives compreensive coverage of the epidemiology, aetiology, and mechanism of disease, as well as clear, unambiguous coverage of the diagnosis, practical management and prevention of the entire spectrum of medical disorders. [books.google.de]
Pathophysiology
Pathophysiology Blood is filtered by millions of nephrons, the functional units that comprise the kidneys. In each nephron, blood flows from the arteriole into the glomerulus, a tuft of leaky capillaries. [dictionnaire.sensagent.leparisien.fr]
From basic science and pathophysiology to clinical best practices, Brenner & Rector’s The Kidney is your go-to resource for any stage of your career. [books.google.de]
Understanding the pathophysiology of type 2 diabetes is a dynamic process: When new pathophysiological concepts arise, new potential therapeutic tools are found. [revistanefrologia.com]
The authors discuss the possible pathophysiologic mechanisms of this association and the importance of studying other tubulopathies in a child with glycosuria as it has prognostic and clinical management implications. [revistas.rcaap.pt]
Prevention
Abstract Under physiological conditions, the kidneys contribute to glucose homoeostasis by producing glucose by gluconeogenesis and preventing glucose loss in urine. [ncbi.nlm.nih.gov]
You can’t prevent genetic conditions like renal glycosuria. But you can prevent glycosuria — and conditions like diabetes — through certain lifestyle choices. [healthline.com]
[…] sudden cardiac death - guidance (IPG603) Source: National Institute for Health and Care Excellence - NICE - 20 December 2017 Evidence-based recommendations on subcutaneous implantable cardioverter defibrillator insertion for preventing sudden cardiac [evidence.nhs.uk]
It gives compreensive coverage of the epidemiology, aetiology, and mechanism of disease, as well as clear, unambiguous coverage of the diagnosis, practical management and prevention of the entire spectrum of medical disorders. [books.google.de]