Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Familial renal glycosuria identified in an Indian family.

BMJ case reports - 10 Sept 2024

Sivaji Vaishnavi, Raju Prasanna, Marimuthu Soundarrajan, Sundar Subash

Abstract excerpt

Glycosuria can be isolated or it can be associated with other tubulopathies like proximal renal tubular acidosis, Fanconi syndrome and endocrine conditions like diabetes mellitus. The SLC5A2 gene codes for the SGLT2 transporter, which is responsible for glucose reabsorption in the proximal tubule. Previously reported cases show that mutation in this gene is associated with intellectual disability, seizure...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Pedigree
Share to Child, Preschool
Share to India

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Identifiers

PMID: 39256173
DOI: 10.1136/bcr-2023-258408

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial renal glycosuria identified in an Indian family.PMID 39256173Read ↗

Familial renal glucosuria: a clinicogenetic study of 23 additional cases.Semantic proximity Read ↗

Persistently high urine glucose levels caused by familial renal glycosuria.Semantic proximity Read ↗

A young-onset type 2 diabetic Chinese girl with familial renal glycosuria caused by a novel mutation in SLC5A2: A case report.Semantic proximity Read ↗

Familial renal glycosuria and modifications of glucose renal excretion.Semantic proximity Read ↗

Genetic analysis and literature review of Chinese patients with familial renal glucosuria: Identification of a novel SLC5A2 mutation.Semantic proximity Read ↗

Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time.Semantic proximity Read ↗

A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria.Semantic proximity Read ↗

SLC5A2 mutations, including two novel mutations, responsible for renal glucosuria in Chinese families.Semantic proximity Read ↗

Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting.Semantic proximity Read ↗

Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.Semantic proximity Read ↗

A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria.Semantic proximity Read ↗

Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.