Disease name

신 글루코스뇨
 Renal glucosuria

Marker gene

Gene symbol Chromosome location Protein name
SLC5A2 16p12-p11.2 Sodium/glucose cotransporter 2
SLC16A12 10q23.32 Monocarboxylate transporter 12

Prevalence

미상

Inheritance

상염색체 열성

Age of onset

다양함

ICD 10 code

E74.8

MIM number

233100

Synonym

Familial renal glucosuria
SGLT2 deficiency

Summary

Renal glucosuria (RG) is a rare autosomal recessive condition characterized by renal glucose wasting in the absence of hyperclycemia or other forms of tubular dysfunction. The prevalence is unknown. It is caused by mutations in the SLC5A2 gene encoding the sodium/glucose cotransporter type 2 (SGLT2). RG is a benign condition with no symptoms or serious consequences, and does not require a specific therapy.