Familial renal glucosuria

Orpha code: 69076OMIM code: 233100

Definition

A rare, genetic, glucose transport disorder characterized by the presence of persistent isolated glucosuria in the absence of both proximal tubular dysfunction and hyperglycemia. The disorder is benign in the majority of cases although it may occasionally manifest with polyuria, enuresis, a mild growth and pubertal maturation delay, hypercalciuria, aminoaciduria and, in severe cases, increased incidence of urinary infections and episodic dehydration and ketosis during pregnancy and starvation.

Disease data
Classification

Disease

Synonyms
Familial renal glycosuria
Niedobór SGLT2
SGLT2 deficiency
ORPHA code
69076
OMIM code
233100
ICD10 code
E74.8
ICD11 code
5C61.5

No additional description.

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