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Familial renal glucosuria

MONDO:0009297

Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2).

Also known as: Renal Glycosuria, SGLT2 deficiency, familial renal glucosuria, GLYS, Glys1, glycosuria, renal, renal glucosuria, renal glycosuria

35 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Kidney disorder (202) Hereditary disease (172) Urinary system disorder (62) Inborn errors of metabolism (42) Human disease (14) Carbohydrate metabolism disease (3) Disease of genetic or genomic mechanism (2) Inborn carbohydrate metabolic disorder (2)
Trials to join now! 18 Not yet recruiting 5 Not yet finished but already full! 6 Completed 6
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