familial renal glucosuria
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).
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0006510
renal tubular transport disease
is_a
MONDO:0019226
glucose transport disorder
is_a
MONDO:0100191
inherited kidney disorder
is_a
GLYS
related
Renal Glycosuria
exact
SGLT2 deficiency
exact
familial renal glucosuria
exact
renal glucosuria
related
renal glycosuria
related