Which physical findings are characteristic of renal glucosuria?

Updated: Dec 10, 2018
  • Author: Rajendra Bhimma, MBChB, MD, PhD, DCH (SA), FCP(Paeds)(SA), MMed(Natal); Chief Editor: Craig B Langman, MD  more...
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Answer

No physical examination findings are relevant to renal glucosuria, unless associated with a secondary cause (eg, Fanconi syndrome, diabetes mellitus). Thus, FRG is considered a benign condition, more a phenotype than a disease.

In one patient with FRG polyuria, enuresis and later a mild growth and pubertal maturational delay were reported. Other findings reported in severe FRG include episodic dehydration and ketosis during pregnancy and starvation, [27] the presence of autoantibodies with evidence of autoimmune disease, [28] and increased incidence of urinary tract infections. [28] Activation of the renin-angiotensin-aldosterone system, secondary to natriuresis and possible extracellular volume depletion, has been seen. Hypercalcemia was identified in 5 of 7 male children, although the reason for this finding remains elusive. Several reports have described selective aminoaciduria, which has been postulated to be secondary to glucosuria and not a primary effect of SGLT2 mutation. [29, 30, 31] The proposed mechanism is that glucosuria is causing a depolarization and dissipation of the electric gradient of sodium-dependent amino acid transporters in the proximal renal tubule.

In cases associated with tubular disorders, signs or symptoms may include hypophosphatemic rickets, dehydration, short stature, muscle hypotonia, or ocular changes of cataracts or glaucoma (Lowe syndrome), or Kayser-Fleischer ring (Wilson disease).


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