Renal Glucosuria Clinical Presentation

  • Author: Rajendra Bhimma, MB, ChB, MD, DCH (SA), FCP (Paeds)(SA), MMed (Natal); Chief Editor: Craig B Langman, MD   more...
 
Updated: Aug 19, 2011
 

History

Medical history offers no clues for either primary or benign renal glucosuria. In cases associated with combined tubular defects or hyperglycemia (ie, diabetes mellitus), history is specific to the disease or syndrome.

Renal glucosuria is first noted on routine urinalysis. In cases of glucosuria associated with tubular disorders, a history of growth failure, polyuria, polydipsia, or dehydration may be noted.

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Physical

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,[15] the presence of autoantibodies with evidence of autoimmune disease,[16] and increased incidence of urinary tract infections.[16] Hypercalcemia was indentified 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.[17, 18, 19]

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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Causes

The renal abnormality is specific to glucose and not other monosaccharides. The inheritance pattern is autosomal recessive, although autosomal dominance has been reported. Glucosuria can be divided into 3 clinical scenarios, as follows:

  • Benign glucosuria: This condition has 3 variations and is generally discovered on routine urinalysis.
    • Type A is so-called classic glucosuria, with reduction in both renal glucose threshold and maximal glucose reabsorption rate.
    • In type B, a reduction in the glucose threshold, a normal reabsorptive rate, and an increased splay are observed.
    • Type O is defined by the complete absence of glucose reabsorption. Plasma glucose concentration, glucose tolerance testing, serum insulin concentrations, and glycosylated hemoglobin concentrations are normal. Other renal tubular abnormalities are absent. However, families with glucosuria and uricosuria in absence of other aspects of renal tubular dysfunction have been reported
  • FRG: The characterization of FRG into types A/B/O is surpassed by genotype-phenotype correlations in the vast majority of cases.[20] However, this is a difficult task because of the variable expressivity and because other genes may have an impact on overall renal glucose reabsorption. In general, patients with nonsense and missense mutations that are heterozygous for SGLT2 usually have mild glucosuria (< 10 g/1.73 m2/d). However, this does not occur in all carriers of such mutations because cases of severe glucosuria (>10 g/1.73 m2/d) with characteristic autosomal recessive inheritance with homozygosity or compound heterozygosity have been reported.[20, 11]
  • Glucosuria with diabetes mellitus and pregnancy-induced diabetes mellitus: Obviously, patients have elevated plasma glucose concentration, abnormal glucose tolerance testing, and increased glycosylated hemoglobin concentrations.
  • Tubular dysfunction (Fanconi syndrome): This includes a large number of disorders characterized by presence of phosphaturia, bicarbonaturia, aminoaciduria, polyuria, renal tubular acidosis, growth failure, and rickets. Idiopathic, inherited, or acquired forms are observed. Therapy is directed to the tubular abnormality and disease state.
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Contributor Information and Disclosures
Author

Rajendra Bhimma, MB, ChB, MD, DCH (SA), FCP (Paeds)(SA), MMed (Natal)  Associate Professor of Pediatrics, Principal Specialist, Department of Pediatrics and Child Health, Nelson R Mandela School of Medicine, University of KwaZulu-Natal, South Africa

Rajendra Bhimma, MB, ChB, MD, DCH (SA), FCP (Paeds)(SA), MMed (Natal) is a member of the following medical societies: American Association for the Advancement of Science, International Pediatric Transplant Association, International Society of Nephrology, South African Medical Association, South African Paediatric Association, and South African Transplant Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Laurence Finberg, MD  Clinical Professor, Department of Pediatrics, University of California, San Francisco, School of Medicine and Stanford University School of Medicine

Laurence Finberg, MD is a member of the following medical societies: American Medical Association

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Luther Travis, MD  Professor Emeritus, Departments of Pediatrics, Nephrology and Diabetes, University of Texas Medical Branch School of Medicine

Luther Travis, MD is a member of the following medical societies: Alpha Omega Alpha, American Federation for Medical Research, International Society of Nephrology, and Texas Pediatric Society

Disclosure: Nothing to disclose.

Howard Trachtman, MD  Program Director, Pediatrics Research, Schneider Children's Hospital, Department of Pediatrics, Division of Nephrology, Professor, Albert Einstein College of Medicine

Howard Trachtman, MD is a member of the following medical societies: American Society of Hypertension, American Society of Nephrology, American Society of Pediatric Nephrology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Craig B Langman, MD  The Isaac A Abt, MD, Professor of Kidney Diseases, Northwestern University, The Feinberg School of Medicine; Division Head of Kidney Diseases, Children's Memorial Hospital

Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, and International Society of Nephrology

Disclosure: Merck Grant/research funds None; NIH Grant/research funds None; Raptor Pharmaceuticals, Inc Grant/research funds None; Alexion Pharmaceuticals, Inc. Grant/research funds None

Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author, Leonard G Feld, MD, PhD, to the development and writing of this article.

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