Pregnancy-associated polyuria in familial renal glycosuria.

A pregnant woman presented at gestational week 28 with loss of consciousness and profound polyuria. Further characterization revealed osmotic diuresis due to massive glycosuria without hyperglycemia. Glycosuria reduced substantially postpartum, from approximately 100 to approximately 30 g/1.73 m2 per day. DNA sequencing analysis of the SLC5A2 gene encoding the renal glucose transporter SGLT2 showed a homozygous frame-shift mutation (occurring after the glutamine at amino acid 168 and leading to premature termination of the protein at amino acid 186) diagnostic of familial renal glycosuria. Pregnant women with familial renal glycosuria can be at risk of profound polyuria during pregnancy due to the associated increase in glycosuria. These findings also have implications for the use of SGLT2 inhibitors in clinical practice.

[1]  H. Koepsell,et al.  Expression of Na+-D-glucose cotransporter SGLT2 in rodents is kidney-specific and exhibits sex and species differences. , 2012, American journal of physiology. Cell physiology.

[2]  D. Loo,et al.  Structural selectivity of human SGLT inhibitors. , 2012, American journal of physiology. Cell physiology.

[3]  H. Koepsell,et al.  SGLT2 mediates glucose reabsorption in the early proximal tubule , 2010, Journal of the American Society of Nephrology : JASN.

[4]  P. Norwood,et al.  A Study of Dapagliflozin in Patients With Type 2 Diabetes Receiving High Doses of Insulin Plus Insulin Sensitizers , 2009, Diabetes Care.

[5]  M. Pfister,et al.  Dapagliflozin, a Novel, Selective SGLT2 Inhibitor, Improved Glycemic Control Over 2 Weeks in Patients With Type 2 Diabetes Mellitus , 2009, Clinical pharmacology and therapeutics.

[6]  M. Fejgin,et al.  Gestational diabetes insipidus and intrauterine fetal death of monochorionic twins , 2008, Journal of Perinatology.

[7]  T. Berl.  Impact of solute intake on urine flow and water excretion. , 2008, Journal of the American Society of Nephrology : JASN.

[8]  H. Koepsell,et al.  Rat renal glucose transporter SGLT1 exhibits zonal distribution and androgen-dependent gender differences. , 2006, American journal of physiology. Renal physiology.

[9]  L. Bankir,et al.  Vasopressin-V2 receptor stimulation reduces sodium excretion in healthy humans. , 2005, Journal of the American Society of Nephrology : JASN.

[10]  E. Seely,et al.  The Renin-Aldosterone Response to Stimulation and Suppression During Normal Pregnancy , 2005, Hypertension in pregnancy.

[11]  W. Henrich,et al.  The usefulness of glycosuria and the influence of maternal blood pressure in screening for gestational diabetes. , 2004, European journal of obstetrics, gynecology, and reproductive biology.

[12]  L. P. Van den Heuvel,et al.  Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2) , 2002, Human Genetics.

[13]  M. Ito,et al.  Placental leucine aminopeptidase/oxytocinase in maternal serum and placenta during normal pregnancy. , 2000, Life sciences.

[14]  L. Bankir,et al.  Vasopressin and urinary concentrating activity in diabetes mellitus. , 1999, Diabetes & metabolism.

[15]  J. V. D. van der Post,et al.  Radioimmunoassay of vasopressin during pregnancy. Use and removal of cystylaminopeptidase inhibitors. , 1994, Clinica chimica acta; international journal of clinical chemistry.

[16]  J. Davison,et al.  Serial evaluation of vasopressin release and thirst in human pregnancy. Role of human chorionic gonadotrophin in the osmoregulatory changes of gestation. , 1988, The Journal of clinical investigation.

[17]  R. Schrier,et al.  Diabetes insipidus in pregnancy associated with abnormally high circulating vasopressinase activity. , 1987, The New England journal of medicine.

[18]  H. Drexel,et al.  Kinetics of glucose handling in renal glucosuria during pregnancy , 1980, Klinische Wochenschrift.

[19]  F E Hytten,et al.  THE EFFECT OF PREGNANCY ON THE RENAL HANDLING OF GLUCOSE , 1975, British journal of obstetrics and gynaecology.

[20]  H. Zarowitz,et al.  Renal glycosuria in normoglycemic glycosuric pregnancy: A quantitative study , 1973 .

[21]  F. Hytten,et al.  THE AMINOACIDURIA OF PREGNANCY , 1972, The Journal of obstetrics and gynaecology of the British Commonwealth.

[22]  D. Loo,et al.  Glucose transport by human renal Na+/D-glucose cotransporters SGLT1 and SGLT2. , 2011, American journal of physiology. Cell physiology.

[23]  R. Santer,et al.  Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target. , 2010, Clinical journal of the American Society of Nephrology : CJASN.

[24]  E. Sprecher,et al.  A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria. , 2005, Kidney international.

[25]  M. Martínez-Maldonado,et al.  Fluid and Electrolyte Disturbances , 1983 .

[26]  C. L. Lassen,et al.  J Am Soc Nephrol 14: 2873–2882, 2003 Molecular Analysis of the SGLT2 Gene in Patients with Renal , 2022 .