title: Pregnancy-associated polyuria in familial renal glycosuria.
abstract: 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.
authors.affiliation: Division of Nephrology, Beth Israel Deaconess Medical Center, Boston, MA; Division of Nephrology, Brigham and Women's Hospital, Boston, MA.
authors.forename: Hakan R
authors.initials: HR
authors.lastname: Toka
authors.forename: Jun
authors.initials: J
authors.lastname: Yang
authors.forename: Chloe A
authors.initials: CA
authors.lastname: Zera
authors.forename: Jeremy S
authors.initials: JS
authors.lastname: Duffield
authors.forename: Martin R
authors.initials: MR
authors.lastname: Pollak
authors.forename: David B
authors.initials: DB
authors.lastname: Mount
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics; D018149:Glucose Intolerance / Q000175:diagnosis / Q000235:genetics; D006030:Glycosuria, Renal / Q000175:diagnosis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007677:Kidney Function Tests; D011141:Polyuria / Q000235:genetics*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis / Q000235:genetics*; D011262:Pregnancy Trimester, Second; D017422:Sequence Analysis, DNA; D051297:Sodium-Glucose Transporter 2 / Q000235:genetics
chemical_list: C089180:SLC5A2 protein, human; D051297:Sodium-Glucose Transporter 2
keywords: Familial renal glycosuria; SGLT2, SCL5A2; natriuresis; polyuria; vasopressin