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Pregnancy-associated polyuria in familial renal glycosuria.
- Source :
-
American journal of kidney diseases : the official journal of the National Kidney Foundation [Am J Kidney Dis] 2013 Dec; Vol. 62 (6), pp. 1160-4. Date of Electronic Publication: 2013 Jul 18. - Publication Year :
- 2013
-
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.<br /> (Published by Elsevier Inc.)
- Subjects :
- Adult
Diagnosis, Differential
Female
Frameshift Mutation genetics
Glucose Intolerance diagnosis
Glucose Intolerance genetics
Glycosuria, Renal diagnosis
Homozygote
Humans
Kidney Function Tests
Pregnancy
Pregnancy Complications diagnosis
Pregnancy Trimester, Second
Sequence Analysis, DNA
Sodium-Glucose Transporter 2 genetics
Glycosuria, Renal genetics
Polyuria genetics
Pregnancy Complications genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1523-6838
- Volume :
- 62
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- American journal of kidney diseases : the official journal of the National Kidney Foundation
- Publication Type :
- Academic Journal
- Accession number :
- 23871407
- Full Text :
- https://doi.org/10.1053/j.ajkd.2013.05.018