Hypouricaemia and hyperuricosuria in familial renal glucosuria

Autor: Jorge Pratas, Inês Aires, Joaquim Calado, Fernando Nolasco, Ana Rita Santos
Přispěvatelé: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
Jazyk: angličtina
Rok vydání: 2013
Předmět:
endocrine system diseases
creatinine blood level
Gene mutation
SGLT2
gene mutation
Hypouricemia
glucose
gestational age
familial renal glucosuria
hyperuricosuria
cystine
Kidney
Clinical Report
Reabsorption
adult
creatinine
article
sodium glucose cotransporter 2
medicine.anatomical_structure
female
hypouricemia
priority journal
Nephrology
kidney tubule absorption
Sodium/Glucose Cotransporter 2
disease severity
medicine.symptom
uric acid blood level
Glycosuria
medicine.medical_specialty
kidney
urinary excretion
kidney proximal tubule
incidental finding
uric acid
SDG 3 - Good Health and Well-being
Internal medicine
medicine
case report
follow up
human
Transplantation
glucose urine level
business.industry
nutritional and metabolic diseases
renal diabetes
medicine.disease
Hyperuricosuria
Endocrinology
Clinical Cases
Renal glycosuria
urate
homozygosity
business
Zdroj: Clinical Kidney Journal
DOI: 10.1093/ckj/sft100&partnerID=40&md5=0b0b1a0fe6a32dd02e0bd4ca5afcbc60
Popis: Familial renal glucosuria is a rare co-dominantly inherited benign phenotype characterized by the presence of glucose in the urine. It is caused by mutations in the SLC5A2 gene that encodes SGLT2, the Na+-glucose cotransporter responsible for the reabsorption of the bulk of glucose in the proximal tubule. We report a case of FRG displaying both severe glucosuria and renal hypouricaemia. We hypothesize that glucosuria can disrupt urate reabsorption in the proximal tubule, directly causing hyperuricosuria. © 2013 © The Author 2013. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For permissions, please email: journals.permissions@oup.com. publishersversion published
Databáze: OpenAIRE
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