Affiliation: Faculty of Medical Sciences
- Effect of kidney disease on glucose handling (including genetic defects)Joaquim Calado
1 Department of Genetics, Faculty of Medical Sciences, New University of Lisbon, Lisbon, Portugal 2 Department of Nephrology, Curry Cabral Hospital, Lisbon, Portugal
Kidney Int 79:S7-S13. 2011..In this paper we focus on FRG and describe other inherited and acquired clinical conditions associated with glucosuria. In addition, a brief review on the regulation of renal glucose transport in diabetes is provided...
- Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuriaJoaquim Calado
Department of Genetics, Faculty of Medical Sciences, New University of Lisbon, Rua da Junqueira 96, 1349 008 Lisbon, Portugal
Hum Genet 114:314-6. 2004..N654S mutation involving a highly conserved residue. These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria...
- Gene Symbol: SLC55A2. Disease: familial renal glucosuriaJ Calado
Instituto de Higiene e Medicina Tropical, Universidade Nova de Lisboa, Lisbon, Portugal
Hum Genet 115:170. 2004
- A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic NephropathyJoaquim Calado
Department of Genetics, Faculty of Medical Sciences, New University of Lisbon, Lisbon, Portugal
BMC Med Genet 6:5. 2005..Mutations in the uromodulin coding UMOD gene have been found responsible for the disease in some families...
- Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wastingJ Calado
Department of Genetics, Faculty of Medical Sciences, New University of Lisbon, Rua da Junquiera no 96, 1349 008 Lisbon, Portugal
Kidney Int 69:852-5. 2006..Definite proof of renin-angiotensin aldosterone system activation in FGR should rely on evaluation of additional patients with massive glucosuria...
- Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletionJoaquim Calado
Departamento de Genética da Faculdade de Ciências Médicas, Instituto de Higiene e Medicina Tropical, Universidade Nova de Lisboa, Lisbon, Portugal
Nephrol Dial Transplant 23:3874-9. 2008..We have now extended this analysis to another 21 consecutive cases from 17 pedigrees, including 11 cases with severe glucose excretion...
- Dapagliflozin, an oral sodium glucose cotransporter type 2 inhibitor for the treatment of type 2 diabetes mellitusJoaquim Calado
New University of Lisbon, Department of Genetics, Faculty of Medical Sciences, Rua da Junqueira no 96, Lisbon, 1349 008, Portugal
IDrugs 12:785-98. 2009..The major adverse effect associated with dapagliflozin appears to be an increased occurrence of mycotic genital infections...
- Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic targetRene Santer
Department of Genetics, Faculty of Medical Sciences, Institute of Hygiene and Tropical Medicine, Universidade Nova de Lisboa, Rua da Junqueira no 96, 1349 008, Lisbon, Portugal
Clin J Am Soc Nephrol 5:133-41. 2010..This review provides an overview of renal glucose transport physiology, FRG and its clinical course, and the potential of SGLT2 inhibition as a therapeutic target in type 2 diabetes...
- Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSNDSandra Brum
Nephrol Dial Transplant 22:288-9. 2007