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FREE COMMUNICATION 25


17:00-18:30   HALL G

Free Communication Session 25 + Mini Lecture

Genetics

Chairs: Francisco J. Arjona Madueño, Nijmegen, The Netherlands
             Francesco Paolo Schena, Bari, Italy

Mini lecture
Genetic testing in Steroid Resistant Nephrotic Syndrome
Moin Saleem, Bristol, United Kingdom

FREE COMMUNICATIONS

MO059
RISK FACTORS FOR SEVERE RENAL DISEASE IN BARDET-BIEDL SYNDROME - PHENOTYPIC
AND GENOTYPIC ANALYSES OF THE LARGEST REPORTED AFFECTED COHORT.
David J. A. Goldsmith1, Elizabeth Forsythe2, David Milford3, Detlef Bockenhauer4, Lukas Foggensteiner5, Phillip Beales6, 1Guy’s and St Thomas’ Hosps, Renal, London, UK, 2Univ College London, London, UK, Genomics and Genetic Medicine Unit, London, UK, 3Birmingham Children’s Hosp, Nephrology, Birmingham, UK, 4Great Ormond Street Hosp, Nephrology, London, UK, 5Queen Elizabeth 2 Hosp, Nephrology, Birmingham, UK, 6Univ College London, London, UK, Inst Child Heath, London, UK.

MO060
SHOULD WE CONSIDER ADPKD NEW TARGETED THERAPIES IN PKD2 PATIENTS ?
Emilie Cornec-Le Gall1, Marie-Pierre Audrézet2, Eric Renaudineau3, Maryvonne Hourmant4, Christophe Charasse5, Cécile Vigneau6, Hélène Longuet7, Frank Bridoux8, Lise Mandart9, Bassem Wehbe10, Pascale Depraêtre11, Genkyst Study Group, Claude Férec12, Yannick Le Meur1, 1CHU, Nephrology, Brest, FRANCE, 2CHU, Molecular Genetics, INSERM, Brest, FRANCE, 3CH, Nephrology, Saint-Malo, FRANCE, 4CHU, Nephrology, Nantes, FRANCE, 5CH, Nephrology, Saint Brieuc, FRANCE, 6CHU, Nephrology, Rennes, FRANCE, 7CHU, Nephrology, Tours, FRANCE, 8CHU, Nephrology, Poitiers, FRANCE, 9CH, Nephrology, Vannes, FRANCE, 10CH, Nephrology, Quimper, FRANCE, 11AUB, Nephrology, Brest, FRANCE, 12CHU, Molecular Genetics INSERM 1078, Brest, FRANCE.

MO061
POTENTIAL OF RAAS-BLOCKADE TO DELAY RENAL DISEASE IN PATIENTS WITH ALPORT SYNDROME:
A 4-YEAR PROSPECTIVE STUDY
Johanna Stock, Niklas Glonke, Joseph Sonntag, Johannes Kuenanz, Oliver Gross, Univ Medical Center Goettingen, Nephrology and Rheumatology, Goettingen, GERMANY.

MO062
RARE GENETIC VARIANTS IMPLICATED IN INNATE AND ADAPTIVE IMMUNITY CO-SEGREGATE
WITH FAMILIAL IGA NEPHROPATHY
Sharon N. Cox1, Francesco Pesce2, Julia S. El-Sayed Moustafa3,2, Fabio Sallustio1, Grazia Serino4, Annalisa Giampetruzzi5, Nicola Ancona6, Mario Falchi3,2, Francesco P. Schena7, 1Univ Bari, D.E.T.O, Bari, ITALY, 2Imperial College, Dept Genomics of Common Disease, London, UK, 3King’s College London, Dept Twin Research and Genetic Epidemiology, London, UK, 4IRCCS, Lab Experimental Immunopathology, Castellana Grotte, Bari, ITALY, 5CNR, IPSP, Bari, ITALY, 6CNR, ISSIA, Bari, ITALY, 7C.A.R.S.O. Consotium, Molecular Biology, Valenzano, Bari, ITALY.

MO063
WHOLE EXOME SEQUENCING IN DENT DISESE PATIENTS WITH NO DETECTABLE MUTATIONS
IN CLCN5 AND OCRL GENES
Liliana Terrin1, Loris Bertoldi2, Monica Ceol1, Maria Addis3, Lisa Gianesello4, Giovanna Priante1, Dorella Del Prete1, Giorgio Valle2, Franca Anglani1, 1Clinical Nephrology, Univ Padua, Dept Medicine
- DIMED, Padua, ITALY, 2Univ Padua, CRIBI, Padua, ITALY, 3Clinical and Molecular Medicine, Univ
Cagliari, Dept Public Health, Cagliari, ITALY, 4Div Nephrology, Dept Medicine - DIMED, Padua, ITALY.

 

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