User menu

ANCA vasculitis in a patient with Alport syndrome: a difficult diagnosis but a treatable disease!

Bibliographic reference Gillion, Valentine ; Jadoul, Michel ; Aydin, Selda ; Godefroid, Nathalie. ANCA vasculitis in a patient with Alport syndrome: a difficult diagnosis but a treatable disease!. In: BMC Nephrology, Vol. 18, no.1 (2017)
Permanent URL http://hdl.handle.net/2078.1/183897
  1. Pirson Yves, Making the diagnosis of Alport's syndrome, 10.1046/j.1523-1755.1999.00601.x
  2. Van Der Loop Frank T.L., Heidet Laurence, Timmer Erika D.J., Van Den Bosch Bianca J.C., Leinonen Anu, Antignac Corinne, Jefferson J. Ashley, Maxwell A. Peter, Monnens Leo A.H., Schröder Cornelis H., Smeets Hubert J.M., Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation, 10.1111/j.1523-1755.2000.00358.x
  3. Marcocci Elena, Uliana Vera, Bruttini Mirella, Artuso Rosangela, Silengo Margherita Cirillo, Zerial Marlenka, Bergesio Franco, Amoroso Antonio, Savoldi Silvana, Pennesi Marco, Giachino Daniela, Rombolà Giuseppe, Fogazzi Giovanni Battista, Rosatelli Cristina, Martinhago Ciro Dresch, Carmellini Mario, Mancini Roberta, Di Costanzo Giuseppina, Longo Ilaria, Renieri Alessandra, Mari Francesca, Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome, 10.1093/ndt/gfn681
  4. Nabais Sá M.J., Storey H., Flinter F., Nagel M., Sampaio S., Castro R., Araújo J.A., Gaspar M.A., Soares C., Oliveira A., Henriques A.C., da Costa A.G., Abreu C.P., Ponce P., Alves R., Pinho L., Silva S.E., de Moura C.P., Mendonça L., Carvalho F., Pestana M., Alves S., Carvalho F., Oliveira J.P., Collagen type IV-related nephropathies in Portugal: pathogenicCOL4A3andCOL4A4mutations and clinical characterization of 25 families : Collagen type IV-related nephropathies in Portugal, 10.1111/cge.12521
  5. Moriniere V., Dahan K., Hilbert P., Lison M., Lebbah S., Topa A., Bole-Feysot C., Pruvost S., Nitschke P., Plaisier E., Knebelmann B., Macher M.-A., Noel L.-H., Gubler M.-C., Antignac C., Heidet L., Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing, 10.1681/asn.2013080912
  6. Fallerini C., Dosa L., Tita R., Del Prete D., Feriozzi S., Gai G., Clementi M., La Manna A., Miglietti N., Mancini R., Mandrile G., Ghiggeri G.M., Piaggio G., Brancati F., Diano L., Frate E., Pinciaroli A.R., Giani M., Castorina P., Bresin E., Giachino D., De Marchi M., Mari F., Bruttini M., Renieri A., Ariani F., Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases : Existence of autosomal dominant Alport syndrome in a relevant fraction of cases, 10.1111/cge.12258
  7. Cheong Hae Il, Cho Hee Yeon, Moon Kyung Chul, Ha Il Soo, Choi Yong, Pattern of double glomerulopathy in children, 10.1007/s00467-006-0342-9
  8. Kashtan Clifford E., Renal transplantation in patients with Alport syndrome, 10.1111/j.1399-3046.2006.00528.x
  9. Mallett A., Tang W., Clayton P. A., Stevenson S., McDonald S. P., Hawley C. M., Badve S. V., Boudville N., Brown F. G., Campbell S. B., Johnson D. W., End-stage kidney disease due to Alport syndrome: outcomes in 296 consecutive Australia and New Zealand Dialysis and Transplant Registry cases, 10.1093/ndt/gfu254
  10. Hudson Billy G., Tryggvason Karl, Sundaramoorthy Munirathinam, Neilson Eric G., Alport's Syndrome, Goodpasture's Syndrome, and Type IV Collagen, 10.1056/nejmra022296
  11. Persikov Anton V., Pillitteri Rian J., Amin Priyal, Schwarze Ulrike, Byers Peter H., Brodsky Barbara, Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders, 10.1002/humu.20091
  12. Heeg Jan E., de Jong Paul E., van der Hem Gjalt K., de Zeeuw Dick, Efficacy and variability of the antiproteinuric effect of ACE inhibition by lisinopril, 10.1038/ki.1989.190
  13. Buter H, The blunting of the antiproteinuric efficacy of ACE inhibition by high sodium intake can be restored by hydrochlorothiazide, 10.1093/ndt/13.7.1682
  14. Beaudreuil Séverine, Lasfargues Gérard, Lauériere Laurence, Ghoul Zen El, Fourquet Florence, Longuet Cédric, Halimi Jean-Michel, Nivet Hubert, Büchler Matthias, Occupational exposure in ANCA-positive patients: A case-control study, 10.1111/j.1523-1755.2005.00295.x
  15. Levy Micheline, Feingold Josué, Estimating prevalence in single-gene kidney diseases progressing to renal failure, 10.1046/j.1523-1755.2000.00250.x
  16. Cotch Mary Frances, Hoffman Gary S., Yerg Diane E., Kaufman Gerald I., Targonski Paul, Kaslow Richard A., The epidemiology of Wegener's granulomatosis. Estimates of the five-year period prevalence, annual mortality, and geographic disease distribution from population-based data sources, 10.1002/art.1780390112
  17. Lyons Paul A., Rayner Tim F., Trivedi Sapna, Holle Julia U., Watts Richard A., Jayne David R.W., Baslund Bo, Brenchley Paul, Bruchfeld Annette, Chaudhry Afzal N., Cohen Tervaert Jan Willem, Deloukas Panos, Feighery Conleth, Gross Wolfgang L., Guillevin Loic, Gunnarsson Iva, Harper Lorraine, Hrušková Zdenka, Little Mark A., Martorana Davide, Neumann Thomas, Ohlsson Sophie, Padmanabhan Sandosh, Pusey Charles D., Salama Alan D., Sanders Jan-Stephan F., Savage Caroline O., Segelmark Mårten, Stegeman Coen A., Tesař Vladimir, Vaglio Augusto, Wieczorek Stefan, Wilde Benjamin, Zwerina Jochen, Rees Andrew J., Clayton David G., Smith Kenneth G.C., Genetically Distinct Subsets within ANCA-Associated Vasculitis, 10.1056/nejmoa1108735
  18. Alberici F, Martorana D, Vaglio A. Genetic aspects of anti-neutrophil cytoplasmic antibody-associated vasculitis. Nephrol Dial Transplant. 2015;30 Suppl 1:i37–45.
  19. Redelmeier Donald A., The Cognitive Psychology of Missed Diagnoses, 10.7326/0003-4819-142-2-200501180-00010