Judy Savige

Summary

Affiliation: University of Melbourne
Country: Australia

Publications

  1. ncbi request reprint Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy
    Judy Savige
    Department of Medicine Northern Health, University of Melbourne, Melbourne, Australia
    J Am Soc Nephrol 24:364-75. 2013
  2. pmc NPHS2 variation in focal and segmental glomerulosclerosis
    Stephen J Tonna
    Renal Division, Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts, USA
    BMC Nephrol 9:13. 2008
  3. ncbi request reprint What do antineutrophil cytoplasmic antibodies (ANCA) tell us?
    Judy Savige
    Department of Medicine, The Northern Hospital, Austin Health Northern Health, University of Melbourne, Epping, VIC 3076, Australia
    Best Pract Res Clin Rheumatol 19:263-76. 2005
  4. ncbi request reprint Gene symbol: COl4A5. Disease: Alport Syndrome
    Judy Savige
    University of Melbourne, Medicine, Northern Hospital, 185 Cooper Street, Epping, 3076 Melbourne, Vic, Australia
    Hum Genet 124:302. 2008
  5. ncbi request reprint Gene symbol: COL4A5. Disease: Alport Syndrome
    Judy Savige
    University of Melbourne, Department of Medicine, Northern Hospital, 185 Cooper Street, Epping, 3076 Melbourne, Vic, Australia
    Hum Genet 124:301. 2008
  6. ncbi request reprint Gene symbol: COl4A5. Disease: Alport Syndrome
    Judy Savige
    University of Melbourne, Medicine, Northern Hopital, 185 Cooper Street, Epping, 3076 Melbourne, Vic, Australia
    Hum Genet 124:301-2. 2008
  7. doi request reprint Opinion: Ocular features aid the diagnosis of Alport syndrome
    Judy Savige
    The University of Melbourne Department of Medicine Northern Health, The Northern Hospital, Epping, Vic, Australia
    Nat Rev Nephrol 5:356-60. 2009
  8. pmc Retinal basement membrane abnormalities and the retinopathy of Alport syndrome
    Judy Savige
    Department of Medicine Northern Health, University of Melbourne, Melbourne, Vic, Australia
    Invest Ophthalmol Vis Sci 51:1621-7. 2010
  9. doi request reprint Retinal abnormalities characteristic of inherited renal disease
    Judy Savige
    Department of Medicine, Northern Health, The University of Melbourne, The Northern Hospital, Epping, Victoria 3076, Australia
    J Am Soc Nephrol 22:1403-15. 2011
  10. ncbi request reprint Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases
    Kesha Rana
    Department of Medicine AH NH, The Northern Hospital, University of Melbourne, Epping, Vic, 3076, Australia
    Pediatr Nephrol 22:652-7. 2007

Collaborators

Detail Information

Publications52

  1. ncbi request reprint Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy
    Judy Savige
    Department of Medicine Northern Health, University of Melbourne, Melbourne, Australia
    J Am Soc Nephrol 24:364-75. 2013
    ..The authors recognize that as evidence emerges, including data from patient registries, these guidelines will evolve further...
  2. pmc NPHS2 variation in focal and segmental glomerulosclerosis
    Stephen J Tonna
    Renal Division, Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts, USA
    BMC Nephrol 9:13. 2008
    ..Homozygous or compound heterozygous mutations in the podocin gene NPHS2 are found in 10-30% of pediatric cases of steroid resistant nephrosis and/or FSGS...
  3. ncbi request reprint What do antineutrophil cytoplasmic antibodies (ANCA) tell us?
    Judy Savige
    Department of Medicine, The Northern Hospital, Austin Health Northern Health, University of Melbourne, Epping, VIC 3076, Australia
    Best Pract Res Clin Rheumatol 19:263-76. 2005
    ..This chapter discusses the various forms of vasculitis associated with ANCA, the usefulness of each of the ANCA assays and how ANCA testing can be used in the management of patients with small-vessel vasculitis...
  4. ncbi request reprint Gene symbol: COl4A5. Disease: Alport Syndrome
    Judy Savige
    University of Melbourne, Medicine, Northern Hospital, 185 Cooper Street, Epping, 3076 Melbourne, Vic, Australia
    Hum Genet 124:302. 2008
  5. ncbi request reprint Gene symbol: COL4A5. Disease: Alport Syndrome
    Judy Savige
    University of Melbourne, Department of Medicine, Northern Hospital, 185 Cooper Street, Epping, 3076 Melbourne, Vic, Australia
    Hum Genet 124:301. 2008
  6. ncbi request reprint Gene symbol: COl4A5. Disease: Alport Syndrome
    Judy Savige
    University of Melbourne, Medicine, Northern Hopital, 185 Cooper Street, Epping, 3076 Melbourne, Vic, Australia
    Hum Genet 124:301-2. 2008
  7. doi request reprint Opinion: Ocular features aid the diagnosis of Alport syndrome
    Judy Savige
    The University of Melbourne Department of Medicine Northern Health, The Northern Hospital, Epping, Vic, Australia
    Nat Rev Nephrol 5:356-60. 2009
    ..The assistance of an interested ophthalmologist is invaluable in the diagnosis of Alport syndrome...
  8. pmc Retinal basement membrane abnormalities and the retinopathy of Alport syndrome
    Judy Savige
    Department of Medicine Northern Health, University of Melbourne, Melbourne, Vic, Australia
    Invest Ophthalmol Vis Sci 51:1621-7. 2010
    ..To determine the effects of X-linked and autosomal recessive Alport syndrome on retinal basement membranes and how these result in the characteristic perimacular dot-and-fleck retinopathy, lozenge, and macular hole...
  9. doi request reprint Retinal abnormalities characteristic of inherited renal disease
    Judy Savige
    Department of Medicine, Northern Health, The University of Melbourne, The Northern Hospital, Epping, Victoria 3076, Australia
    J Am Soc Nephrol 22:1403-15. 2011
    ..Furthermore, retinal abnormalities may help explain the pathogenesis of the renal disease, and can sometimes be used to monitor its course...
  10. ncbi request reprint Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases
    Kesha Rana
    Department of Medicine AH NH, The Northern Hospital, University of Melbourne, Epping, Vic, 3076, Australia
    Pediatr Nephrol 22:652-7. 2007
    ..The identification of polymorphisms in these genes is particularly important to enable diagnostic laboratories to distinguish mutations from uncommon normal variants...
  11. ncbi request reprint Persistent familial hematuria in children and the locus for thin basement membrane nephropathy
    Kesha Rana
    University of Melbourne, Department of Medicine, Austin Health Northern Health, Melbourne, Australia
    Pediatr Nephrol 20:1729-37. 2005
    ..This study also highlights the risk of excluding X-linked Alport syndrome on the basis of the absence of a family history or of kidney failure...
  12. ncbi request reprint Electrocardiograph changes, troponin levels and cardiac complications after orthopaedic surgery
    Carol P Chong
    Department of Aged Care, The Northern Hospital, Epping, Victoria, Australia
    Ann Acad Med Singapore 42:24-32. 2013
    ..The aim of this study was to determine the correlation between ECG changes (ischaemia or arrhythmia), troponin elevations perioperatively and cardiac complications...
  13. doi request reprint N-terminal pro-brain natriuretic peptide and angiotensin-converting enzyme-2 levels and their association with postoperative cardiac complications after emergency orthopedic surgery
    Carol P Chong
    Department of Aged Care, The Northern Hospital, Epping, Victoria, Australia
    Am J Cardiol 109:1365-73. 2012
    ..In conclusion, elevated perioperative NT-proBNP predicted in-hospital and 1-year cardiac events in an emergency orthopedic population but the ACE-2 levels did not, which requires additional study for validation...
  14. doi request reprint Does cardiology intervention improve mortality for post-operative troponin elevations after emergency orthopaedic-geriatric surgery? A randomised controlled study
    Carol P Chong
    Department of Aged Care, The Northern Hospital, Epping, Victoria, Australia
    Injury 43:1193-8. 2012
    ..The objective was to determine if comprehensive cardiology care after emergency orthopaedic surgery reduces mortality at one year in patients who sustain a post-operative troponin elevation versus standard care...
  15. ncbi request reprint Mutations in the COL4A4 gene in thin basement membrane disease
    Mark Buzza
    University of Melbourne, Department of Medicine, Austin and Repatriation Medical Centre, Heidelberg, Australia
    Kidney Int 63:447-53. 2003
    ..These genes also are affected in autosomal recessive Alport syndrome. The aim of this study was to demonstrate COL4A4 mutations in TBMD...
  16. ncbi request reprint Thin basement membrane nephropathy
    Judy Savige
    University of Melbourne, Department of Medicine, Austin and Repatriation Medical Centre, Heidelberg, Victoria, Australia
    Kidney Int 64:1169-78. 2003
    ..Technical difficulties in the demonstration and interpretation of COL4A3 and COL4A4 mutations mean that mutation detection is not used routinely in the diagnosis of TBMN...
  17. ncbi request reprint Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome
    Elizabeth A Shaw
    The University of Melbourne, Department of Medicine, The Northern Hospital, Epping, VIC 3076, Australia
    Nephrol Dial Transplant 22:104-8. 2007
    ..Alport syndrome is however often unrecognized, and the aim of this study was to characterize the associated but rarely described peripheral retinopathy and determine whether its demonstration was diagnostically helpful...
  18. doi request reprint Troponin I and NT-proBNP (N-terminal pro-brain natriuretic peptide) do not predict 6-month mortality in frail older patients undergoing orthopedic surgery
    Carol P Chong
    Department of Aged Care, The Northern Hospital, Epping, Victoria, Australia
    J Am Med Dir Assoc 11:415-20. 2010
    ..To determine if troponin I and NT-proBNP were predictors of 6-month mortality after emergency orthopedic-geriatric surgery in a frail population...
  19. pmc Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure
    Rachel Tan
    University of Melbourne, Northern Health, Northern Hospital, Epping VIC 3076, Australia
    Clin J Am Soc Nephrol 5:34-8. 2010
    ..This study examined whether severe mutations also resulted in the typical perimacular dot-and-fleck retinopathy...
  20. ncbi request reprint The genetics of thin basement membrane nephropathy
    Kesha Rana
    Department of Medicine, University of Melbourne, Austin Health Northern Health, The Northern Hospital, Epping, Victoria, Australia
    Semin Nephrol 25:163-70. 2005
    ..It is far more practicable to perform genetic testing to exclude or confirm X-linked Alport syndrome because this condition is the major differential diagnosis of TBMN and has a very different prognosis...
  21. doi request reprint The use of ocular abnormalities to diagnose X-linked Alport syndrome in children
    Ke Wei Zhang
    Department of Medicine, Northern Health, The Northern Hospital, The University of Melbourne, Epping, Vic, Australia
    Pediatr Nephrol 23:1245-50. 2008
    ..Hearing loss is usually highly sensitive for the diagnosis of Alport syndrome, but ocular examination of boys and their mothers at the initial consultation is a non-invasive test that is helpful in up to 40% cases...
  22. ncbi request reprint Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?
    Ke Wei Zhang
    Department of Medicine, Austin Health and Northern Health, The Northern Hospital, The University of Melbourne, Epping, Vic, 3076, Australia
    Pediatr Nephrol 22:645-51. 2007
    ..This study indicates that COL4A1/COL4A2 does not represent a further major genetic locus for TBMN...
  23. pmc The microvasculature in chronic kidney disease
    Qi Lun Ooi
    The University of Melbourne, Department of Medicine Northern Health, The Northern Hospital, Epping VIC 3076, Australia
    Clin J Am Soc Nephrol 6:1872-8. 2011
    ..Individuals with chronic kidney disease (CKD) stages 3 to 5 have an increased risk of cardiac and other vascular disease. Here we examined the association of CKD 3 to 5 with small vessel caliber...
  24. doi request reprint The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy
    Stephen Tonna
    Department of Medicine, The Northern Hospital, The University of Melbourne, Epping, VIC 3076, Australia
    Pediatr Nephrol 23:2201-7. 2008
    ..The early demonstration of R229Q in individuals with TBMN may indicate those at increased risk of proteinuria and renal impairment...
  25. ncbi request reprint The risks of thin basement membrane nephropathy
    Stephen Tonna
    Department of Medicine, The Northern Hospital, University of Melbourne, Epping, Victoria, Australia
    Semin Nephrol 25:171-5. 2005
    ..The risks for patients with TBMN in relation to pregnancy and transplantation have not been well-studied but are described elsewhere in this issue...
  26. doi request reprint Testing on formalin-fixed neutrophils is less sensitive and specific for small vessel vasculitis, and less sensitive for MPO-ANCA, than most ELISAs
    Wendy Pollock
    Gribbles Pathology, Melbourne, Vic, Australia
    J Immunol Methods 339:141-5. 2008
    ..P-ANCA specificity for MPO should be confirmed in one of the better-performing MPO-ANCA ELISAs...
  27. ncbi request reprint A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations
    Mardhiah Mohammad
    Melbourne Health, The University of Melbourne, Parkville, Vic, 3050, Australia
    Pediatr Nephrol 29:481-5. 2014
    ..We describe here a 20-year-old woman who inherited two different COL4A5 variants, one from her father (c.2677G>C) and one from her mother (c.384 +1 G>A)...
  28. doi request reprint Retinal venular calibre is increased in patients with autoimmune rheumatic disease: a case-control study
    Mali Okada
    Centre for Eye Research Australia, The University of Melbourne, Melbourne, Australia
    Curr Eye Res 38:685-90. 2013
    ..To examine retinal vessel calibre in autoimmune rheumatic disease...
  29. doi request reprint Microvascular dilatation after haemodialysis is determined by the volume of fluid removed and fall in mean arterial pressure
    Foong Kien Newk Fon Hey Tow
    Department of Medicine Northern Health, The University of Melbourne, Epping, Vic, Australia
    Kidney Blood Press Res 35:644-8. 2012
    ..The effects of haemodialysis on the microcirculation are poorly understood. This study examined the changes in small vessel calibre...
  30. ncbi request reprint Clinical and genetic features in autosomal recessive and X-linked Alport syndrome
    Yanyan Wang
    Department of Medicine Northern Health, The University of Melbourne, Epping, Vic, 3076, Australia
    Pediatr Nephrol 29:391-6. 2014
    ..This study determined the family history and clinical features that suggested autosomal recessive rather than X-linked Alport syndrome...
  31. ncbi request reprint Cardiac injury and troponin testing after orthopaedic surgery
    Carol P Chong
    The Northern Clinical Research Centre, The Northern Hospital, Epping, Victoria, Australia
    Injury 42:855-63. 2011
    ..The detection of cardiac injury has been aided by the use of cardiac troponins which has also raised questions about the utility of this enzyme in the post-operative setting...
  32. ncbi request reprint Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome
    Hayat Dagher
    Department of Medicine, Austin and Repatriation Medical Centre, University of Melbourne, Heidelberg, Victoria, Australia
    Hum Mutat 20:321-2. 2002
    ..The other non-pathogenic sequence variants noted in COL4A4 included a nonglycine missense variant (L1004P), an intronic variant (4731-8 T>C) and a neutral polymorphism (V1516V)...
  33. ncbi request reprint Clinical, histopathologic, and genetic studies in nine families with focal segmental glomerulosclerosis
    Kesha Rana
    University Department of Medicine, Austin and Repatriation Medical Centre, Heidelberg, Vic, Australia
    Am J Kidney Dis 41:1170-8. 2003
    ....
  34. doi request reprint Antineutrophil cytoplasmic antibody (ANCA) testing of routine sera varies in different laboratories but concordance is greater for cytoplasmic fluorescence (C-ANCA) and myeloperoxidase specificity (MPO-ANCA)
    Wendy Pollock
    The University of Melbourne, Department of Medicine, The Northern Hospital, Epping VIC 3076, Australia
    J Immunol Methods 347:19-23. 2009
    ..Concordance for test results might be improved with further standardisation of testing methodologies...
  35. ncbi request reprint Addendum to the International Consensus Statement on testing and reporting of antineutrophil cytoplasmic antibodies. Quality control guidelines, comments, and recommendations for testing in other autoimmune diseases
    Judy Savige
    University of Melbourne, Department of Medicine, Austin and Repatriation Medical Centre, Heidelberg, VIC 3084, Australia
    Am J Clin Pathol 120:312-8. 2003
    ....
  36. doi request reprint Retinal atrophy associated with FSGS in a patient with MELAS syndrome
    Rajeev Deva
    The University of Melbourne, Department of Medicine, Northern Health, Epping, Victoria, Australia
    Kidney Int 74:252. 2008
  37. ncbi request reprint Hematuria in thin basement membrane nephropathy
    David K Packham
    Department of Medicine, University of Melbourne, Melbourne, Australia
    Semin Nephrol 25:146-8. 2005
    ..Hematuria is persistent in most patients with TBMN, but occasionally it resolves or is intermittent...
  38. doi request reprint Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes
    J Des Parkin
    Department of Medicine Northern Health, The University of Melbourne, Northern Health, Epping VIC 3076, Australia
    Hum Mutat 32:127-43. 2011
    ..These maps further our understanding of basement membrane biology and disease, and suggest novel membrane interactions, functions, and therapeutic targets...
  39. ncbi request reprint The epidemiology of thin basement membrane nephropathy
    Yan Yan Wang
    Department of Medicine, The Northern Hospital, University of Melbourne, Epping, Australia
    Semin Nephrol 25:136-9. 2005
    ....
  40. doi request reprint Usefulness of N-terminal pro-brain natriuretic peptide to predict postoperative cardiac complications and long-term mortality after emergency lower limb orthopedic surgery
    Carol P Chong
    Department of Aged Care, The Northern Hospital, Epping, Victoria, Australia
    Am J Cardiol 106:865-72. 2010
    ..In conclusion, increase pre- and postoperative NT-pro-BNP levels are independent predictors of in-hospital cardiac events and 1- and 2-year mortality in older patients undergoing emergency orthopedic surgery...
  41. ncbi request reprint Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant, and freely available?
    Judy Savige
    Department of Medicine, The University of Melbourne Northern Health Melbourne Health, Melbourne, Australia
    Hum Mutat 35:791-3. 2014
    ..Future efforts should focus on encouraging experts to collaborate on a single database for each gene affected in inherited renal disease, including both unpublished variants, and clinical phenotypes. ..
  42. pmc Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis
    Samuel F Berkovic
    Department of Medicine, Austin Health and Northern Health, Heidelberg, Victoria 3081, Australia
    Am J Hum Genet 82:673-84. 2008
    ..The heterogeneous pathology in the kidney and brain suggests that SCARB2/Limp2 has pleiotropic effects that may be relevant to understanding the pathogenesis of other forms of glomerulosclerosis or collapse and myoclonic epilepsies...
  43. ncbi request reprint A novel model of autosomal dominant Alport syndrome in Dalmatian dogs
    Jennifer C Hood
    Division of Veterinary and Biomedical Sciences, Murdoch University, Murdoch, Australia
    Nephrol Dial Transplant 17:2094-8. 2002
    ..It is usually caused by mutations in the COL4A3 or COL4A4 genes which code for the alpha3 and alpha4 chains of type IV collagen. We describe here a novel spontaneous model of autosomal dominant Alport syndrome in Dalmatian dogs...
  44. ncbi request reprint COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN)
    Yan Yan Wang
    University of Melbourne Department of Medicine, Austin and Repatriation Medical Centre, Heidelberg, Victoria, Australia
    Kidney Int 65:786-90. 2004
    ..Thin basement membrane nephropathy (TBMN) is often caused by mutations in the COL4A3 and COL4A4 genes...
  45. doi request reprint Evaluation of a multiplex flow cytometric immunoassay to detect PR3- and MPO-ANCA in active and treated vasculitis, and in inflammatory bowel disease (IBD)
    Michelle Trevisin
    Pathology Department, Austin Health, Heidelberg, VIC 3084, Australia
    J Immunol Methods 336:104-12. 2008
    ..A major advantage of this assay is its ability to be further modified to simultaneously screen for a panel of autoantibodies relevant to vasculitis...
  46. ncbi request reprint Red blood cells and thin basement membrane disease
    Judy Savige
    Kidney Int 61:1550. 2002
  47. ncbi request reprint Asymptomatic microscopic hematuria
    Judy Savige
    Urology 59:631-2. 2002
  48. ncbi request reprint Thin basement membrane nephropathy and coincidental renal biopsy lesions
    Judy Savige
    Nephrology (Carlton) 9:52. 2004
  49. ncbi request reprint Re: The association of an increased urinary calcium-to-creatinine ratio, and asymptomatic gross and microscopic hematuria in children
    Lydia Sin
    J Urol 168:2126-7. 2002
  50. ncbi request reprint Correlation of histopathological features and renal impairment in autosomal dominant Alport syndrome in Bull terriers
    Jennifer C Hood
    Section of Pathology, Division of Veterinary and Biomedical Sciences, Murdoch University, Western Australia, Australia
    Nephrol Dial Transplant 17:1897-908. 2002
    ..Bull terrier hereditary nephritis represents a model for autosomal dominant Alport syndrome, as affected dogs have the characteristically lamellated glomerular basement membrane and demonstrate vertical male-to-male disease transmission...
  51. ncbi request reprint Anti-neutrophil cytoplasmic antibody (ANCA)-associated microscopic polyangiitis following a suppurative wound infection
    Benedict Chan
    Nephrol Dial Transplant 21:2993-4. 2006
  52. ncbi request reprint Antigen-specific ANCA ELISAs have different sensitivities for active and treated vasculitis and for nonvasculitic disease
    Michelle Trevisin
    Division of Laboratory Medicine, Austin Hospital, Heidelberg, Australia
    Am J Clin Pathol 129:42-53. 2008
    ....