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International Consensus Statement on Testing and Reporting of Antineutrophil Cytoplasmic Antibodies (ANCA)
Any report of positive neutrophil fluorescence issued before the ELISA results are available should indicate that positive fluorescence alone is not specific for the diagnosis of Wegener granulomatosis or microscopic polyangiitis and that decisions about treatment should not be based solely on the ANCA results.
Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy.
- J. Savige, M. Gregory, O. Gross, C. Kashtan, Jie Ding, F. Flinter
- MedicineJournal of the American Society of Nephrology…
- 1 March 2013
The recommendations include the use of genetic testing as the gold standard for the diagnosis of Alport syndrome and the demonstration of its mode of inheritance.
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
- K. Heath, Á. Campos-Barros, J. Martignetti
- Biology, MedicineAmerican journal of human genetics
- 1 November 2001
The data suggest that MHA, SBS, FTNS, EPS, and APSM comprise a phenotypic spectrum of disorders, all caused by MYH9 mutations, and the name "MYHIIA syndrome" is proposed to encompass all of these disorders.
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
Alport syndrome. A review of the ocular manifestations.
The ocular and other clinical features of autosomal recessive Alport syndrome are identical to those seen in X-linked disease, while retinopathy and cataracts are the only ocular abnormalities described in the rare autosomal dominant form of Alport Syndrome.
Position paper: Revised 2017 international consensus on testing of ANCAs in granulomatosis with polyangiitis and microscopic polyangiitis
It is proposed that high-quality immunoassays can be used as the primary screening method for patients suspected of having the ANCA-associated vaculitides GPA and MPA without the categorical need for IIF, and evidence is presented to support this recommendation.
- J. Savige, Kesha Rana, S. Tonna, M. Buzza, H. Dagher, Yan Yan Wang
- Medicine, BiologyThe New England journal of medicine
- 1 October 2003
Families with TBMN in whom hematuria does not segregate with the COL4A3/COL4A4 locus can be explained by de novo mutations, incomplete penetrance of hematuría, coincidental hematurIA in family members without COL4 a3 or COL4a4 mutations, and by a novel gene locus for T BMN.
Antineutrophil cytoplasmic antibodies and associated diseases: a review of the clinical and laboratory features.
- J. Savige, D. Davies, R. Falk, J. Jennette, A. Wiik
- Biology, MedicineKidney international
- 1 March 2000
The "International Consensus Statement on Testing and Reporting of Antineutrophil Cytoplasmic Antibodies (ANCA)" has been developed and new diagnostic criteria for the small vessel vasculitides that take into account ANCA-positivity and target antigen specificity as well as histologic features are currently being produced.
Addendum to the International Consensus Statement on testing and reporting of antineutrophil cytoplasmic antibodies. Quality control guidelines, comments, and recommendations for testing in other…
- J. Savige, W. Dimech, R. Wong
- Medicine, BiologyAmerican journal of clinical pathology
- 1 September 2003
The group that produced the International Consensus Statement has developed guidelines for the corresponding quality control activities, examples of comments for various IIF patterns and ELISA results, and recommendations for ANCA testing when inflammatory bowel disease and other nonvasculitic ANCA-associated autoimmune diseases are suspected.
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
- H. Storey, J. Savige, V. Sivakumar, S. Abbs, F. Flinter
- Medicine, BiologyJournal of the American Society of Nephrology…
- 1 December 2013
Patient phenotypes may vary depending on the underlying mutations, and genetic testing should be considered for the routine diagnosis of autosomal recessive Alport syndrome.