A novel point mutation in the β1‐tubulin gene in asymptomatic macrothrombocytopenic Norfolk and Cairn Terriers

Gelain, Maria Elena; Bertazzolo, Walter; Tutino, Giuseppina; Pogliani, E; Cian, Francesco; Boudreaux, Mary K.

doi:10.1111/vcp.12168

Cited by 17 publications

(13 citation statements)

References 12 publications

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“…Congenital macrothrombocytopenia should be suspected in dogs with chronic thrombocytopenia in the absence of bleeding signs. Congenital macrothrombocytopenia due to a β1 tubulin gene mutation has been identified in the Cavalier King Charles Spaniel, Norfolk and Cairn Terriers, and other breeds . Auburn University and several commercial laboratories offer DNA testing that can be employed to identify the causative mutation.…”

Section: Itp As a Diagnosis Of Exclusion: What Should Be Excluded?mentioning

confidence: 99%

Immune thrombocytopenia (ITP): Pathophysiology update and diagnostic dilemmas

LeVine

Brooks

2019

Veterinary Clinical Pathol

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Immune thrombocytopenia (ITP) is a common autoimmune bleeding disorder. The understanding of ITP pathogenesis is rapidly evolving. We now recognize ITP as a complex and heterogeneous syndrome that results from a combination of humoral and cell-mediated attacks on platelets peripherally and megakaryocytes in the bone marrow. Autoantibody-mediated ITP also varies in the pathway used to clear platelets, which depends on the platelet glycoprotein being targeted. Moreover, ITP patients present with variable bleeding severities and treatment responses that do not closely correlate with platelet count. A gold standard diagnostic test for ITP is lacking, and biomarkers to assess disease severity are in their infancy. This review provides an update on the immunopathogenesis of ITP and summarizes currently available tests for ITP diagnosis, prediction of disease severity, and treatment responses. Given the heterogeneous pathogenesis and clinical presentation of ITP, we highlight the need for the development of diagnostic and prognostic tests that would allow for the individualized management of a complex disease. K E Y W O R D Sautoantibodies/autoimmune disease, bleeding score, dog, hemorrhage, immune thrombocytopenia, immunology, platelet

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Section: Itp As a Diagnosis Of Exclusion: What Should Be Excluded?mentioning

confidence: 99%

Immune thrombocytopenia (ITP): Pathophysiology update and diagnostic dilemmas

LeVine

Brooks

2019

Veterinary Clinical Pathol

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“…These cells are classified by flow cytometry based on their size (forward light scatter) and their fluorescence intensity (nucleic acid content) [ 7 ]. Since 2009, the detection of r-PLTs in dogs with the Sysmex XT-2000iV automated hematology analyzer has been evaluated and a reference interval has been established ( n = 40 dogs [ 8 ] and 86 dogs respectively [ 9 ]).…”

Section: Introductionmentioning

confidence: 99%

“…The aims of our study were 1) to compare an optimized gate with the two previously published gating methods [ 8 , 9 ], 2) to assess the impact of potentially interfering cellular populations on r-PLT measurements, 3) to optimize the gates for measurement of r-PLTs with the XT-2000iV to eliminate possible interferences, and 4) to establish reference intervals for r-PLTs measured with the own and the previously published gating methods as well as for platelet indices in a reference population of > 120 dogs as recommended by the ASVCP [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

Optimized gating and reference ranges of reticulated platelets in dogs for the Sysmex XT-2000iV

et al. 2016

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BackgroundCanine reticulated platelets (r-PLTs) i.e., juvenile PLTs reflecting thrombopoiesis can be measured automatically with the hematology analyzer Sysmex XT-2000iV using manual gating options. However, the impact of interferences on r-PLT measurements performed with the gates published previously (Pankraz et al., Vet Clin Path 38:30–38, 2009; Gelain et al., High fluorescent platelets fraction in macrothrombocytopenic Norfolk terrier, 2010) is largely unknown.The aim was to compare different published gates for measurement of r-PLTs with the Sysmex XT-2000iV with an own, optimized gate (“Oellers-gate”) and to establish reference intervals (RIs) in > 120 dogs.Data of 362 measurements of diseased and healthy dogs were analyzed retrospectively. Several gates were applied and RIs for r-PLTs and platelet indices were established for pet dogs and a group of 153 healthy Beagles kept under defined housing conditions. Intra-assay precision (CV) was also assessed.ResultsIn 30/362 samples, interferences consistent with small erythrocytes/reticulocytes were seen in the previously published gates but not in the “Oellers-gate”. Good correlation was found between the different gates (rs: 0.88–1.00). RIs for the “Pankraz-gate”, the “Gelain-gate”, and the “Oellers-gate” were 0.0–1.2, 0.2–3.7 and 0.2–3.9 % respectively. CVs were ranging between 22 and 41 %.ConclusionsOptimization of previously published gates minimized interferences of small erythrocytes with r-PLT measurements.

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“…Dogs with symptomatic immune‐mediated disease processes and dogs receiving chemotherapeutic or immunosuppressive medications were excluded. Dog breeds with characterized syndromes of congenital macrothrombocytopenia (eg, Cavalier King Charles Spaniels, Cairn Terriers, and Norfolk Terriers) were excluded unless a previous blood sample within the past year documented normal platelet data. Dogs receiving a transfusion of any allogenic blood product or anticoagulant treatment in the 28 days prior to diagnosis of septic peritonitis were also excluded …”

Section: Methodsmentioning

confidence: 99%