ArticleResearch and practice in thrombosis and haemostasis2017
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.
Article in Research and practice in thrombosis and haemostasis, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 28 citations in OpenAlex.
- Identification of Monogenic Causes of Arterial Ischemic Stroke in Children with Arteriopathies by Next-Generation Sequencing.International journal of molecular sciences · 2025Article
- Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis.Blood advances · 2024Article
- Increased Complement Activation and Decreased ADAMTS13 Activity Are Associated with Genetic Susceptibility in Patients with Preeclampsia/HELLP Syndrome Compared to Healthy Pregnancies: An Observational Case-Controlled Study.Journal of personalized medicine · 2024Article
- Identification of 8 Rare Deleterious Variants in ADAMTS13 by Next-generation Sequencing in a Chinese Population with Thrombotic Thrombocytopenic Purpura.Current medical science · 2023Article
- The Rationale of Complement Blockade of the MCPInternational journal of molecular sciences · 2023Review
- Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing.Diagnostics (Basel, Switzerland) · 2022Article
- Genetic justification of severe COVID-19 using a rigorous algorithm.Clinical immunology (Orlando, Fla.) · 2021Article
- FHR-5 Serum Levels andFrontiers in immunology · 2021Article
- Thrombotic microangiopathy triggered by podocytopathy.Clinical nephrology. Case studies · 2021Article
- Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome.Frontiers in medicine · 2021Article
- Diagnostic Testing for Differential Diagnosis in Thrombotic MicroangiopathiesTurkish journal of haematology : official journal of Turkish Society of Haematology · 2019Review
- Atypical haemolytic uremic syndrome from multiple missenses to a full-blown disease.BMJ case reports · 2019Article
- Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome.CEN case reports · 2018Article
- Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.Research and practice in thrombosis and haemostasis · 2017Article
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe 2 main forms of thrombotic microangiopathy (TMA) are thrombotic thrombocytopenic purpura (TTP) and atypical hemolytic uremic syndrome (aHUS). Deficiency of ADAMTS13 and dysregulation of the complement pathway result in TTP and aHUS, respectively; however, overlap of their clinical characteristics makes differential diagnosis challenging. OBJECTIVES AND
methodsWe aimed to develop a TMA diagnosis workflow based on ADAMTS13 activity and screening of PATIENTS: For this, from a cohort of 154 Portuguese patients with acute TMA, the genotype-phenotype correlations were analyzed in 7 hereditary TTP (ADAMTS13 activity <10%, no inhibitor), 36 acquired TTP (ADAMTS13 activity <10%, presence of an inhibitor), and in 34 presumable aHUS.
resultsIn total, 37 different rare variants, 8 of which novel (in
conclusionsOur study provides evidence of the usefulness of the NGS panel as an excellent technology that enables more rapid diagnosis of TMA, and is a valuable asset in clinical practice to discriminate between TTP and aHUS.
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