How I treat thrombotic microangiopathy in the era of rapid genomics

Editorial Material Urology & Nephrology

How I Treat Complement-Mediated TMA

C. John Sperati

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2022)

Article Transplantation

Genetics-first approach improves diagnostics of ESKD patients <50 years old

Rozemarijn Snoek et al.

Summary: Genetic testing in chronic kidney disease patients, especially those with high likelihood of genetic disease, can provide early diagnosis, impact prognosis and treatment, and reduce the need for invasive biopsies.

NEPHROLOGY DIALYSIS TRANSPLANTATION (2022)

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Review Genetics & Heredity

Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists

Silvia Kalantari et al.

Summary: Adult onset CblC disease is a rare disorder with a variety of symptoms, including neurological, psychiatric, renal, ophthalmic and thromboembolic symptoms. Diagnosis can be delayed due to poor awareness of the disease among medical professionals. Treatment with hydroxycobalamin is effective in reversing symptoms. Adult patients usually have compound heterozygous variants in the MMACHC gene. It is important to consider CblC disease in the differential diagnosis of adult patients with specific symptoms.

ORPHANET JOURNAL OF RARE DISEASES (2022)

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Article Genetics & Heredity

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Kushani Jayasinghe et al.

Summary: In a cohort of patients with suspected monogenic kidney disease in Australia, exome sequencing (ES) had a high diagnostic yield and clinical impact. The study identified predictors of positive diagnosis and highlighted the potential benefits of using ES in guiding clinical practice and health service design.

GENETICS IN MEDICINE (2021)

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Article Hematology

Eculizumab discontinuation in children and adults with atypical hemolytic-uremic syndrome: a prospective multicenter study

Fadi Fakhouri et al.

Summary: The study on eculizumab discontinuation in patients with atypical hemolytic uremic syndrome (aHUS) showed that a strategy based on complement genetics is reasonable and safe, improving patient management and quality of life while reducing treatment costs.

BLOOD (2021)

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Article Urology & Nephrology

Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience

Tiziana Vaisitti et al.

Summary: Through a multidisciplinary cooperative effort, an analytical pipeline was built to perform clinical exome sequencing on patients with chronic kidney disease with a clinical suspicion of a monogenic condition or without a well-defined diagnosis, resulting in identifying genetic variants potentially explaining the phenotype in approximately 56.5% of cases. These results underscore the importance of clinical exome sequencing as a versatile and highly useful tool for genetic diagnosis of kidney diseases.

JOURNAL OF NEPHROLOGY (2021)

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Article Hematology

Annual incidence and severity of acute episodes in hereditary thrombotic thrombocytopenic purpura

Erika Tarasco et al.

Summary: This study provides prospective data on 87 patients with hereditary thrombotic thrombocytopenic purpura, revealing a lower annual incidence of acute episodes in this population but a higher risk of episodes in pediatric patients, with prophylactic plasma infusion regimens being inadequate in preventing acute episodes.

BLOOD (2021)

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Article Hematology

Redefining outcomes in immune TTP: an international working group consensus report

Adam Cuker et al.

Summary: Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a potentially fatal disease caused by severe deficiency of ADAMTS13, and standardized definitions of response and exacerbation primarily based on platelet count have been modified to incorporate ADAMTS13 activity and the effects of anti-VWF therapy. The revised definitions distinguish between clinical and ADAMTS13 remission and relapse, and are benchmarked against not only the timing of discontinuation of therapeutic plasma exchange (TPE) but also that of anti-VWF therapy. Validation of the revised definitions is retrospective, with discussion on the clinical implications of the updated outcome definitions.

BLOOD (2021)

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Article Urology & Nephrology

Inherited Kidney Complement Diseases

Mathieu Lemaire et al.

Summary: In the past 20 years, there have been significant advances in diagnosing and treating genetic kidney diseases caused by complement dysregulation. One major area of progress has been in understanding the genetic basis and pathophysiology of aHUS and C3-dominant glomerulopathies, leading to the development of innovative therapies that have greatly improved patient outcomes. Key genes associated with these diseases have been identified, and future directions for research are being explored.

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2021)

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Article Genetics & Heredity

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level

Stephanie Best et al.

Summary: By utilizing implementation science principles, we identified the importance of networks, leadership, culture, and the relative advantage of ultra-rapid genomics in caring for critically ill children. While clinical geneticists focused on intervention characteristics, intensivists emphasized the importance of access to knowledge. Tailoring support based on professional role and implementation phase is essential to maximize the potential of ultra-rapid genomic testing in improving patient care.

NPJ GENOMIC MEDICINE (2021)

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Review Urology & Nephrology

Thrombotic microangiopathy in aHUS and beyond: clinical clues from complement genetics

Fadi Fakhouri et al.

Summary: Studies of complement genetics have led to specific treatments for aHUS, raised questions about systematic testing in typical and secondary HUS, and highlighted complexities in interpreting results for malignant hypertension-associated TMA.

NATURE REVIEWS NEPHROLOGY (2021)

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Editorial Material Urology & Nephrology

Establishing a nephrology genetic clinic

Filippo Pinto e Vairo et al.

KIDNEY INTERNATIONAL (2021)

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Letter Medicine, General & Internal

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

Mallory J. Owen et al.

Summary: Speedy genetic diagnosis is crucial for infantile encephalopathy, as it can help avoid the risk of permanent neurological injury or death. A patient's genome was sequenced and diagnosed within 13 hours, leading to informed treatment.

NEW ENGLAND JOURNAL OF MEDICINE (2021)

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Letter Urology & Nephrology

Nephronophthisis in Young Adults Phenocopying Thrombotic Microangiopathy and Severe Nephrosclerosis

Alice Doreille et al.

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2021)

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Article Urology & Nephrology

Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies

Korbinian M. Riedhammer et al.

AMERICAN JOURNAL OF KIDNEY DISEASES (2020)

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Article Medicine, General & Internal

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Sebastian Lunke et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2020)

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Editorial Material Urology & Nephrology

Phenocopies, Phenotypic Expansion, and Coincidental Diagnoses: Time to Abandon Targeted

Dina F. Ahram et al.

AMERICAN JOURNAL OF KIDNEY DISEASES (2020)

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Article Hematology

Management of thrombotic microangiopathy in pregnancy and postpartum: report from an international working group

Fadi Fakhouri et al.

BLOOD (2020)

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Review Environmental Sciences

Look Alike, Sound Alike: Phenocopies in Steroid-Resistant Nephrotic Syndrome

Francesca Becherucci et al.

INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2020)

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Article Genetics & Heredity

A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants

Julie A. Cakici et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

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Article Hematology

Impact of hypertensive emergency and rare complement variants on the presentation and outcome of atypical hemolytic uremic syndrome

Khalil El Karoui et al.

HAEMATOLOGICA (2019)

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Article Pediatrics

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges

Alison M. Elliott et al.

EUROPEAN JOURNAL OF PEDIATRICS (2019)

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Article Urology & Nephrology

Severe and malignant hypertension are common in primary atypical hemolytic uremic syndrome

Teresa Cavero et al.

KIDNEY INTERNATIONAL (2019)

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Meeting Abstract Hematology

Plasma Exchange in Thrombotic Microangiopathy: Is It Time Sensitive?

Sindhu Malapati et al.

BLOOD (2019)

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Article Urology & Nephrology

Complement Activation and Thrombotic Microangiopathies

Marta Palomo et al.

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2019)

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Review Medicine, General & Internal

Hereditary Thrombotic Thrombocytopenic Purpura

Johanna A. Kremer Hovinga et al.

NEW ENGLAND JOURNAL OF MEDICINE (2019)

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Article Medicine, General & Internal

Diagnostic Utility of Exome Sequencing for Kidney Disease

E. E. Groopman et al.

NEW ENGLAND JOURNAL OF MEDICINE (2019)

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Article Medicine, General & Internal

Caplacizumab Treatment for Acquired Thrombotic Thrombocytopenic Purpura

M. Scully et al.

NEW ENGLAND JOURNAL OF MEDICINE (2019)

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Article Urology & Nephrology

An Ex Vivo Test of Complement Activation on Endothelium for Individualized Eculizumab Therapy in Hemolytic Uremic Syndrome

Miriam Galbusera et al.

AMERICAN JOURNAL OF KIDNEY DISEASES (2019)

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Article Multidisciplinary Sciences

APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Jean-Louis Gueant et al.

NATURE COMMUNICATIONS (2018)

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Article Urology & Nephrology

Cobalamin C Deficiency Induces a Typical Histopathological Pattern of Renal Arteriolar and Glomerular Thrombotic Microangiopathy

Mathilde Lemoine et al.

KIDNEY INTERNATIONAL REPORTS (2018)

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Article Urology & Nephrology

Pathogenic Variants in Complement Genes and Risk of Atypical Hemolytic Uremic Syndrome Relapse after Eculizumab Discontinuation

Fadi Fakhouri et al.

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)

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Article Endocrinology & Metabolism

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Martina Huemer et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2017)

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Article Urology & Nephrology

Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease

Rachel C. Challis et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)

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Review Pediatrics

Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity

Bodo B. Beck et al.

PEDIATRIC NEPHROLOGY (2017)

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Article Cardiac & Cardiovascular Systems

Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome

Florian Wuennemann et al.

CANADIAN JOURNAL OF CARDIOLOGY (2016)

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Article Medicine, General & Internal

Caplacizumab for Acquired Thrombotic Thrombocytopenic Purpura

Flora Peyvandi et al.

NEW ENGLAND JOURNAL OF MEDICINE (2016)

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Review Hematology

The role of rituximab in the management of patients with acquired thrombotic thrombocytopenic purpura

Wendy Lim et al.

BLOOD (2015)

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Article Genetics & Heredity

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards et al.

GENETICS IN MEDICINE (2015)

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Editorial Material Medicine, General & Internal

Cobalamin C deficiency-associated thrombotic microangiopathy: uncommon or unrecognised?

James N. George

LANCET (2015)

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Editorial Material Medicine, General & Internal

Adult-onset renal thrombotic microangiopathy and pulmonary arterial hypertension in cobalamin C deficiency

Steven Grange et al.

LANCET (2015)

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News Item Multidisciplinary Sciences

The $1,000 genome

Erika Check Hayden

NATURE (2014)

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Article Urology & Nephrology

Genetics and Outcome of Atypical Hemolytic Uremic Syndrome: A Nationwide French Series Comparing Children and Adults

Veronique Fremeaux-Bacchi et al.

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2013)

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Review Biochemistry & Molecular Biology

Complement factor H related proteins (CFHRs)

Christine Skerka et al.

MOLECULAR IMMUNOLOGY (2013)

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Article Hematology

Anovel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome

Nigel J. Francis et al.

BLOOD (2012)

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Article Hematology

Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura

Marie Moatti-Cohen et al.

BLOOD (2012)

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Article Endocrinology & Metabolism

Cobalamin C defect: natural history, pathophysiology, and treatment

Diego Martinelli et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2011)

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Review Hematology

How I treat patients with thrombotic thrombocytopenic purpura: 2010

James N. George

BLOOD (2010)

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Article Urology & Nephrology

Clinical Features of Anti-Factor H Autoantibody-Associated Hemolytic Uremic Syndrome

Marie-Agnes Dragon-Durey et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2010)

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Article Hematology

Sox18 and Sox7 play redundant roles in vascular development

Solei Cermenati et al.

BLOOD (2008)

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Article Medicine, General & Internal

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene

Julian P. Venables et al.

PLOS MEDICINE (2006)

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Article Genetics & Heredity

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia

A Irrthum et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)

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How I treat thrombotic microangiopathy in the era of rapid genomics

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