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  1. Article ; Online: Kidney Biopsy Should Be Performed to Document the Cause of Immune Checkpoint Inhibitor-Associated Acute Kidney Injury: PRO.

    Eijgelsheim, Mark / Sprangers, Ben

    Kidney360

    2020  Volume 1, Issue 3, Page(s) 158–161

    MeSH term(s) Acute Kidney Injury/chemically induced ; Biopsy/adverse effects ; Humans ; Immune Checkpoint Inhibitors/adverse effects ; Kidney/pathology ; Nephritis, Interstitial/etiology
    Chemical Substances Immune Checkpoint Inhibitors
    Language English
    Publishing date 2020-02-11
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2641-7650
    ISSN (online) 2641-7650
    DOI 10.34067/KID.0001192019
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology.

    de Haan, Amber / Eijgelsheim, Mark / Vogt, Liffert / Knoers, Nine V A M / de Borst, Martin H

    Frontiers in genetics

    2019  Volume 10, Page(s) 1264

    Abstract: Advances in next-generation sequencing (NGS) techniques, including whole exome sequencing, have facilitated cost-effective sequencing of large regions of the genome, enabling the implementation of NGS in clinical practice. Chronic kidney disease (CKD) is ...

    Abstract Advances in next-generation sequencing (NGS) techniques, including whole exome sequencing, have facilitated cost-effective sequencing of large regions of the genome, enabling the implementation of NGS in clinical practice. Chronic kidney disease (CKD) is a major contributor to global burden of disease and is associated with an increased risk of morbidity and mortality. CKD can be caused by a wide variety of primary renal disorders. In about one in five CKD patients, no primary renal disease diagnosis can be established. Moreover, recent studies indicate that the clinical diagnosis may be incorrect in a substantial number of patients. Both the absence of a diagnosis or an incorrect diagnosis can have therapeutic implications. Genetic testing might increase the diagnostic accuracy in patients with CKD, especially in patients with unknown etiology. The diagnostic utility of NGS has been shown mainly in pediatric CKD cohorts, while emerging data suggest that genetic testing can also be a valuable diagnostic tool in adults with CKD. In addition to its implications for unexplained CKD, NGS can contribute to the diagnostic process in kidney diseases with an atypical presentation, where it may lead to reclassification of the primary renal disease diagnosis. So far, only a few studies have reported on the diagnostic yield of NGS-based techniques in patients with unexplained CKD. Here, we will discuss the potential diagnostic role of gene panels and whole exome sequencing in pediatric and adult patients with unexplained and atypical CKD.
    Language English
    Publishing date 2019-12-13
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2019.01264
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  3. Article ; Online: Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.

    de Haan, Amber / van Eerde, Albertien M / Eijgelsheim, Mark / Rump, Patrick / van der Zwaag, Bert / Hennekam, Eric / Živná, Martina / Kmoch, Stanislav / Bleyer, Anthony J / Kidd, Kendrah / Vogt, Liffert / Knoers, Nine V A M / de Borst, Martin H

    Kidney international

    2023  Volume 103, Issue 5, Page(s) 986–989

    MeSH term(s) Humans ; High-Throughput Nucleotide Sequencing ; Kidney Diseases/genetics ; Mucin-1/genetics ; Mutation ; Nephritis, Interstitial/diagnosis ; Nephritis, Interstitial/genetics ; Pedigree
    Chemical Substances MUC1 protein, human ; Mucin-1
    Language English
    Publishing date 2023-03-22
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 120573-0
    ISSN 1523-1755 ; 0085-2538
    ISSN (online) 1523-1755
    ISSN 0085-2538
    DOI 10.1016/j.kint.2023.02.021
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 797: Show issues Location:
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  4. Article ; Online: Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown etiology: rationale and design of a national prospective cohort study.

    de Haan, Amber / Eijgelsheim, Mark / Vogt, Liffert / van der Zwaag, Bert / van Eerde, Albertien M / Knoers, Nine V A M / de Borst, Martin H

    BMJ open

    2022  Volume 12, Issue 4, Page(s) e057829

    Abstract: Introduction: Chronic kidney disease (CKD) can be caused by a variety of systemic or primary renal diseases. The cause of CKD remains unexplained in approximately 20% of patients. Retrospective studies indicate that massively parallel sequencing (MPS)- ... ...

    Abstract Introduction: Chronic kidney disease (CKD) can be caused by a variety of systemic or primary renal diseases. The cause of CKD remains unexplained in approximately 20% of patients. Retrospective studies indicate that massively parallel sequencing (MPS)-based gene panel testing may lead to a genetic diagnosis in 12%-56% of patients with unexplained CKD, depending on patient profile. The diagnostic yield of MPS-based testing in a routine healthcare setting is unclear. Therefore, the primary aim of the VARIETY (Validation of algoRithms and IdEnTification of genes in Young patients with unexplained CKD) study is to prospectively address the diagnostic yield of MPS-based gene panel testing in patients with unexplained CKD and an estimated glomerular filtration rate (eGFR) <60 mL/min/1.73 m
    Methods and analysis: The VARIETY study is an ongoing, prospective, nationwide observational cohort study to investigate the diagnostic yield of MPS-based testing in patients with unexplained CKD in a routine healthcare setting in the Netherlands. Patients are recruited from outpatient clinics in hospitals across the Netherlands. At least 282 patients will be included to meet the primary aim. Secondary analyses include subgroup analyses according to age and eGFR at first presentation, family history, and the presence of extrarenal symptoms.
    Ethics and dissemination: Ethical approval for the study has been obtained from the institutional review board of the University Medical Center Groningen. Study findings should inform physicians and policymakers towards optimal implementation of MPS-based diagnostic testing in patients with unexplained CKD.
    MeSH term(s) Disease Progression ; Glomerular Filtration Rate ; High-Throughput Nucleotide Sequencing ; Humans ; Middle Aged ; Prospective Studies ; Renal Insufficiency, Chronic/diagnosis ; Renal Insufficiency, Chronic/genetics ; Retrospective Studies
    Language English
    Publishing date 2022-04-07
    Publishing country England
    Document type Journal Article ; Observational Study ; Research Support, Non-U.S. Gov't
    ZDB-ID 2599832-8
    ISSN 2044-6055 ; 2044-6055
    ISSN (online) 2044-6055
    ISSN 2044-6055
    DOI 10.1136/bmjopen-2021-057829
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure.

    de Haan, Amber / Morel, Chantal F / Eijgelsheim, Mark / de Jong, Margriet F C / Broekroelofs, Jan / Vogt, Liffert / Knoers, Nine V A M / de Borst, Martin H

    Clinical kidney journal

    2022  Volume 16, Issue 4, Page(s) 722–726

    Abstract: Background: The cause of chronic kidney disease (CKD) remains unknown in ∼20% of patients with kidney failure. Massively parallel sequencing (MPS) can be a valuable diagnostic tool in patients with unexplained CKD, with a diagnostic yield of 12%-56%. ... ...

    Abstract Background: The cause of chronic kidney disease (CKD) remains unknown in ∼20% of patients with kidney failure. Massively parallel sequencing (MPS) can be a valuable diagnostic tool in patients with unexplained CKD, with a diagnostic yield of 12%-56%. Here, we report the use of MPS to establish a genetic diagnosis in a 24-year-old index patient who presented with hypertension, nephrotic-range proteinuria and kidney failure of unknown origin. Additionally, we describe a second family with the same mutation presenting with early-onset CKD.
    Results: In Family 1, MPS identified a known pathogenic variant in
    Conclusion: These findings highlight the large phenotypic heterogeneity associated with
    Language English
    Publishing date 2022-12-15
    Publishing country England
    Document type Journal Article
    ZDB-ID 2655800-2
    ISSN 2048-8513 ; 2048-8505
    ISSN (online) 2048-8513
    ISSN 2048-8505
    DOI 10.1093/ckj/sfac269
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6587: Show issues Location:
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  6. Article: Genetic Determinants of Serum Calcification Propensity and Cardiovascular Outcomes in the General Population.

    de Haan, Amber / Ahmadizar, Fariba / van der Most, Peter J / Thio, Chris H L / Kamali, Zoha / Ani, Alireza / Ghanbari, Mohsen / Chaker, Layal / van Meurs, Joyce / Ikram, M Kamran / van Goor, Harry / Bakker, Stephan J L / van der Harst, Pim / Snieder, Harold / Kavousi, Maryam / Pasch, Andreas / Eijgelsheim, Mark / de Borst, Martin H

    Frontiers in cardiovascular medicine

    2022  Volume 8, Page(s) 809717

    Abstract: Background: Serum calciprotein particle maturation time (T: Methods: We performed a genome-wide association study of serum T: Results: We identified three independent genome-wide significant single nucleotide polymorphism (SNPs) in the : ... ...

    Abstract Background: Serum calciprotein particle maturation time (T
    Methods: We performed a genome-wide association study of serum T
    Results: We identified three independent genome-wide significant single nucleotide polymorphism (SNPs) in the
    Conclusions: We identified three SNPs in the
    Language English
    Publishing date 2022-01-14
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2781496-8
    ISSN 2297-055X
    ISSN 2297-055X
    DOI 10.3389/fcvm.2021.809717
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  7. Article ; Online: Pharmacogenetics of Drug-Induced QT Interval Prolongation: An Update.

    Niemeijer, Maartje N / van den Berg, Marten E / Eijgelsheim, Mark / Rijnbeek, Peter R / Stricker, Bruno H

    Drug safety

    2015  Volume 38, Issue 10, Page(s) 855–867

    Abstract: A prolonged QT interval is an important risk factor for ventricular arrhythmias and sudden cardiac death. QT prolongation can be caused by drugs. There are multiple risk factors for drug-induced QT prolongation, including genetic variation. QT ... ...

    Abstract A prolonged QT interval is an important risk factor for ventricular arrhythmias and sudden cardiac death. QT prolongation can be caused by drugs. There are multiple risk factors for drug-induced QT prolongation, including genetic variation. QT prolongation is one of the most common reasons for withdrawal of drugs from the market, despite the fact that these drugs may be beneficial for certain patients and not harmful in every patient. Identifying genetic variants associated with drug-induced QT prolongation might add to tailored pharmacotherapy and prevent beneficial drugs from being withdrawn unnecessarily. In this review, our objective was to provide an overview of the genetic background of drug-induced QT prolongation, distinguishing pharmacokinetic and pharmacodynamic pathways. Pharmacokinetic-mediated genetic susceptibility is mainly characterized by variation in genes encoding drug-metabolizing cytochrome P450 enzymes or drug transporters. For instance, the P-glycoprotein drug transporter plays a role in the pharmacokinetic susceptibility of drug-induced QT prolongation. The pharmacodynamic component of genetic susceptibility is mainly characterized by genes known to be associated with QT interval duration in the general population and genes in which the causal mutations of congenital long QT syndromes are located. Ethnicity influences susceptibility to drug-induced QT interval prolongation, with Caucasians being more sensitive than other ethnicities. Research on the association between pharmacogenetic interactions and clinical endpoints such as sudden cardiac death is still limited. Future studies in this area could enable us to determine the risk of arrhythmias more adequately in clinical practice.
    MeSH term(s) Animals ; Brugada Syndrome/chemically induced ; Brugada Syndrome/genetics ; Cardiac Conduction System Disease ; Drug-Related Side Effects and Adverse Reactions/genetics ; Genetic Variation/genetics ; Humans ; Long QT Syndrome/chemically induced ; Long QT Syndrome/genetics ; Pharmacogenetics/methods
    Language English
    Publishing date 2015-06-24
    Publishing country New Zealand
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1018059-x
    ISSN 1179-1942 ; 0114-5916
    ISSN (online) 1179-1942
    ISSN 0114-5916
    DOI 10.1007/s40264-015-0316-6
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    Zs.A 2127: Show issues Location:
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  8. Article ; Online: Drug- and non-drug-associated QT interval prolongation.

    van Noord, Charlotte / Eijgelsheim, Mark / Stricker, Bruno H Ch

    British journal of clinical pharmacology

    2010  Volume 70, Issue 1, Page(s) 16–23

    Abstract: Sudden cardiac death is among the most common causes of cardiovascular death in developed countries. The majority of sudden cardiac deaths are caused by acute ventricular arrhythmia following repolarization disturbances. An important risk factor for ... ...

    Abstract Sudden cardiac death is among the most common causes of cardiovascular death in developed countries. The majority of sudden cardiac deaths are caused by acute ventricular arrhythmia following repolarization disturbances. An important risk factor for repolarization disturbances is use of QT prolonging drugs, probably partly explained by gene-drug interactions. In this review, we will summarize QT interval physiology, known risk factors for QT prolongation, including drugs and the contribution of pharmacogenetics. The long QT syndrome can be congenital or acquired. The congenital long QT syndrome is caused by mutations in ion channel subunits or regulatory protein coding genes and is a rare monogenic disorder with a mendelian pattern of inheritance. Apart from that, several common genetic variants that are associated with QT interval duration have been identified. Acquired QT prolongation is more prevalent than the congenital form. Several risk factors have been identified with use of QT prolonging drugs as the most frequent cause. Most drugs that prolong the QT interval act by blocking hERG-encoded potassium channels, although some drugs mainly modify sodium channels. Both pharmacodynamic as well as pharmacokinetic mechanisms may be responsible for QT prolongation. Pharmacokinetic interactions often involve drugs that are metabolized by cytochrome P450 enzymes. Pharmacodynamic gene-drug interactions are due to genetic variants that potentiate the QT prolonging effect of drugs. QT prolongation, often due to use of QT prolonging drugs, is a major public health issue. Recently, common genetic variants associated with QT prolongation have been identified. Few pharmacogenetic studies have been performed to establish the genetic background of acquired QT prolongation but additional studies in this newly developing field are warranted.
    MeSH term(s) Death, Sudden, Cardiac/etiology ; Drug Interactions/genetics ; Humans ; Long QT Syndrome/chemically induced ; Long QT Syndrome/genetics ; Potassium Channels, Voltage-Gated/drug effects ; Risk Factors
    Chemical Substances Potassium Channels, Voltage-Gated
    Language English
    Publishing date 2010-07
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 188974-6
    ISSN 1365-2125 ; 0306-5251 ; 0264-3774
    ISSN (online) 1365-2125
    ISSN 0306-5251 ; 0264-3774
    DOI 10.1111/j.1365-2125.2010.03660.x
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    Zs.A 1118: Show issues Location:
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  9. Article: Corrigendum: Normal Values of Corrected Heart-Rate Variability in 10-Second Electrocardiograms for All Ages.

    van den Berg, Marten E / Rijnbeek, Peter R / Niemeijer, Maartje N / Hofman, Albert / van Herpen, Gerard / Bots, Michiel L / Hillege, Hans / Swenne, Cees A / Eijgelsheim, Mark / Stricker, Bruno H / Kors, Jan A

    Frontiers in physiology

    2019  Volume 10, Page(s) 1373

    Abstract: This corrects the article DOI: 10.3389/fphys.2018.00424.]. ...

    Abstract [This corrects the article DOI: 10.3389/fphys.2018.00424.].
    Language English
    Publishing date 2019-11-01
    Publishing country Switzerland
    Document type Published Erratum
    ZDB-ID 2564217-0
    ISSN 1664-042X
    ISSN 1664-042X
    DOI 10.3389/fphys.2019.01373
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  10. Article: Normal Values of Corrected Heart-Rate Variability in 10-Second Electrocardiograms for All Ages.

    van den Berg, Marten E / Rijnbeek, Peter R / Niemeijer, Maartje N / Hofman, Albert / van Herpen, Gerard / Bots, Michiel L / Hillege, Hans / Swenne, Cees A / Eijgelsheim, Mark / Stricker, Bruno H / Kors, Jan A

    Frontiers in physiology

    2018  Volume 9, Page(s) 424

    Abstract: Purpose: ...

    Abstract Purpose:
    Language English
    Publishing date 2018-04-27
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2564217-0
    ISSN 1664-042X
    ISSN 1664-042X
    DOI 10.3389/fphys.2018.00424
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