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  1. Article ; Online: VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease

    Hassan Saei / Vincent Morinière / Laurence Heidet / Olivier Gribouval / Said Lebbah / Frederic Tores / Manon Mautret-Godefroy / Bertrand Knebelmann / Stéphane Burtey / Vincent Vuiblet / Corinne Antignac / Patrick Nitschké / Guillaume Dorval

    iScience, Vol 26, Iss 7, Pp 107171- (2023)

    2023  

    Abstract: Summary: The human genome comprises approximately 3% of tandem repeats with variable length (VNTR), a few of which have been linked to human rare diseases. Autosomal dominant tubulointerstitial kidney disease—MUC1 (ADTKD-MUC1) is caused by specific ... ...

    Abstract Summary: The human genome comprises approximately 3% of tandem repeats with variable length (VNTR), a few of which have been linked to human rare diseases. Autosomal dominant tubulointerstitial kidney disease—MUC1 (ADTKD-MUC1) is caused by specific frameshift variants in the coding VNTR of the MUC1 gene. Calling variants from VNTR using short-read sequencing (SRS) is challenging due to poor read mappability. We developed a computational pipeline, VNtyper, for reliable detection of MUC1 VNTR pathogenic variants and demonstrated its clinical utility in two distinct cohorts: (1) a historical cohort including 108 families with ADTKD and (2) a replication naive cohort comprising 2,910 patients previously tested on a panel of genes involved in monogenic renal diseases. In the historical cohort all cases known to carry pathogenic MUC1 variants were re-identified, and a new 25bp-frameshift insertion in an additional mislaid family was detected. In the replication cohort, we discovered and validated 30 new patients.
    Keywords Genetics ; Genomics ; Techniques in genetics ; Genotyping ; Science ; Q
    Language English
    Publishing date 2023-07-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy

    Stefania Drovandi / Francesca Lugani / Olivia Boyer / Edoardo La Porta / Paolo Giordano / Aurélie Hummel / Bertrand Knebelmann / Joséphine Cornet / Genevieve Baujat / Beata S. Lipska-Ziętkiewicz / Gian Marco Ghiggeri / Gianluca Caridi / Andrea Angeletti

    Journal of Clinical Medicine, Vol 11, Iss 15, p

    Novel Variants of MAFB Gene and Literature Review

    2022  Volume 4423

    Abstract: Multicentric carpo-tarsal osteolysis (MCTO) is a rare osteolysis syndrome mainly involving carpal and tarsal bones usually presenting in early childhood. MCTO has autosomal dominant inheritance with heterozygous mutation in the MAFB gene. The skeletal ... ...

    Abstract Multicentric carpo-tarsal osteolysis (MCTO) is a rare osteolysis syndrome mainly involving carpal and tarsal bones usually presenting in early childhood. MCTO has autosomal dominant inheritance with heterozygous mutation in the MAFB gene. The skeletal disorder is often associated with chronic kidney disease. Data on clinical characterization and best treatment option of MCTO-associated nephropathy are scarce and mostly limited to case reports. With the aim to better define the phenotype and long-term outcomes of MCTO-associated nephropathy, we launched an online survey through the Workgroup for hereditary glomerulopathies of the European Rare Kidney Disease Network (ERKNet). Overall, we collected clinical and genetic data of 54 MCTO patients, of which 42 previously described and 12 new patients. We observed a high rate of kidney involvement (70%), early age of kidney disease onset, nephrotic-range proteinuria, and a kidney survival around of 40% at long-term follow-up. Our finding confirmed the heterogeneity of clinical manifestations and widen the spectrum of phenotypes resulting from MCTO-associated nephropathy. Furthermore, we report the first case of complete remission after treatment with cyclosporine A. We demonstrated that multidisciplinary care is essential for MCTO patients and early referral to nephrologists is therefore warranted to facilitate prompt treatment.
    Keywords multicentric carpotarsal syndrome ; monogenic kidney disease ; hereditary podocytopathy ; glomerulonephritis ; nephrotic syndrome ; renal failure ; Medicine ; R
    Subject code 616
    Language English
    Publishing date 2022-07-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Diagnosis support systems for rare diseases

    Carole Faviez / Xiaoyi Chen / Nicolas Garcelon / Antoine Neuraz / Bertrand Knebelmann / Rémi Salomon / Stanislas Lyonnet / Sophie Saunier / Anita Burgun

    Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-

    a scoping review

    2020  Volume 16

    Abstract: Abstract Introduction Rare diseases affect approximately 350 million people worldwide. Delayed diagnosis is frequent due to lack of knowledge of most clinicians and a small number of expert centers. Consequently, computerized diagnosis support systems ... ...

    Abstract Abstract Introduction Rare diseases affect approximately 350 million people worldwide. Delayed diagnosis is frequent due to lack of knowledge of most clinicians and a small number of expert centers. Consequently, computerized diagnosis support systems have been developed to address these issues, with many relying on rare disease expertise and taking advantage of the increasing volume of generated and accessible health-related data. Our objective is to perform a review of all initiatives aiming to support the diagnosis of rare diseases. Methods A scoping review was conducted based on methods proposed by Arksey and O’Malley. A charting form for relevant study analysis was developed and used to categorize data. Results Sixty-eight studies were retained at the end of the charting process. Diagnosis targets varied from 1 rare disease to all rare diseases. Material used for diagnosis support consisted mostly of phenotype concepts, images or fluids. Fifty-seven percent of the studies used expert knowledge. Two-thirds of the studies relied on machine learning algorithms, and one-third used simple similarities. Manual algorithms were encountered as well. Most of the studies presented satisfying performance of evaluation by comparison with references or with external validation. Fourteen studies provided online tools, most of which aimed to support the diagnosis of all rare diseases by considering queries based on phenotype concepts. Conclusion Numerous solutions relying on different materials and use of various methodologies are emerging with satisfying preliminary results. However, the variability of approaches and evaluation processes complicates the comparison of results. Efforts should be made to adequately validate these tools and guarantee reproducibility and explicability.
    Keywords Scoping review ; Rare disease ; Genetic diseases ; Diagnosis ; Clinical decision support ; Artificial intelligence ; Medicine ; R
    Subject code 006
    Language English
    Publishing date 2020-04-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: Screening for Unruptured Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease

    Adrien Flahault / Denis Trystram / Marie Fouchard / Bertrand Knebelmann / François Nataf / Dominique Joly

    PLoS ONE, Vol 11, Iss 4, p e

    A Survey of 420 Nephrologists.

    2016  Volume 0153176

    Abstract: BACKGROUND:Despite a high prevalence of intracranial aneurysm (ICA) in autosomal dominant polycystic kidney disease (ADPKD), rupture events are rare. The current recommendations for ICA screening are based on expert opinions and studies with low levels ... ...

    Abstract BACKGROUND:Despite a high prevalence of intracranial aneurysm (ICA) in autosomal dominant polycystic kidney disease (ADPKD), rupture events are rare. The current recommendations for ICA screening are based on expert opinions and studies with low levels of evidence. OBJECTIVES:The aim of our study was to describe the attitudes of practicing nephrologists in Europe towards screening for ICA using magnetic resonance angiography (MRA). METHODS:We conducted a web-based survey among 1315 European French-speaking nephrologists and nephrology residents. An anonymous, electronic questionnaire including 24 independent questions related to ICA screening modalities, indications and participant profiles was sent by email between September and December 2014. Four hundred and twenty nephrologists (mostly from France) participated, including 31 nephrology residents; the response rate was 32%. RESULTS:Systematic screening for ICA was advocated by 28% of the nephrologists. A family history of ICA rupture, sudden death, stroke and migraine were consensual indications for screening (> 90% of the panel). In other clinical situations largely not covered by the recommendations (pregnancy, nephrectomy, kidney transplantation, cardiac or hepatic surgery, uncontrolled hypertension, lack of familial ADPKD history, at-risk activity, tobacco use), the attitudes towards screening were highly divergent. ICA screening was influenced by nephrologists experience with ADPKD and by their practice setting. The majority of participants (57%) would not repeat a normal ICA screening. Only a few participants (22%) knew that non-contrast MRA was the reference diagnostic tool for ICA screening, whereas most participants thought that contrast enhancement was necessary to screen for ICA. The results from the nephrology residents were analyzed separately and yielded similar results. CONCLUSION:This practice survey revealed that most nephrologists follow the current recommendations for the initial screening of ICAs. However, more than a quarter of the ...
    Keywords Medicine ; R ; Science ; Q
    Language English
    Publishing date 2016-01-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Erythrocytosis associated with IgA nephropathy

    Camille Cohen / Séverine Coulon / Kanit Bhukhai / Antoine Neuraz / Michael Dussiot / Guillemette Fouquet / Marie-Bénédicte Le Stang / Martin Flamant / François Vrtovsnik / Aurélie Hummel / Bertrand Knebelmann / Laurent Mesnard / Eric Rondeau / Thiago T. Maciel / Fabrizia Favale / Nicole Casadevall / Thao Nguyen-Khoa / Stéphane Moutereau / Christophe Legendre /
    Marc Benhamou / Renato C. Monteiro / Olivier Hermine / Khalil El Karoui / Ivan C. Moura

    EBioMedicine, Vol 75, Iss , Pp 103785- (2022)

    2022  

    Abstract: Summary: Background: Erythrocytosis is a hematological disorder usually related to hematopoietic stem cell somatic mutations. However, unexplained erythrocytosis remains frequent. In this study, we evaluated the involvement of IgA1, a regulator of ... ...

    Abstract Summary: Background: Erythrocytosis is a hematological disorder usually related to hematopoietic stem cell somatic mutations. However, unexplained erythrocytosis remains frequent. In this study, we evaluated the involvement of IgA1, a regulator of erythropoiesis also implicated in IgA nephropathy (IgAN) pathophysiology, in unexplained polycythemia/erythrocytosis (PE) of IgAN patients. Methods: IgAN-PE patients’ serum was collected, analyzed and used to study IgA1 effect on proliferation and differentiation of erythroid progenitors. Hematological parameters of transgenic mice for human alpha1 heavy chain were studied. Multicentric observational cohorts of chronic kidney disease (CKD) patients, including both native kidney diseases and renal transplants, were studied to analyze patient hemoglobin levels. Findings: We retrospectively identified 6 patients with IgAN and unexplained PE. In large CKD cohorts, IgAN was associated with PE in 3.5% of patients (p<0.001 compared to other nephropathies). IgAN was an independent factor associated with higher hemoglobin levels (13.1g/dL vs 12.2 g/dL, p=0.01). During post-transplant anemia, anemia recovery was faster in IgAN patients. Elevated polymeric/monomeric IgA1 ratio as well as high Gd-IgA1 rate were observed in circulating IgA1 of the 6 IgAN-PE patients as compared with control or IgAN patients without PE. IgA1 from these patients increased the sensitivity of erythroid progenitors to Epo. In mice, we also observed an elevation of hematocrit in alpha1 knock-in mice compared to wild type controls. Interpretation: These data identify a new etiology of erythrocytosis and demonstrate the role of pIgA1 in human erythropoiesis. This syndrome of IgA-related erythrocytosis should be investigated in case of unexplained erythrocytosis and renal disease. Funding: This work was supported by INSERM (French national institute for health and medical research), Labex GRex and Imagine Institute (Paris, France)
    Keywords IgA ; IgA nephropathy ; Erythrocytosis ; Polycythemia ; Medicine ; R ; Medicine (General) ; R5-920
    Subject code 616 ; 610
    Language English
    Publishing date 2022-01-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article ; Online: Glomerular endothelial cell senescence drives age‐related kidney disease through PAI‐1

    Camille Cohen / Océane Le Goff / Frédéric Soysouvanh / Florence Vasseur / Marine Tanou / Clément Nguyen / Lucile Amrouche / Julien Le Guen / Oriana Saltel‐Fulero / Tanguy Meunier / Thao Nguyen‐Khoa / Marion Rabant / Dominique Nochy / Christophe Legendre / Gérard Friedlander / Bennett G Childs / Daren J Baker / Bertrand Knebelmann / Dany Anglicheau /
    Fabien Milliat / Fabiola Terzi

    EMBO Molecular Medicine, Vol 13, Iss 11, Pp n/a-n/a (2021)

    2021  

    Abstract: Abstract The mechanisms underlying the development of glomerular lesions during aging are largely unknown. It has been suggested that senescence might play a role, but the pathophysiological link between senescence and lesion development remains ... ...

    Abstract Abstract The mechanisms underlying the development of glomerular lesions during aging are largely unknown. It has been suggested that senescence might play a role, but the pathophysiological link between senescence and lesion development remains unexplained. Here, we uncovered an unexpected role for glomerular endothelial cells during aging. In fact, we discovered a detrimental cross‐talk between senescent endothelial cells and podocytes, through PAI‐1. In vivo, selective inactivation of PAI‐1 in endothelial cells protected glomeruli from lesion development and podocyte loss in aged mice. In vitro, blocking PAI‐1 in supernatants from senescent endothelial cells prevented podocyte apoptosis. Consistently, depletion of senescent cells prevented podocyte loss in old p16 INK‐ATTAC transgenic mice. Importantly, these experimental findings are relevant to humans. We showed that glomerular PAI‐1 expression was predictive of poor outcomes in transplanted kidneys from elderly donors. In addition, we observed that in elderly patients, urinary PAI‐1 was associated with age‐related chronic kidney disease. Altogether, these results uncover a novel mechanism of kidney disease and identify PAI‐1 as a promising biomarker of kidney dysfunction in allografts from elderly donors.
    Keywords aging nephropathy ; endothelial–podocyte cross‐talk ; kidney transplantation ; PAI‐1 ; senescence ; Medicine (General) ; R5-920 ; Genetics ; QH426-470
    Language English
    Publishing date 2021-11-01T00:00:00Z
    Publisher Wiley
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article ; Online: Patient-reported outcome measures for pain in autosomal dominant polycystic kidney disease

    Patrizia Natale / Elyssa Hannan / Bénédicte Sautenet / Angela Ju / Ronald D Perrone / Eva Burnette / Niek Casteleijn / Arlene Chapman / Sarah Eastty / Ron Gansevoort / Marie Hogan / Shigeo Horie / Bertrand Knebelmann / Richard Lee / Reem A Mustafa / Richard Sandford / Amanda Baumgart / Allison Tong / Giovanni F M Strippoli /
    Jonathan C Craig / Gopala K Rangan / Yeoungjee Cho

    PLoS ONE, Vol 16, Iss 5, p e

    A systematic review.

    2021  Volume 0252479

    Abstract: Pain is a common symptom in people with autosomal dominant polycystic kidney disease (ADPKD), but it is assessed and reported inconsistently in research, and the validity of the measures remain uncertain. The aim of this study was to identify the ... ...

    Abstract Pain is a common symptom in people with autosomal dominant polycystic kidney disease (ADPKD), but it is assessed and reported inconsistently in research, and the validity of the measures remain uncertain. The aim of this study was to identify the characteristics, content, and psychometric properties of measures for pain used in ADPKD. We conducted a systematic review including all trials and observational studies that reported pain in people with ADPKD. Items from all measures were categorized into content and measurement dimensions of pain. We assessed the general characteristics and psychometric properties of all measures. 118 studies, we identified 26 measures: 12 (46%) measures were developed for a non-ADPKD population, 1 (4%) for chronic kidney disease, 2 (8%) for polycystic liver disease and 11 (42%) specifically for ADPKD. Ten anatomical sites were included, with the lower back the most common (10 measures [39%]), four measurement dimensions (intensity (23 [88%]), frequency (3 [12%]), temporality (2 [8%]), and sensory (21 [81%]), two pain types, nociceptive including visceral (15 [58%]) and somatic (5 [20%]), and neuropathic (2 [8%]), and twelve impact dimensions, where the most frequent was work (5 [31%]). The validation data for the measures were variable and only the ADPKD Impact Scale reported all psychometric domains. The measures for pain in ADPKD varied in terms of content and length, and most had not been validated in ADPKD. A standardized psychometrically robust measure that captures patient-important dimensions of pain is needed to evaluate and manage this debilitating complication of ADPKD.
    Keywords Medicine ; R ; Science ; Q
    Subject code 001
    Language English
    Publishing date 2021-01-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  8. Article ; Online: Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2

    Khalil El Karoui / Amandine Viau / Olivier Dellis / Alessia Bagattin / Clément Nguyen / William Baron / Martine Burtin / Mélanie Broueilh / Laurence Heidet / Géraldine Mollet / Anne Druilhe / Corinne Antignac / Bertrand Knebelmann / Gérard Friedlander / Frank Bienaimé / Morgan Gallazzini / Fabiola Terzi

    Nature Communications, Vol 7, Iss 1, Pp 1-

    2016  Volume 13

    Abstract: Proteinuria promotes chronic kidney disease progression. Karoui et al. show that proteinuria stimulates overexpression of iron transporting protein lipocalin-2 via Ca2+release-induced ER stress, which leads to tubular apoptosis, and that inhibition of ... ...

    Abstract Proteinuria promotes chronic kidney disease progression. Karoui et al. show that proteinuria stimulates overexpression of iron transporting protein lipocalin-2 via Ca2+release-induced ER stress, which leads to tubular apoptosis, and that inhibition of this pathway by PBA delays renal deterioration in proteinuric mice.
    Keywords Science ; Q
    Language English
    Publishing date 2016-01-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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