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      Autosomal dominant tubulointerstitial kidney disease: A review

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          Abstract

          The clinical characteristics of autosomal dominant tubulointerstitial kidney disease (ADTKD) include bland urinary sediment, slowly progressive chronic kidney disease (CKD) with many patients reaching end stage renal disease (ESRD) between age 20 and 70 years, and autosomal dominant inheritance. Due to advances in genetic diagnosis, ADTKD is becoming increasingly recognized as a cause of CKD. Pathogenic variants in UMOD, MUC1, and REN are the most common causes of ADTKD. ADTKD‐ UMOD is also associated with hyperuricemia and gout. ADTKD‐ REN often presents in childhood with mild hypotension, CKD, hyperkalemia, acidosis, and anemia. ADTKD‐ MUC1 patients present only with CKD. This review describes the pathophysiology, genetics, clinical manifestation, and diagnosis for ADTKD, with an emphasis on genetic testing and genetic counseling suggestions for patients.

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          Dapagliflozin in Patients with Chronic Kidney Disease

          Hiddo Heerspink, Bergur Stefánsson, Ricardo Correa-Rotter … (2020)
          Patients with chronic kidney disease have a high risk of adverse kidney and cardiovascular outcomes. The effect of dapagliflozin in patients with chronic kidney disease, with or without type 2 diabetes, is not known.
          Article 0 comments Cited 1424 times – based on 0 reviews     Review now
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            Diagnostic Utility of Exome Sequencing for Kidney Disease

            Emily E Groopman, Maddalena Marasà, Sophia R Cameron-Christie … (2018)
            Exome sequencing is emerging as a first-line diagnostic method in some clinical disciplines, but its usefulness has yet to be examined for most constitutional disorders in adults, including chronic kidney disease, which affects more than 1 in 10 persons globally.
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              Whole-genome sequencing reveals host factors underlying critical COVID-19

              Athanasios Kousathanas, Erola Pairo-Castineira, Konrad Rawlik … (2022)
              Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care 1 or hospitalization 2–4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease.
              Article 0 comments Cited 115 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Anthony J. Bleyer Sr:
                ORCID: https://orcid.org/0000-0002-2804-5273
                ableyer@wakehealth.edu
                Journal
                Journal ID (nlm-ta): Am J Med Genet C Semin Med Genet
                Journal ID (iso-abbrev): Am J Med Genet C Semin Med Genet
                Journal ID (doi): 10.1002/(ISSN)1552-4876
                Journal ID (publisher-id): AJMG
                Title: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
                Publisher: John Wiley & Sons, Inc. (Hoboken, USA )
                ISSN (Print): 1552-4868
                ISSN (Electronic): 1552-4876
                Publication date (Electronic): 17 October 2022
                Publication date (Print): September 2022
                Volume: 190
                Issue: 3 , Genetics of Inherited Kidney Disorders ( doiID: 10.1002/ajmg.c.v190.3 )
                Pages: 309-324
                Affiliations
                [ 1 ] Research Unit of Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University Prague Czech Republic
                [ 2 ] Wake Forest University School of Medicine Section on Nephrology Winston‐Salem North Carolina USA
                Author notes
                [*] [* ] Correspondence

                Anthony J. Bleyer, Sr, Section on Nephrology, Wake Forest University School of Medicine, Medical Center Blvd. Winston‐Salem, NC 27157, USA.

                Email: ableyer@ 123456wakehealth.edu

                Author information
                https://orcid.org/0000-0002-2804-5273
                Article
                Publisher ID: AJMGC32008
                DOI: 10.1002/ajmg.c.32008
                PMC ID: 9619361
                PubMed ID: 36250282
                SO-VID: 189db6d8-101b-47dd-bcac-d0cec997779d
                Copyright © © 2022 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC.
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

                History
                Date revision received : 10 September 2022
                Date received : 03 June 2022
                Date accepted : 29 September 2022
                Page count
                Figures: 4, Tables: 1, Pages: 16, Words: 14626
                Funding
                Funded by: Black‐Brogan Foundation
                Funded by: CKD Biomarkers Consortium Pilot and Feasibility Studies Program funded by the NIH‐NIDDK
                Funded by: Ministerstvo Zdravotnictví Ceské Republiky , doi 10.13039/501100003243;
                Funded by: Ministry of Education of the Czech Republic
                Funded by: National Center for Medical Genomics
                Funded by: National Institute for Treatment of Metabolic and Cardiovascular Diseases
                Funded by: NIH‐NIDDK
                Funded by: Slim Health Foundation
                Funded by: Soli Deo Gloria
                Funded by: Univerzita Karlova v Praze , doi 10.13039/100007397;
                Categories
                Subject: Review Article
                Subject: Review Articles
                Custom metadata
                source-schema-version-number 2.0
                cover-date September 2022
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_JATSPMC version:6.2.3 mode:remove_FC converted:09.01.2023

                Keywords: autosomal dominant tubulointerstitial kidney disease,muc1,umod,ren
                Data availability:
                Keywords: autosomal dominant tubulointerstitial kidney disease, muc1, umod, ren

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