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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 1396 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.
            Article 0 comments Cited 212 times – based on 0 reviews     Review now
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              Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

              J. Sandhu, Richard T. Hart, Michael C Gorry … (2002)
              Medullary cystic kidney disease 2 (MCKD2) and familial juvenile hyperuricaemic nephropathy (FJHN) are both autosomal dominant renal diseases characterised by juvenile onset of hyperuricaemia, gout, and progressive renal failure. Clinical features of both conditions vary in presence and severity. Often definitive diagnosis is possible only after significant pathology has occurred. Genetic linkage studies have localised genes for both conditions to overlapping regions of chromosome 16p11-p13. These clinical and genetic findings suggest that these conditions may be allelic. To identify the gene and associated mutation(s) responsible for FJHN and MCKD2. Two large, multigenerational families segregating FJHN were studied by genetic linkage and haplotype analyses to sublocalise the chromosome 16p FJHN gene locus. To permit refinement of the candidate interval and localisation of candidate genes, an integrated physical and genetic map of the candidate region was developed. DNA sequencing of candidate genes was performed to detect mutations in subjects affected with FJHN (three unrelated families) and MCKD2 (one family). We identified four novel uromodulin (UMOD) gene mutations that segregate with the disease phenotype in three families with FJHN and in one family with MCKD2. These data provide the first direct evidence that MCKD2 and FJHN arise from mutation of the UMOD gene and are allelic disorders. UMOD is a GPI anchored glycoprotein and the most abundant protein in normal urine. We postulate that mutation of UMOD disrupts the tertiary structure of UMOD and is responsible for the clinical changes of interstitial renal disease, polyuria, and hyperuricaemia found in MCKD2 and FJHN.
              Article 0 comments Cited 112 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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