Literature DB >> 28711074

Hereditary Renal Diseases.

Lakshmi Mehta1, Belinda Jim2.   

Abstract

Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract. We provide the nephrologist with a general strategy to approach hereditary disorders, which includes a discussion of commonly used genetic tests, a guide to genetic counseling, and reproductive options such as prenatal diagnosis or pre-implantation genetic diagnosis for at-risk couples. Finally, we review pregnancy outcomes in certain renal diseases.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Hereditary renal disease; genetic counseling; pre-implantation genetic diagnosis

Mesh:

Year:  2017        PMID: 28711074     DOI: 10.1016/j.semnephrol.2017.05.007

Source DB:  PubMed          Journal:  Semin Nephrol        ISSN: 0270-9295            Impact factor:   5.299


  8 in total

Review 1.  The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.

Authors:  Aaron L Fidler; Sergei P Boudko; Antonis Rokas; Billy G Hudson
Journal:  J Cell Sci       Date:  2018-04-09       Impact factor: 5.285

2.  COL4A4 variant recently identified: lessons learned in variant interpretation-a case report.

Authors:  Jenelle Cocorpus; Megan M Hager; Corinne Benchimol; Vanesa Bijol; Fadi Salem; Sumit Punj; Laura Castellanos; Pamela Singer; Christine B Sethna; Abby Basalely
Journal:  BMC Nephrol       Date:  2022-07-16       Impact factor: 2.585

3.  Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report.

Authors:  Jia-Xi Fang; Jin-Shi Zhang; Min-Min Wang; Lin Liu
Journal:  World J Clin Cases       Date:  2022-07-16       Impact factor: 1.534

Review 4.  Genetic Kidney Diseases (GKDs) Modeling Using Genome Editing Technologies.

Authors:  Fernando Gómez-García; Raquel Martínez-Pulleiro; Noa Carrera; Catarina Allegue; Miguel A Garcia-Gonzalez
Journal:  Cells       Date:  2022-05-06       Impact factor: 7.666

Review 5.  Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT).

Authors:  Asha N Talati; Carolyn M Webster; Neeta L Vora
Journal:  Prenat Diagn       Date:  2019-08-05       Impact factor: 3.050

Review 6.  How Genetics Can Improve Clinical Practice in Chronic Kidney Disease: From Bench to Bedside.

Authors:  Doloretta Piras; Nicola Lepori; Gianfranca Cabiddu; Antonello Pani
Journal:  J Pers Med       Date:  2022-01-31

Review 7.  Management of delivery of a fetus with autosomal recessive polycystic kidney disease: a case report of abdominal dystocia and review of the literature.

Authors:  Sarah Belin; Cristina Delco; Paloma Parvex; Sylviane Hanquinet; Siv Fokstuen; Begoña Martinez de Tejada; Isabelle Eperon
Journal:  J Med Case Rep       Date:  2019-12-12

8.  Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.

Authors:  Jiyoung Oh; Jae Il Shin; Keumwha Lee; CheolHo Lee; Younhee Ko; Jin-Sung Lee
Journal:  Clin Genet       Date:  2020-12-07       Impact factor: 4.438

  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.