Literature DB >> 25168494

Autosomal dominant tubulointerstitial kidney disease: of names and genes.

Anthony J Bleyer1, Stanislav Kmoch2.   

Abstract

Autosomal dominant tubulointerstitial kidney disease (ADTKD) refers to a group of conditions characterized by autosomal dominant inheritance, a bland urinary sediment with minimal blood and protein, pathologic changes of tubular and interstitial fibrosis, and slowly progressive chronic kidney disease. This commentary discusses recent advances in our medical knowledge of these conditions, including the recent identification of mutations in the MUC1 gene as a cause of ADTKD and changes in terminology proposed by Ekici et al.

Entities:  

Mesh:

Substances:

Year:  2014        PMID: 25168494     DOI: 10.1038/ki.2014.125

Source DB:  PubMed          Journal:  Kidney Int        ISSN: 0085-2538            Impact factor:   10.612


  9 in total

Review 1.  From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis.

Authors:  Gopalakrishnan Venkat-Raman; Christine Gast; Anthony Marinaki; Lynnette Fairbanks
Journal:  Pediatr Nephrol       Date:  2016-02-12       Impact factor: 3.714

2.  Evaluation of Genetic Kidney Diseases in Living Donor Kidney Transplantation: Towards Precision Genomic Medicine in Donor Risk Assessment.

Authors:  Yasar Caliskan; Brian Lee; Adrian Whelan; Fadee Abualrub; Krista L Lentine; Arksarapuk Jittirat
Journal:  Curr Transplant Rep       Date:  2022-03-16

3.  Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

Authors:  Martina Živná; Kendrah Kidd; Anna Přistoupilová; Veronika Barešová; Mathew DeFelice; Brendan Blumenstiel; Maegan Harden; Peter Conlon; Peter Lavin; Dervla M Connaughton; Hana Hartmannová; Kateřina Hodaňová; Viktor Stránecký; Alena Vrbacká; Petr Vyleťal; Jan Živný; Miroslav Votruba; Jana Sovová; Helena Hůlková; Victoria Robins; Rebecca Perry; Andrea Wenzel; Bodo B Beck; Tomáš Seeman; Ondřej Viklický; Sylvie Rajnochová-Bloudíčková; Gregory Papagregoriou; Constantinos C Deltas; Seth L Alper; Anna Greka; Anthony J Bleyer; Stanislav Kmoch
Journal:  J Am Soc Nephrol       Date:  2018-07-02       Impact factor: 10.121

4.  Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

Authors:  Kai-Uwe Eckardt; Seth L Alper; Corinne Antignac; Anthony J Bleyer; Dominique Chauveau; Karin Dahan; Constantinos Deltas; Andrew Hosking; Stanislav Kmoch; Luca Rampoldi; Michael Wiesener; Matthias T Wolf; Olivier Devuyst
Journal:  Kidney Int       Date:  2015-03-04       Impact factor: 10.612

5.  Endothelin 1 gene is not a major modifier of chronic kidney disease advancement among the autosomal dominant polycystic kidney disease patients.

Authors:  Shiva Nagendra Reddy Annapareddy; Ramprasad Elumalai; Bhaskar V K S Lakkakula; Gnanasambandan Ramanathan; Soundararajan Periyasamy
Journal:  J Nephropharmacol       Date:  2015-12-09

6.  Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.

Authors:  Nikhita Ajit Bolar; Christelle Golzio; Martina Živná; Gaëlle Hayot; Christine Van Hemelrijk; Dorien Schepers; Geert Vandeweyer; Alexander Hoischen; Jeroen R Huyghe; Ann Raes; Erve Matthys; Emiel Sys; Myriam Azou; Marie-Claire Gubler; Marleen Praet; Guy Van Camp; Kelsey McFadden; Igor Pediaditakis; Anna Přistoupilová; Kateřina Hodaňová; Petr Vyleťal; Hana Hartmannová; Viktor Stránecký; Helena Hůlková; Veronika Barešová; Ivana Jedličková; Jana Sovová; Aleš Hnízda; Kendrah Kidd; Anthony J Bleyer; Richard S Spong; Johan Vande Walle; Geert Mortier; Han Brunner; Lut Van Laer; Stanislav Kmoch; Nicholas Katsanis; Bart L Loeys
Journal:  Am J Hum Genet       Date:  2016-07-07       Impact factor: 11.025

7.  Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease.

Authors:  L B Lopes; C C Abreu; C F Souza; L E R Guimaraes; A A Silva; F Aguiar-Alves; K O Kidd; S Kmoch; A J Bleyer; J R Almeida
Journal:  Braz J Med Biol Res       Date:  2018-03-01       Impact factor: 2.590

8.  Mucin-1 Gene Mutation and the Kidney: The Link between Autosomal Dominant Tubulointerstitial Kidney Disease and Focal and Segmental Glomerulosclerosis.

Authors:  H Trimarchi; M Paulero; T Rengel; I González-Hoyos; M Forrester; F Lombi; V Pomeranz; R Iriarte; A Iotti
Journal:  Case Rep Nephrol       Date:  2018-07-31

9.  Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.

Authors:  S Cormican; D M Connaughton; C Kennedy; S Murray; M Živná; S Kmoch; N K Fennelly; P O'Kelly; K A Benson; E T Conlon; G Cavalleri; C Foley; B Doyle; A Dorman; M A Little; P Lavin; K Kidd; A J Bleyer; P J Conlon
Journal:  Ren Fail       Date:  2019-11       Impact factor: 2.606

  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.