Literature DB >> 33084934

Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood.

Stephanie Dufek-Kamperis1,2, Robert Kleta3,4, Detlef Bockenhauer3,4, Daniel Gale3, Mallory L Downie3,4.   

Abstract

Steroid-sensitive nephrotic syndrome (SSNS) is the most common form of nephrotic syndrome in childhood and there is growing evidence that genetics play a role in the susceptibility for the disease. Familial clustering has been observed and has led to several studies on familial SSNS trying to identify a monogenic cause of the disease. Until now, however, none of these have provided convincing evidence for Mendelian inheritance. This and the phenotypic variability within SSNS suggest a complex inheritance pattern, where multiple variants and interactions between those and the environment play roles in disease development. Genome-wide association studies (GWASs) have been used to investigate this complex disease. We herein highlight new insights in the genetics of the disease provided by GWAS and identify how these insights fit into our understanding of the pathogenesis of SSNS.

Entities:  

Keywords:  CALHM6; GWAS; Genetics; HLA; Paediatrics; SSNS; Steroid-sensitive nephrotic syndrome

Mesh:

Substances:

Year:  2020        PMID: 33084934     DOI: 10.1007/s00467-020-04780-4

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN: 0931-041X            Impact factor:   3.714


  30 in total

Review 1.  Focal segmental glomerulosclerosis.

Authors:  Vivette D D'Agati; Frederick J Kaskel; Ronald J Falk
Journal:  N Engl J Med       Date:  2011-12-22       Impact factor: 91.245

Review 2.  Nephrotic syndrome in infants and children: pathophysiology and management.

Authors:  Mallory L Downie; Claire Gallibois; Rulan S Parekh; Damien G Noone
Journal:  Paediatr Int Child Health       Date:  2017-09-15       Impact factor: 1.990

3.  Focal and segmental glomerulosclerosis in children: a longitudinal assessment.

Authors:  Olivia Boyer; Janelle K Moulder; Michael J G Somers
Journal:  Pediatr Nephrol       Date:  2007-04-17       Impact factor: 3.714

4.  High incidence of focal segmental glomerulosclerosis in nephrotic syndrome of childhood.

Authors:  T Srivastava; S D Simon; U S Alon
Journal:  Pediatr Nephrol       Date:  1999-01       Impact factor: 3.714

5.  Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.

Authors:  Stephanie Dufek; Chris Cheshire; Adam P Levine; Richard S Trompeter; Naomi Issler; Matthew Stubbs; Monika Mozere; Sanjana Gupta; Enriko Klootwijk; Vaksha Patel; Daljit Hothi; Aoife Waters; Hazel Webb; Kjell Tullus; Lucy Jenkins; Lighta Godinho; Elena Levtchenko; Jack Wetzels; Nine Knoers; Nynke Teeninga; Jeroen Nauta; Mohamed Shalaby; Sherif Eldesoky; Jameela A Kari; Shenal Thalgahagoda; Randula Ranawaka; Asiri Abeyagunawardena; Adebowale Adeyemo; Mark Kristiansen; Rasheed Gbadegesin; Nicholas J Webb; Daniel P Gale; Horia C Stanescu; Robert Kleta; Detlef Bockenhauer
Journal:  J Am Soc Nephrol       Date:  2019-07-01       Impact factor: 10.121

6.  Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.

Authors:  Hanna Debiec; Claire Dossier; Eric Letouzé; Christopher E Gillies; Marina Vivarelli; Rosemary K Putler; Elisabet Ars; Evelyne Jacqz-Aigrain; Valery Elie; Manuela Colucci; Stéphanie Debette; Philippe Amouyel; Siham C Elalaoui; Abdelaziz Sefiani; Valérie Dubois; Tabassome Simon; Matthias Kretzler; Jose Ballarin; Francesco Emma; Matthew G Sampson; Georges Deschênes; Pierre Ronco
Journal:  J Am Soc Nephrol       Date:  2018-06-14       Impact factor: 10.121

7.  Ethnic Differences in Incidence and Outcomes of Childhood Nephrotic Syndrome.

Authors:  Tonny H M Banh; Neesha Hussain-Shamsy; Viral Patel; Jovanka Vasilevska-Ristovska; Karlota Borges; Cathryn Sibbald; Deborah Lipszyc; Josefina Brooke; Denis Geary; Valerie Langlois; Michele Reddon; Rachel Pearl; Leo Levin; Monica Piekut; Christoph P B Licht; Seetha Radhakrishnan; Kimberly Aitken-Menezes; Elizabeth Harvey; Diane Hebert; Tino D Piscione; Rulan S Parekh
Journal:  Clin J Am Soc Nephrol       Date:  2016-07-21       Impact factor: 8.237

8.  Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population.

Authors:  Xiaoyuan Jia; Tomoko Horinouchi; Yuki Hitomi; Akemi Shono; Seik-Soon Khor; Yosuke Omae; Kaname Kojima; Yosuke Kawai; Masao Nagasaki; Yoshitsugu Kaku; Takayuki Okamoto; Yoko Ohwada; Kazuhide Ohta; Yusuke Okuda; Rika Fujimaru; Ken Hatae; Naonori Kumagai; Emi Sawanobori; Hitoshi Nakazato; Yasufumi Ohtsuka; Koichi Nakanishi; Yuko Shima; Ryojiro Tanaka; Akira Ashida; Koichi Kamei; Kenji Ishikura; Kandai Nozu; Katsushi Tokunaga; Kazumoto Iijima
Journal:  J Am Soc Nephrol       Date:  2018-07-16       Impact factor: 10.121

Review 9.  Benefits and limitations of genome-wide association studies.

Authors:  Vivian Tam; Nikunj Patel; Michelle Turcotte; Yohan Bossé; Guillaume Paré; David Meyre
Journal:  Nat Rev Genet       Date:  2019-08       Impact factor: 53.242

10.  Response to First Course of Intensified Immunosuppression in Genetically Stratified Steroid Resistant Nephrotic Syndrome.

Authors:  Anna E Mason; Ethan S Sen; Agnieszka Bierzynska; Elizabeth Colby; Maryam Afzal; Guillaume Dorval; Ania B Koziell; Maggie Williams; Olivia Boyer; Gavin I Welsh; Moin A Saleem
Journal:  Clin J Am Soc Nephrol       Date:  2020-04-21       Impact factor: 8.237

View more
  3 in total

Review 1.  B-Cell Dysregulation in Idiopathic Nephrotic Syndrome: What We Know and What We Need to Discover.

Authors:  Manuela Colucci; Julie Oniszczuk; Marina Vivarelli; Vincent Audard
Journal:  Front Immunol       Date:  2022-01-24       Impact factor: 7.561

Review 2.  Therapeutic trials in difficult to treat steroid sensitive nephrotic syndrome: challenges and future directions.

Authors:  Ashlene M McKay; Rulan S Parekh; Damien Noone
Journal:  Pediatr Nephrol       Date:  2022-04-28       Impact factor: 3.651

Review 3.  An updated view of the pathogenesis of steroid-sensitive nephrotic syndrome.

Authors:  Tomoko Horinouchi; Kandai Nozu; Kazumoto Iijima
Journal:  Pediatr Nephrol       Date:  2022-01-10       Impact factor: 3.651

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.