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Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome

Authors
 Ashish K. Solanki  ;  Eugen Widmeier  ;  Ehtesham Arif  ;  Shailza Sharma  ;  Ankana Daga  ;  Pankaj Srivastava  ;  Sang-Ho Kwon  ;  Hannah Hugo  ;  Makiko Nakayama  ;  Nina Mann  ;  Amar J. Majmundar  ;  Wei Tan  ;  Heon Yung Gee  ;  Caroline E. Sadowski  ;  Choni Rinat  ;  Rachel Becker-Cohen  ;  Carsten Bergmann  ;  Seymour Rosen  ;  Michael Somers  ;  Shirlee Shril  ;  Tobias B. Huber  ;  Shrikant Mane  ;  Friedhelm Hildebrandt  ;  Deepak Nihalani 
Citation
 KIDNEY INTERNATIONAL, Vol.96(4) : 883-889, 2019 
Journal Title
 KIDNEY INTERNATIONAL 
ISSN
 0085-2538 
Issue Date
2019
Keywords
KIRREL1 ; focal segmental glomerulosclerosis ; minimal change disease ; steroid-resistant nephrotic syndrome
Abstract
Steroid-resistant nephrotic syndrome is a frequent cause of chronic kidney disease almost inevitably progressing to end-stage renal disease. More than 58 monogenic causes of SRNS have been discovered and majority of known steroid-resistant nephrotic syndrome causing genes are predominantly expressed in glomerular podocytes, placing them at the center of disease pathogenesis. Herein, we describe two unrelated families with steroid-resistant nephrotic syndrome with homozygous mutations in the KIRREL1 gene. One mutation showed high frequency in the European population (minor allele frequency 0.0011) and this patient achieved complete remission following treatment, but later progressed to chronic kidney disease. We found that mutant KIRREL1 proteins failed to localize to the podocyte cell membrane, indicating defective trafficking and impaired podocytes function. Thus, the KIRREL1 gene product has an important role in modulating the integrity of the slit diaphragm and maintaining glomerular filtration function.
Full Text
https://www.sciencedirect.com/science/article/pii/S0085253819307033
DOI
10.1016/j.kint.2019.06.016
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
Yonsei Authors
Gee, Heon Yung(지헌영) ORCID logo https://orcid.org/0000-0002-8741-6177
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/173250
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