Sepideh Zununi Vahed
1 
, Hakimeh Moghaddas Sani
1,2 , Sima Rajabzadeh
1, Ziba Nariman-Saleh-Fam
3 , Mina Hejazian
1, Fatemeh Zununi Vahed
1, Seyed Mahdi Hosseiniyan Khatibi
1, Mohammadali Mohajel Shoja
4, Mohammadreza Ardalan
1* 1 Kidney Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
2 School of Life and Environmental Sciences, University of Sydney, New South Wales 2006, Australia
3 Women’s Reproductive Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
4 Department of Surgery, University of Texas Medical Branch, Galveston, TX, USA
Abstract
Steroid-resistant nephrotic syndrome (SRNS) is a challenging clinical task. It has
heterogeneous etiology and extremely variable clinical outcomes and generally progresses
to end-stage renal disease (ESRD). Different gene mutations in podocyte’s slit diaphragm,
mitochondria, and cytoskeleton proteins, as well as glomerular basement membrane (GBM)
have been associated with SRNS. These proteins regulate the function of the glomerular
filtration barrier. Advances in genetic approaches and podocytology have led to discover the
SRNS-causing genes that lead to a better understanding of the drug resistance. More than 45
genetic mutations have been recognized in the hereditary form of SRNS. This review offers an
update on the current knowledge of steroid resistance-causing gene mutations in podocytes.
Understanding the specific genes involved in SRNS would guarantee an optimum therapeutic
benefit of steroid treatment.
Implication for health policy/practice/research/medical education:
The clinic needs novel therapeutic for patients with inherited glomerular disease that up to now have been suffering from lack
of any specific and effective treatment. This review offers an update on the current knowledge of steroid resistance-causing gene
mutations in podocytes.
Please cite this paper as: Zununi Vahed S, Moghaddas Sani H, Rajabzadeh S, Nariman-Saleh-Fam Z, Hejazian M, Hosseiniyan
Khatibi SM, Mohajel Shoja M, et al. The importance of genetic study in steroid-resistant nephrotic syndrome. J Renal Inj Prev.
2019;8(4):271-282. DOI: 10.15171/jrip.2019.51.