Abstract
MOLECULAR BASIS OF FOCAL SEGMENTAL GLOMERULOSCLEROSIS ASSOCIATED WITH STEROID RESISTANCE NEPHROTIC SYNDROME

Bhoomi B. Joshi, Kinnari N. Mistry*, Prakash G. Koringa, Sishir Gang and Chaitanya G. Joshi

ABSTRACT

According to the classical description, focal segmental glomerulosclerosis (FSGS) is characterized by the presence of scarring lesion in some (i.e. focal) segmental portion of glomeruli. FSGS patients generally do not respond to steroid treatment, thus despite the availability of a number of agents with variable efficacy in inducing remission, the optimal treatment of patients with steroid resistant nephrotic syndrome (SRNS) is unclear. Genetic causes can be identified in nearly 10% of affected children with highly heterogeneous disorder. Therefore it is important to know about genetic components of underlying cause of SRNS so that patients can be treated effectively before they develop end stage renal disease. This review provides potential clinical application of polymorphisms in candidate genes involved in FSGS-SRNS which may serve as markers in disease prediction. The mutant variants showing genotypic–phenotypic association can be translated to clinical practice through genetic testing. Rather, the most significant outcome of this review will be a better understanding of disease pathogenesis, which will hopefully lead in turn to novel and better treatments and more tailored drug therapy.

Keywords: Nephrotic syndrome, Focal Segmental Glomerulosclerosis, Steroid Resistance Nephrotic Syndrome, SNPs.


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