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2018 ; 22
(3
): 491-500
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Application of next-generation sequencing technology to diagnosis and treatment
of focal segmental glomerulosclerosis
#MMPMID28752288
Harita Y
Clin Exp Nephrol
2018[Jun]; 22
(3
): 491-500
PMID28752288
show ga
A broad range of genetic and non-genetic factors can lead to kidney injury that
manifests as focal segmental glomerulosclerosis (FSGS), which can be classified
into primary (idiopathic) and secondary forms. Previous genetic approaches to
familial or sporadic cases of FSGS or steroid-resistant nephrotic syndrome
identified causal mutations in a subset of genes. Recently, next-generation
sequencing (NGS) approaches are becoming a part of a standard assessment in
medical genetics. Current knowledge of the comprehensive genomic information is
changing the way we think about FSGS and draws attention not only to
identification of novel causal genes, but also to potential roles for
combinations of mutations in multiple genes, mutations with complex inheritance,
and susceptibility genes with variable penetrance carrying relatively minor but
significant effects. This review provides an update on recent advances in the
genetic analysis of FSGS and highlights the potential as well as the new
challenges of NGS for diagnosis and mechanism-based treatment of FSGS.