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Genetics of steroid‐resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing
Author(s) -
Joshi S,
Andersen R,
Jespersen B,
Rittig S
Publication year - 2013
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/apa.12317
Subject(s) - medicine , genetic testing , nephrotic syndrome , mutation , genotype , phenotype , genetic counseling , genetics , gene , bioinformatics , identification (biology) , biology , botany
Identification of genes, associated mutations and genotype–phenotype correlations in steroid‐resistant nephrotic syndrome ( SRNS ) is being translated to clinical practice through genetic testing. This review provides an update on the genes and mutations associated with SRNS along with a suggested approach for genetic testing in patients with SRNS . Conclusion The number of indentified genes associated with SRNS is increasing along with our understanding of their impact on treatment response and risk of recurrence. A systematic approach to genetic testing in patients with SRNS might aid the physician in selecting appropriate treatment.