Journal
ADVANCES IN CHRONIC KIDNEY DISEASE
Volume 21, Issue 5, Pages 422-425Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1053/j.ackd.2014.06.001
Keywords
FSGS; Genetic
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Funding
- NIDDK NIH HHS [R01 DK054931, R56 DK054931] Funding Source: Medline
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Focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome can be caused by rare highly penetrant mutations in number of genes. FSGS can follow both recessive and dominant inheritance patterns. In general, recessive forms present early, whereas the autosomal dominant forms present in adolescence or adulthood. Many of the genes found to be mutated in FSGS and nephrotic syndrome patients encode proteins essential for normal podocyte structure and/or function. An exception appears to be APOL1, which harbors common variants responsible for the high rate of FSGS and other nephropathies in people of recent African ancestry. Familial FSGS should be regarded as part of a spectrum of inherited glomerulopathies where the precise histologic presentation may depend on the age of onset, function of the responsible gene and gene products, and other factors. (C) 2014 by the National Kidney Foundation, Inc. All rights reserved.
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