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Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis
Author(s) -
Marije M. Löwik,
Elena Levtchenko,
Dineke Westra,
Patricia J.T.A. Groenen,
E. J. Steenbergen,
J J Weening,
Marc Lilien,
L.A.H. Monnens,
Lambertus P. van den Heuvel
Publication year - 2008
Publication title -
nephrology dialysis transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.654
H-Index - 168
eISSN - 1460-2385
pISSN - 0931-0509
DOI - 10.1093/ndt/gfn208
Subject(s) - focal segmental glomerulosclerosis , medicine , nephrotic syndrome , podocyte , glomerulosclerosis , pathogenesis , proteinuria , minimal change disease , pathology , endocrinology , kidney
Focal segmental glomerulosclerosis (FSGS) is a major cause of steroid-resistant nephrotic syndrome in childhood with a central role for the podocytes in the pathogenesis. Mutated proteins expressed in podocytes cause proteinuria. The role of combined gene defects in the development of FSGS is less clear.

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