학술논문
Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis.
Document Type
Article
Source
Nephrology Dialysis Transplantation; February 2005, Vol. 20 Issue: 2 p336-341, 6p
Subject
Language
ISSN
09310509; 14602385
Abstract
The heterogeneity of mitochondrial cytopathies is characteristic for this group of disorders, which preferentially affect the muscle and nerve system. The A3243G transition in the tRNA(Leu(UUR)) gene has been associated with slowly progressive forms of focal segmental glomerulosclerosis (FSGS). Here we present a patient who developed a severe nephrotic syndrome during her first pregnancy, which persisted after delivery, and proved resistant to immunosuppressive therapy. A sister of our patient had developed diabetes mellitus. We analysed the DNA for the presence of the mitochondrial DNA (mtDNA) A3243G transition.