Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis

Abstract

MtDNA abnormalities can cause a steroid-resistant nephrotic syndrome, histologically characterized by FSGS. Physicians should be especially mindful of mitochondrial abnormalities when hearing loss, diabetes mellitus or neuromuscular disorders are present in the patient or family members.