Abstract: A 19-year-old female patient was referred to our hospital with asymptomatic proteinuria, normal renal function, hyperuricemia. Extrarenal manifestations included short stature, diabetes mellitus, hearing loss, pre-excitation syndrome. Her mother was also short stature. The kidney biopsy revealed focal segmental glomerulosclerosis (FSGS), with dysmorphic abnormal mitochondria in the podocytes, parietal epithelial cells and renal tubular epithelial cells on electron microscopy. Gene testing revealed a m.3243A>G mutation in mitochondrial MT-TL1 gene, maternal inherited. The final diagnosis was mitochondrial disease associated with m.3243A>G mutation.

Key words: mitochondrial disease, m.3243A>, G mutation, focal segmental glomerulosclerosis, diabetes mellitushearing loss