Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

Abstract

We have identified an A608G mutation of mitochondrial genome in two cases whose presentation include tubulointerstitial nephritis and stroke.

Renal manifestations of genetic mitochondrial disease

“…15 The progressive nature of clinical features may be related to a replication advantage that has been reported for mtDNA molecules carrying the m.A3243G mutation, 16 leading to the progressive accumulation of mutant Rare case reports have described additional mitochondrial point mutations associated with kidney phenotypes (Table 1); these include focal segmental glomerulosclerosis (FSGS) [17][18][19] or interstitial fibrosis with progressive renal insufficiency. [20][21][22] The majority of mtDNA point mutations reported to date have been associated with proteinuria, a kidney phenotype typical of glomerular injury, and renal histopathology has demonstrated focal or global glomerulosclerosis on kidney biopsy. Renal tubular dysfunction and tubulointerstitial nephritis are less common findings on kidney biopsy.…”

Focal segmental glomerulosclerosis is associated with aPDSS2haplotype and, independently, with a decreased content of coenzyme Q10

“…Mutations in the mitochondrial genome that are associated with tubulointerstitial nephritis (53,58,67), steroid-resistant FSGS (49), and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) syndrome have been reported (18,31). Some patients with MELAS syndrome also have renal lesions such as FSGS or tubulointerstitial nephropathy (18), and other families predominantly express diabetes and deafness (8,59).…”

Mitochondrial tRNA Mutations: Clinical and Functional Perturbations

“…Although the parents were healthy, the children presented failure to thrive, chronic renal insufficiency, developmental delay and focal seizure. 253 Dysmorphic mitochondria with occasional intramitochondrial inclusions were found in the renal tubular epithelial cells.…”