Pathological similarities between low birth weight-related nephropathy and nephropathy associated with mitochondrial cytopathy.

Background: Individuals born with a low birth weight (LBW) have a higher risk of developing kidney dysfunction during their lifetime and sometimes exhibit focal segmental glomerulosclerosis (FSGS) lesions in their glomeruli. We herein try to obtain other pathological characteristics of LBW-related nephropathy.
Methods: We retrospectively evaluated the renal pathology of four patients demonstrating FSGS with a history of LBW. Two mitochondrial cytopathy patients were also analyzed. DNA mutations were surveyed using a PCR-Luminex assay.
Results: In all four FSGS patients with a history of LBW, focal segmental glomerulosclerosis were detected. Interestingly, granular swollen epithelial cells (GSECs), which have previously been reported exclusively in patients with mitochondrial cytopathy, were also observed in the distal tubules and/or collecting ducts of all four patients with a history of low birth weight in this study. Electron microscopy revealed that these granular swollen epithelial cells included an increased number of enlarged mitochondria. Furthermore, cytochrome c oxidase subunit IV staining of patients with a history of low birth weight and patients with mitochondrial DNA mutations showed unbalanced expression patterns in glomeruli and a part of tubular cells. However, no mitochondrial gene mutations were detected in any of our four patients with low birth weight-related nephropathy.
Conclusions: This is the first report to show the pathological similarities not only in glomeruli but also tubuli between nephropathy with a LBW history and nephropathy with mitochondrial cytopathy.
Virtual Slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/13000_2014_181.