An Autopsy Case of Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) with Intestinal Bleeding in Chronic Renal Failure

Abstract

A 50-year-old man who underwent hemodialysis (HD) at local outpatient HD center due to end-stage renal disease (ESRD) was transferred to our hospital because of pneumonia. He had severe emaciation and past history of congestive heart failure. Presenting symptoms almost consistently involved difficulty in hearing and recurrent attacks of migraine-like headaches. He was diagnosed with dilated cardiomyopathy, showing diastolic mechanical dyssynchrony by tissue Doppler echocardiography. On the day of death, he had hematemesis and hemorrhagic shock. Autopsy revealed perforation of duodenum, and genetic analysis using mitochondrial DNA from cardiac muscle and iliopsoas muscle revealed a 3243A > G mutation in the mitochondrial tRNA Leu(UUR) gene, which is related to mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Multiple organ failure due to the mutation of mitochondrial DNA with gastrointestinal bleeding is not a common.

Renal manifestations of primary mitochondrial disorders

“…In a 35-year-old female with MELAS syndrome resulting from the m.13513G>A mutation, renal failure was the initial manifestation of the MID 9 years before diagnosis of the MID (10). In a 50-year-old male with MELAS syndrome, chronic renal failure requiring hemodialysis was one of the clinical manifestations (16). Chronic renal failure was the indication for renal transplantation in a 58-year-old male with MELAS syndrome (17).…”

Evaluation of the oral health status in Chinese hemodialysis patients

“…Declining renal function impairs the normal physiological mechanisms regulating blood levels of calcium, phosphate, vitamin D, parathyroid hormone, and fibroblast growth factor, which then impact on multi‐organ functions, such as azotemia, hypertension, osteodystrophy, and bleeding under skin and mucosa …”

“…Declining renal function impairs the normal physiological mechanisms regulating blood levels of calcium, phosphate, vitamin D, parathyroid hormone, and fibroblast growth factor, 7 which then impact on multi-organ functions, such as azotemia, hypertension, osteodystrophy, and bleeding under skin and mucosa. [8][9][10][11] Kidney disease also negatively affects the status of oral health. Studies showed that hemodialysis (HD) patients had increased accumulation of supragingival plaque and a higher number of missing teeth.…”

Renal manifestations of genetic mitochondrial disease

“…While kidney disease due to mitochondrial point mutations has occasionally been reported in the absence of extrarenal features, 13,23 it more commonly occurs in the setting of MELAS syndrome 14,[24][25][26][27][28] or deafness, which usually occurs with diabetes. 11,12,26,[29][30][31][32][33][34][35] Point mutations that occur in a protein-coding region of mtDNA in association with a kidney phenotype are very rare. 36 A singlebase deletion in the complex I subunit NADH dehydrogenase 5, has been reported to occur in a single individual with glomerulocystic kidney disease and renal failure.…”