title: 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.
authors.affiliation: Department of Nephrology, The University of Tokushima Graduate School, Tokushima, Japan. akiramima@clin.med.tokushima-u.ac
authors.forename: Akira
authors.initials: A
authors.lastname: Mima
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Shiota
authors.forename: Takeshi
authors.initials: T
authors.lastname: Matsubara
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Iehara
authors.forename: Taro
authors.initials: T
authors.lastname: Akagi
authors.forename: Hideharu
authors.initials: H
authors.lastname: Abe
authors.forename: Kojiro
authors.initials: K
authors.lastname: Nagai
authors.forename: Motokazu
authors.initials: M
authors.lastname: Matsuura
authors.forename: Taichi
authors.initials: T
authors.lastname: Murakami
authors.forename: Seiji
authors.initials: S
authors.lastname: Kishi
authors.forename: Toshikazu
authors.initials: T
authors.lastname: Araoka
authors.forename: Fumi
authors.initials: F
authors.lastname: Kishi
authors.forename: Naoki
authors.initials: N
authors.lastname: Kondo
authors.forename: Reiko
authors.initials: R
authors.lastname: Shigeta
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Yoshikawa
authors.forename: Toru
authors.initials: T
authors.lastname: Kita
authors.forename: Toshio
authors.initials: T
authors.lastname: Doi
authors.forename: Atsushi
authors.initials: A
authors.lastname: Fukatsu
mesh_terms: D000140:Acidosis, Lactic / Q000209:etiology / Q000473:pathology*; D001344:Autopsy; D001706:Biopsy; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006471:Gastrointestinal Hemorrhage / Q000209:etiology / Q000473:pathology*; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications* / Q000473:pathology / Q000628:therapy; D017241:MELAS Syndrome / Q000209:etiology / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000209:etiology / Q000473:pathology*; D006435:Renal Dialysis