Mitochondrial encephalomyopathies preceded by de-Toni-Debre-Fanconi syndrome or focal segmental glomerulosclerosis

H. Mochizuiki, K. Joh, H. Kawame, A. Imadachi, H. Nozaki, T. Ohashi, N. Usui, Y. Eto, Y. Kanetsuna, S. Aizawa

Research output: Contribution to journalArticlepeer-review

57 Citations (Scopus)

Abstract

We report two rare cases of mitochondrial encephalomyopathies which were preceded by renal diseases. One occurred in an 11 year-old girl diagnosed with Kearns-Sayre syndrome, which was preceded by de-Toni-Debre-Fanconi syndrome 8 years previously. The other occurred in a 14-year-old girl diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, who developed focal segmental glomerulosclerosis 3 years prior to confirmation of the diagnosis. Tissue from both patients demonstrated morphological abnormalities of the mitochondria in the distal renal tubular epithelium and leiomyocytes of the small renal artery. The present cases illustrate various clinical and morphologic evidence of renal diseases which may further our understanding of mitochondrial encephalomyopathies.

Original languageEnglish
Pages (from-to)347-352
Number of pages6
JournalClinical nephrology
Volume46
Issue number5
Publication statusPublished - 1996 Dec 2
Externally publishedYes

Keywords

  • Focal segmental glomerulosclerosis
  • Kearns-Sayre-syndrome
  • Mitochondrial encephalomyopathy
  • Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
  • de-Toni-Debre-Fanconi syndrome

ASJC Scopus subject areas

  • Nephrology

Fingerprint Dive into the research topics of 'Mitochondrial encephalomyopathies preceded by de-Toni-Debre-Fanconi syndrome or focal segmental glomerulosclerosis'. Together they form a unique fingerprint.

Cite this