Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome

Pediatr Nephrol. 1994 Apr;8(2):164-8. doi: 10.1007/BF00865468.

Abstract

We report a patient with Pearson syndrome with failure to thrive, exocrine pancreas insufficiency, growth hormone deficiency and severe tubular dysfunction. The patient had no signs of liver involvement. Normal respiratory chain enzyme activity was found in the lymphocytes, but a mitochondrial DNA deletion was demonstrated in lymphocytes and in the kidney. Polymerase chain reaction amplification and sequence analysis revealed the presence of the 4,977 base pair "common" deletion in the mitochondrial genome. Our findings support the view that tubulopathies of unknown origin may be related to mitochondrial respiratory chain deficiency.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Biopsy
  • Bone Marrow Diseases / complications
  • Bone Marrow Diseases / genetics*
  • Bone Marrow Diseases / pathology
  • Child, Preschool
  • DNA / analysis
  • DNA, Mitochondrial / genetics*
  • Fanconi Syndrome / complications
  • Fanconi Syndrome / genetics*
  • Fanconi Syndrome / pathology
  • Female
  • Humans
  • Kidney / ultrastructure
  • Lymphocytes / pathology
  • Mitochondria / ultrastructure
  • Mitochondrial Myopathies / complications
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / pathology
  • Molecular Sequence Data
  • Pancreatic Diseases / complications
  • Pancreatic Diseases / genetics*
  • Pancreatic Diseases / pathology
  • Polymerase Chain Reaction
  • Sequence Deletion / genetics*
  • Syndrome

Substances

  • DNA, Mitochondrial
  • DNA