Deletion of the mitochondrial DNA in a case of de Toni-Debr -Fanconi syndrome and Pearson syndrome
- 1 April 1994
- journal article
- case report
- Published by Springer Nature in Pediatric Nephrology
- Vol. 8 (2) , 164-168
- https://doi.org/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.Keywords
This publication has 17 references indexed in Scilit:
- The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscleBiochemical and Biophysical Research Communications, 1990
- Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.Journal of Clinical Investigation, 1990
- Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndromeThe Journal of Pediatrics, 1990
- Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre SyndromeNew England Journal of Medicine, 1989
- MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROMEPublished by Elsevier ,1989
- de Toni-Fanconi-Debré syndrome with leigh syndrome revealing severe muscle cytochrome c oxidase deficiencyThe Journal of Pediatrics, 1988
- Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patientAnnals of Neurology, 1985
- Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonateThe Journal of Pediatrics, 1981
- A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunctionPublished by Elsevier ,1979
- Hereditary Mitochondrial Myopathy with Lactic Acidemia, A DeToni-Fanconi-Debr?? Syndrome, and a Defective Respiratory Chain in Voluntary Striated MusclesPediatric Research, 1977