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. 1998 Apr;78(4):387–390. doi: 10.1136/adc.78.4.387

Mitochondrial disorders and the kidney

P Niaudet 1
PMCID: PMC1717549  PMID: 9623410

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Selected References

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  1. Chretien D., Bourgeron T., Rötig A., Munnich A., Rustin P. The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle. Biochem Biophys Res Commun. 1990 Nov 30;173(1):26–33. doi: 10.1016/s0006-291x(05)81016-2. [DOI] [PubMed] [Google Scholar]
  2. Clayton D. A. Structure and function of the mitochondrial genome. J Inherit Metab Dis. 1992;15(4):439–447. doi: 10.1007/BF01799602. [DOI] [PubMed] [Google Scholar]
  3. DiMauro S., Bonilla E., Lombes A., Shanske S., Minetti C., Moraes C. T. Mitochondrial encephalomyopathies. Neurol Clin. 1990 Aug;8(3):483–506. [PubMed] [Google Scholar]
  4. Donaldson M. D., Warner A. A., Trompeter R. S., Haycock G. B., Chantler C. Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders. Arch Dis Child. 1985 May;60(5):426–434. doi: 10.1136/adc.60.5.426. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Giles R. E., Blanc H., Cann H. M., Wallace D. C. Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci U S A. 1980 Nov;77(11):6715–6719. doi: 10.1073/pnas.77.11.6715. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Hatefi Y. The mitochondrial electron transport and oxidative phosphorylation system. Annu Rev Biochem. 1985;54:1015–1069. doi: 10.1146/annurev.bi.54.070185.005055. [DOI] [PubMed] [Google Scholar]
  7. Johns D. R. Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease. N Engl J Med. 1995 Sep 7;333(10):638–644. doi: 10.1056/NEJM199509073331007. [DOI] [PubMed] [Google Scholar]
  8. LUFT R., IKKOS D., PALMIERI G., ERNSTER L., AFZELIUS B. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. J Clin Invest. 1962 Sep;41:1776–1804. doi: 10.1172/JCI104637. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Luft R. The development of mitochondrial medicine. Proc Natl Acad Sci U S A. 1994 Sep 13;91(19):8731–8738. doi: 10.1073/pnas.91.19.8731. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Majander A., Suomalainen A., Vettenranta K., Sariola H., Perkkiö M., Holmberg C., Pihko H. Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion. Pediatr Res. 1991 Oct;30(4):327–330. doi: 10.1203/00006450-199110000-00007. [DOI] [PubMed] [Google Scholar]
  11. Morris A. A., Taylor R. W., Birch-Machin M. A., Jackson M. J., Coulthard M. G., Bindoff L. A., Welch R. J., Howell N., Turnbull D. M. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatr Nephrol. 1995 Aug;9(4):407–411. doi: 10.1007/BF00866711. [DOI] [PubMed] [Google Scholar]
  12. Munnich A., Rustin P., Rötig A., Chretien D., Bonnefont J. P., Nuttin C., Cormier V., Vassault A., Parvy P., Bardet J. Clinical aspects of mitochondrial disorders. J Inherit Metab Dis. 1992;15(4):448–455. doi: 10.1007/BF01799603. [DOI] [PubMed] [Google Scholar]
  13. Niaudet P., Heidet L., Munnich A., Schmitz J., Bouissou F., Gubler M. C., Rötig A. Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome. Pediatr Nephrol. 1994 Apr;8(2):164–168. doi: 10.1007/BF00865468. [DOI] [PubMed] [Google Scholar]
  14. Niaudet P., Rotig A. The kidney in mitochondrial cytopathies. Kidney Int. 1997 Apr;51(4):1000–1007. doi: 10.1038/ki.1997.140. [DOI] [PubMed] [Google Scholar]
  15. Ogier H., Lombes A., Scholte H. R., Poll-The B. T., Fardeau M., Alcardi J., Vignes B., Niaudet P., Saudubray J. M. de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency. J Pediatr. 1988 May;112(5):734–739. doi: 10.1016/s0022-3476(88)80690-5. [DOI] [PubMed] [Google Scholar]
  16. Petty R. K., Harding A. E., Morgan-Hughes J. A. The clinical features of mitochondrial myopathy. Brain. 1986 Oct;109(Pt 5):915–938. doi: 10.1093/brain/109.5.915. [DOI] [PubMed] [Google Scholar]
  17. Przyrembel H. Therapy of mitochondrial disorders. J Inherit Metab Dis. 1987;10 (Suppl 1):129–146. doi: 10.1007/BF01812853. [DOI] [PubMed] [Google Scholar]
  18. Reardon W., Ross R. J., Sweeney M. G., Luxon L. M., Pembrey M. E., Harding A. E., Trembath R. C. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet. 1992 Dec 5;340(8832):1376–1379. doi: 10.1016/0140-6736(92)92560-3. [DOI] [PubMed] [Google Scholar]
  19. Rustin P., Chretien D., Bourgeron T., Gérard B., Rötig A., Saudubray J. M., Munnich A. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta. 1994 Jul;228(1):35–51. doi: 10.1016/0009-8981(94)90055-8. [DOI] [PubMed] [Google Scholar]
  20. Rötig A., Bessis J. L., Romero N., Cormier V., Saudubray J. M., Narcy P., Lenoir G., Rustin P., Munnich A. Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. Am J Hum Genet. 1992 Feb;50(2):364–370. [PMC free article] [PubMed] [Google Scholar]
  21. Rötig A., Goutières F., Niaudet P., Rustin P., Chretien D., Guest G., Mikol J., Gubler M. C., Munnich A. Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis. J Pediatr. 1995 Apr;126(4):597–601. doi: 10.1016/s0022-3476(95)70359-4. [DOI] [PubMed] [Google Scholar]
  22. Sengers R. C., Stadhouders A. M., Trijbels J. M. Mitochondrial myopathies. Clinical, morphological and biochemical aspects. Eur J Pediatr. 1984 Feb;141(4):192–207. doi: 10.1007/BF00572761. [DOI] [PubMed] [Google Scholar]
  23. Sperl W., Ruitenbeek W., Trijbels J. M., Sengers R. C., Stadhouders A. M., Guggenbichler J. P. Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity. Eur J Pediatr. 1988 May;147(4):418–421. doi: 10.1007/BF00496424. [DOI] [PubMed] [Google Scholar]
  24. Wallace D. C. Maternal genes: mitochondrial diseases. Birth Defects Orig Artic Ser. 1987;23(3):137–190. [PubMed] [Google Scholar]
  25. van den Ouweland J. M., Lemkes H. H., Ruitenbeek W., Sandkuijl L. A., de Vijlder M. F., Struyvenberg P. A., van de Kamp J. J., Maassen J. A. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet. 1992 Aug;1(5):368–371. doi: 10.1038/ng0892-368. [DOI] [PubMed] [Google Scholar]

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