Mitochondrial disorders and the kidney

Archives of Disease in Childhood

Volumn 78, Issue 4, 1998, Pages 387-390

  Niaudet, Patrick ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ASCORBIC ACID; BICARBONATE; CARNITINE; MENADIONE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBOFLAVIN; UBIDECARENONE;

CARNITINE DEFICIENCY; DIET RESTRICTION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME DEFICIENCY; FANCONI RENOTUBULAR SYNDROME; HUMAN; KIDNEY DISEASE; LACTIC ACIDOSIS; PRIORITY JOURNAL; RESPIRATORY CHAIN; REVIEW; SYMPTOMATOLOGY;

EID: 0031894922     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.78.4.387     Document Type: Review

References (25)

1. Johns DR. Mitochondrial DNA and disease. N Engl J Med 1995;333:638-44.
2. Luft R. The development of mitochondrial medicine. Proc Natl Acad Sci USA 1994;91:8731-8.
3. Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B. A case of severe hypermetabolism of nonthyroid origin with a detect in the maintenance of mitochondrial respiratory control; a correlated clinical, biochemical and morphological study. J Clin Invest 1962;41:1776-804.
4. Sengers RCA, Stadhouders AM, Trijbels JMF. Mitochondrial myopathies: clinical, morphological and biochemical aspects. Eur J Pediatr 1984;141:192-207.
5. Hatefi Y. The mitochondrial electron transport and oxidative phosphorylation system. Annu Rev Biochem 1985;54:1015-69.
6. Clayton DA. Structure and function of the mitochondrial genome. J Inherit Metab Dis 1992;15:439-47.
7. Wallace DC. Maternal genes: mitochondrial diseases. Birth Defects 1987;23:137-90.
8. Giles RE, Blanc H, Cann HM, Wallace DC. Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci USA 1980;77:6715-19.
9. Munnich A, Rustin P, Rötig A, et al. Clinical aspects of mitochondrial disorders. J Inherit Metab Dis 1992;15:448-55.
10. Petty RKH, Harding AE, Morgan-Hughes JA. The clinical features of mitochondrial myopathy. Brain 1986;109:915-38.
11. DiMauro S, Bonilla E, Lombes A, Shanske S, Minetti C, Moraes CT. Mitochondrial encephalomyopathies. Neurol Clin 1990;8:483-506.
12. Reardon W, Ross RJM, Sweeney MG, et al. Diabetes mellilus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 1992;340:1376-9.
13. Van den Ouweland PAA, Lemkes HHPJ, Ruitenbeeck W, et al. Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992;1:368-71.
14. Majander A, Suomalaiinen A, Vettenrantta K, et al. Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion. Pediatr Res 1991;30:327-30.
15. Morris AAM, Taylor BW, Birch-Machin MA, et al. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatr Nephrol 1995;9:407-11.
16. Niaudet P, Heidet L, Munnich A, et al. Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome. Pediatr Nephrol 1994;8: 164-8.
17. Ogier H, Lombes A, Sholte HR, et al. De Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency. J Pediatr 1988; 112:734-9.
18. Rötig A, Bessis JL, Romero N, et al. Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus and cerebellar ataxia. Am J Hum Genet 1992;50:364-70.
19. Sperl W, Ruitenbeek W, Trijbels JMF, Sengers RCA, Stadhouders AM, Guggenbichler JP. Mitochondrial myopathy with lactic acidemia, Fanconi-de Toni-Debrë syndrome and a disturbed succinate-cytochrome c oxidore-ductase activity. Eur J Pediatr 1988;147:418-21.
20. Niaudet P, Rötig A. The kidney in mitochondrial cytopathics. Kidney Im 1997;51:1000-7.
21. Donaldson MDC, Warner AA, Trompeter RS, Haycock GB, Chantler C. Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders. Arch Dis Child 1985;60:426-34.
22. Rötig A, Goutieres F, Niaudet P, et al. Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis. J Pediatr 1995;126:597-601.
23. Chrétien 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;173:26-33.
24. Rustin P, Chrétien D, Gérard B, et al. Biochemical, molecular investigations in respiratory chain deficiencies. Clin Chim Acta 1993;228:35-51.
25. Przyrembel H. Therapy of mitochondrial disorders. J Inherit Metab Dis 1987;10:129-46.