Mitochondrial cytopathies are a group of heterogeneous disorders characterized by multisystem involvement. Renal involvement in mitochondrial cytopathies is usually manifested as tubular dysfunction owing to impaired energy metabolism; however, a few cases with glomerular changes have also been reported. Herein we report the case of a 4-month-old Turkish girl with a mitochondrial DNA deletion and focal segmental glomerulosclerosis. (J Child Neurol 2005;20:83—84).
References
1.
Niaudet P., Rötig A.: The kidney in mitochondrial cytopathies. Kidney Int1997;51:1000—1007.
2.
Brun P., Ogier de Baulny H., Peuchmaur M., et al: Les atteintes renales des cytopathies mitochondriales, in Journees Parisiennes de Pediatrie, Paris, Flammarion Medecine Sciences, 1992, 227—234.
3.
Mochizuki H. , Joh K., Kawame H., et al: Mitochondrial encephalomyopathies preceded by de-Toni-Debré-Fanconi syndrome or focal segmental glomerulosclerosis . Clin Nephrol1996;46:347—352.
4.
Wallace DC, Zheng XX, Lott MT, et al: Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological and biochemical characterization of a mitochondrial DNA disease. Cell1988;55:601—610.
5.
Shoffner JMMolecular analysis of oxidative phosphorylation diseases for detection of mitochondrial DNA mutations, in Dracopoli NC, Haines JL, Korf BR, et al (eds): Current Protocols in Human Genetics , John Wiley and Sons, New York , 9.9.1—9.9.26.
6.
Buemi M., Allegra A., Rötig A., et al: Renal failure from mitochondrial cytopathies. Nephron1997;76:249—253.
7.
Doleris LM, Hill GS, Chedin P., et al: Focal segmental glomerulosclerosis associated with mitochondrial cytopathy. Kidney Int2000; 58:1851—1858.
8.
Hotta O., Inoue CN, Miyabayashi S., et al: Clinical and pathogenic features of focal segmental glomerulosclerosis with mitochondrial tRNA Leu(UUR) gene mutation. Kidney Int2001;59:1236—1243.
