Progressive nephropathy associated with mitochondrial tRNA gene mutation

Clinical Nephrology

Volumn 62, Issue 2, 2004, Pages 149-154

  Dinour, D ^a   Mini, S ^a   Polak Charcon, S ^a   Lotan, D ^a,b   Holtzman, E J ^a  

^a SHEBA MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

A3243G mitochondrial mutation; Focal and segmental glomerulosclerosis; Nephropathy; Podocyte

Indexed keywords

ANTIHYPERTENSIVE AGENT; CREATININE; GLUCOSE; LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; PROTEIN;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIABETES MELLITUS; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DETERMINATION; FEMALE; GENE MUTATION; GLOMERULOPATHY; GLUCOSE BLOOD LEVEL; HEADACHE; HEARING LOSS; HEART VENTRICLE HYPERTROPHY; HEMODIALYSIS; HETEROPLASMY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; KIDNEY CELL; KIDNEY DISEASE; KIDNEY FAILURE; LEUKOCYTE; MALE; MUSCLE CRAMP; PODOCYTE; PROTEINURIA; SHORT STATURE; THORAX PAIN; URINALYSIS;

EID: 4444324996     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/cnp62149     Document Type: Article

References (13)

1. LEU gene mutation. Pediatr Nephrol 13.-477-480
2. Guillausseau P-J, Massin P, Doubois-La Forgue D et al 2001 Maternally inherited diabetes and deafness: a multicenter study. Ann Intern Med 134: 721-728
3. Leu(UUR) gene mutation. Kidney Int 59: 1236-1243
4. Leu(UUR) gene in Japanese patients with diabetes mellitus and end-stage renal disease. J Hum Genet 46: 330-334
5. Leu(UUR) gene associated with progressive kidney disease. J Am Soc Nephrol 8: 118-1124
6. Johns DR 1995 Seminars in medicine of the Beith Israel Hospital, Boston: Mitochondrial DNA and disease. N Engl J Med 333: 638-644
7. Kurogouchi F, Oguchi T, Mawatari E, et al 1998 A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation. Am J Nephrol 18: 551-556
8. Mochizuki H, Joh K, Kawame H et al 1996 Mitochondrial encephlomyopathies preceded by de-Toni-Debre-Fanconi syndrome or focal segmental glomerulosclerosis. Clin Nephrol 46: 347-352
9. Moulonguet-Doleris L, Hill GS, Chedin P et al 2000 Focal segmental glomerulosclerosis associated with mitochondrial cytopathy. Kidney Int 58: 1851-1858
10. Nakamura S, Yoshinari M, Doi Y et al 1999 Renal complications in patients with diabetes mellitus associated with an A to G mutation of mitochondrial DNA at the 3243 position of leucine tRNA. Diabetes Res Clin Pract 44: 183-189
11. Takeda CS, Takeda S, Ikei Y et al 2002 Focal glomerulosclerosis expanding from the glomerular vascular pole in a Japanese male with mitochondrial DNA mutation. Nephrol Dial Transplant 17: 172-174
12. Leu(UUR) gene. Nephrol Dial Transplant 15: 385-388
13. Yamagata K, Muro K, Usui J et al 2002 Mitochondrial DNA mutations in focal segmental glomerulosclerosis lesions. J Am Soc Nephrol 13: 1816-1823