The incidence of atubular glomeruli in nephropathic cystinosis renal biopsies

Molecular Genetics and Metabolism

Volumn 101, Issue 4, 2010, Pages 417-420

  Larsen, Christopher P ^a   Walker, Patrick D ^a   Thoene, Jess G ^b  

^a Nephropathology Associates   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

Author keywords

Apoptosis; Atubular glomerulii; Cystinosis; Renal biopsy; Swan neck deformity

Indexed keywords

ADOLESCENT; ADULT; APOPTOSIS; ARTICLE; CHILD; CONTROLLED STUDY; CYSTINOSIS; FEMALE; GLOMERULUS; HUMAN; HUMAN TISSUE; INCIDENCE; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY TRANSPLANTATION; KIDNEY TUBULE CELL; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; APOPTOSIS; BIOPSY; CHILD; CYSTINE; FANCONI SYNDROME; FEMALE; HUMANS; KIDNEY FAILURE, CHRONIC; KIDNEY GLOMERULUS; KIDNEY TUBULES; MALE; NEPHRONS; NEPHROTIC SYNDROME; YOUNG ADULT;

EID: 78649321489     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.08.015     Document Type: Article

References (17)

1. Gahl W.A., Thoene J., Schneider J. Cystinosis: a disorder of lysosomal membrane transport. The Metabolic and Molecular Bases of Inherited Disease 2001, 5085-5108. McGraw Hill. eighth ed. C. Scriver, A. Beaudet, W. Sly, D. Valle (Eds.).
2. Town M., Cherqui S., Attard M., Forestier L., Whitmore S.A., Callen D.F., Gribouval O., Broyer M., Bates G.P., van't Hoff W., Antignac C. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat. Genet. 1998, 18:319-324.
3. Patrick A. Deficiencies of -SH-dependent enzymes in cystinosis. J. Clin. Pathol. 1965, 28:427-443.
4. Levtchenko E., de Graaf-Hess A., Wilmer M., van den Heuvel L., Monnens L., Blom H. Altered status of glutathione and its metabolites in cystinotic cells. Nephrol. Dial. Transplant. 2005, 20:1828-1832.
5. Wilmer M.J., de Graaf-Hess A., Blom H.J., Dijkman H.B., Monnens L.A., van den Heuvel L.P., Levtchenko E.N. Elevated oxidized glutathione in cystinotic proximal tubular epithelial cells. Biochem. Biophys. Res. Commun. 2005, 337(2):610-614.
6. Chol M., Nevo N., Cherqui S., Antignac C., Rustin P. Glutathione precursors replenish decreased glutathione pool in cystinotic cell lines. Biochem. Biophys. Res. Commun. 2004, 324(1):231-235.
7. Mannucci L., Pastore A., Rizzo C., Piemonte F., Rizzoni G., Emma F. Impaired activity of the gamma-glutamyl cycle in nephropathic cystinosis fibroblasts. Pediatr. Res. 2006, 59:332-335.
8. Vitvitsky V., Witcher M., Banerjee R., Thoene J. The redox status of cystinotic fibroblasts. Mol. Genet. Metabol. 2010, 99:384-388.
9. Park M.A., Helip-Wooley A., Thoene J.G. Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells. J. Am. Soc. Nephrol. 2002, 13:2878-2887. 307.
10. Park M.A., Thoene J.G. Potential role of apoptosis in development of the cystinotic phenotype. Pediatr. Nephrol. 2005, 20:441-446. 309.
11. Park M., Pejovic V., Kerisit K., Junius S., Thoene J. Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of PKC ∂. J. Am. Soc. Nephrol. 2006, 17:3167-3175.
12. Thoene J.G. A review of the role of enhanced apoptosis in the pathophysiology of cystinosis. Mol. Genet. Metab. 2007, 92:292-298.
13. Wever P., Aten J., Rentenaar R., Hoek C., Koopman G., Weening J.J. tenBerge I: Apoptotic tubular cell death during acute renalallograft rejection. Clin. Nephrol. 1998, 49:28-34.
14. Nickels R., Zack D. Apoptosis in ocular disease, a molecular overview. Ophthalmic Genet. 1996, 17:145-165.
15. Mahoney C.P., Striker G.E. Early development of the renal lesions in infantile cystinosis. Pediatr. Nephrol. 2000, 15:50-56.
16. Chevalier R., Forbes M. Generation and evolution of atubular glomeruli in the progression of renal disorders. J. Am. Soc. Nephrol. 2008, 19:197-206.
17. Alam J. Apoptosis: target for novel drugs. Trends Biotechnol. 2003, 21:479-483.