Abstract
Nephropathic cystinosis is a lethal autosomal recessive lysosomal storage disease that destroys kidney function by ten years of age. It results from failure to transport cystine from lysosomes, leading to large accumulations of cystine within the lysosomes of almost all tissues. How the failure of function of cystinosin and the attendant lysosomal cystine accumulation effects the severe phenotype is now being investigated on several fronts, chief among which is the increase in the rate of apoptosis observed in cultured cells and renal tissue whose lysosomes are cystine-laden.
Keywords: Cystinosis, lysosomes, apoptosis, PKC delta, atubular glomeruli, lethal, kidneys, Nephropathic, storage disorder, fibroblasts
Current Pediatric Reviews
Title: Enhanced Apoptosis in the Pathophysiology of Cystinosis
Volume: 7 Issue: 4
Author(s): Jess G. Thoene
Affiliation:
Keywords: Cystinosis, lysosomes, apoptosis, PKC delta, atubular glomeruli, lethal, kidneys, Nephropathic, storage disorder, fibroblasts
Abstract: Nephropathic cystinosis is a lethal autosomal recessive lysosomal storage disease that destroys kidney function by ten years of age. It results from failure to transport cystine from lysosomes, leading to large accumulations of cystine within the lysosomes of almost all tissues. How the failure of function of cystinosin and the attendant lysosomal cystine accumulation effects the severe phenotype is now being investigated on several fronts, chief among which is the increase in the rate of apoptosis observed in cultured cells and renal tissue whose lysosomes are cystine-laden.
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Cite this article as:
G. Thoene Jess, Enhanced Apoptosis in the Pathophysiology of Cystinosis, Current Pediatric Reviews 2011; 7 (4) . https://dx.doi.org/10.2174/157339611796892300
DOI https://dx.doi.org/10.2174/157339611796892300 |
Print ISSN 1573-3963 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-6336 |
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