Ontology highlight
ABSTRACT:
SUBMITTER: Besouw MT
PROVIDER: S-EPMC4109637 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Besouw Martine Tp MT Levtchenko Elena N EN
International journal of nephrology and renovascular disease 20140717
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by generalized proximal tubular dysfunction known as renal Fanconi syndrome and causes end-stage renal disease by the age of about 10 years if left untreated. Extrarenal organs are also affected, including the thyroid gland, gonads, pancreas, liver, muscle, and brain. Treatment consists of administration of cysteamine, resulting in depletion of cystine that is trapped inside the lysosomes. Since cysteam ...[more]