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Improving the prognosis of nephropathic cystinosis

Authors Besouw M, Levtchenko E

Received 6 May 2014

Accepted for publication 21 May 2014

Published 17 July 2014 Volume 2014:7 Pages 297—302


Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Martine TP Besouw,1,2 Elena N Levtchenko1,2

1Department of Pediatric Nephrology, University Hospitals Leuven, Belgium; 2Laboratory of Pediatrics, Catholic University Leuven, Leuven, Belgium

Abstract: 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 cysteamine has a short half-life, it should be administered every 6 hours. Recently, a new delayed-release formulation was marketed, that should be administered every 12 hours. The first studies comparing both cysteamine formulations show comparable results regarding white blood cell cystine depletion (which serves as a measure for cystine accumulation in the body), while a slightly lower daily dose of cysteamine can be used.

Keywords: cystinosis, cysteamine, delayed-release, immediate-release

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