Switching from immediate- to extended-release cysteamine in nephropathic cystinosis patients: a retrospective real-life single-center study

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• 作者：Thurid Ahlenstiel-Grunow ; Nele K. Kanzelmeyer ; Kerstin Froede…
• 关键词：Nephropathic cystinosis ; Cysteamine ; Fanconi syndrome ; Lysosomal storage disease ; Cystine depleting agents
• 刊名：Pediatric Nephrology
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：32
• 期：1
• 页码：91-97
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Pediatrics; Nephrology; Urology;
• 出版者：Springer Berlin Heidelberg
• ISSN：1432-198X
• 卷排序：32

文摘

BackgroundNephropathic cystinosis is a rare lysosomal storage disease which is characterized by the accumulation of free cystine in lysosomes and subsequent intracellular crystal formation of cystine throughout the body. If not treated with cysteamine, a cystine-depleting agent, end-stage renal disease will develop early, followed by multiple organ failure as the disease progresses. The established cysteamine formulation requires a strict dosing regimen at 6-h intervals. An extended release (ER) twice-daily formulation has recently been developed. The aim of our study was to evaluate the implementation and outcomes of this option in routine care.