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10.1186/s13023-016-0426-y http://scihub22266oqcxt.onion/10.1186/s13023-016-0426-y C4841061!4841061 !27102039     free     free     free Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\27102039 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Orphanet+J+Rare+Dis 2016 ; 11 (ä): 47 Nephropedia Template TP {{tp|p=27102039 |t=2016. Cystinosis: a review |pdf=|usr=}}{{27102039 }} gab.com Text Cystinosis: a review JO: Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=27102039 #FOAvip Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs. The kidneys are initially affected during the first year of life through proximal tubular damage followed by progressive glomerular damage and end stage renal failure during mid-childhood if not treated. Other affected organs include eyes, thyroid, pancreas, gonads, muscles and CNS. Leucocyte cystine assay is the cornerstone for both diagnosis and therapeutic monitoring of the disease. Several lines of treatment are available for cystinosis including the cystine depleting agent cysteamine, renal replacement therapy, hormonal therapy and others; however, no curative treatment is yet available. In the current review we will discuss the most important clinical features of the disease, advantages and disadvantages of the current diagnostic and therapeutic options and the main topics of future research in cystinosis. Twit Text FOAVip Cystinosis: a review ????Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=27102039 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27102039 #FOAvip English Wikipedia <ref>{{Cite pmid|27102039 }}</ref> Cystinosis: a review #MMPMID27102039 Elmonem MA ; Veys KR ; Soliman NA ; van Dyck M ; van den Heuvel LP ; Levtchenko E Orphanet J Rare Dis 2016[Apr]; 11 (ä): 47 PMID27102039 show ga Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs. The kidneys are initially affected during the first year of life through proximal tubular damage followed by progressive glomerular damage and end stage renal failure during mid-childhood if not treated. Other affected organs include eyes, thyroid, pancreas, gonads, muscles and CNS. Leucocyte cystine assay is the cornerstone for both diagnosis and therapeutic monitoring of the disease. Several lines of treatment are available for cystinosis including the cystine depleting agent cysteamine, renal replacement therapy, hormonal therapy and others; however, no curative treatment is yet available. In the current review we will discuss the most important clinical features of the disease, advantages and disadvantages of the current diagnostic and therapeutic options and the main topics of future research in cystinosis. |Amino Acid Transport Systems, Neutral/genetics/metabolism [MESH] |Child [MESH] |Cystine/metabolism [MESH] |Cystinosis/*diagnosis/drug therapy/etiology/metabolism [MESH]Cystinosis: a review (epmc).pdf DeepDyve Pubget Overpricing