We are analyzing https://link.springer.com/article/10.1186/s13023-016-0426-y.

Title:
Cystinosis: a review | Orphanet Journal of Rare Diseases
Description:
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.
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Keywords {🔍}

cystinosis, pubmed, google, scholar, article, cystine, patients, cas, renal, cysteamine, disease, nephropathic, therapy, treatment, pediatr, gahl, levtchenko, van, nephrol, central, growth, clinical, children, age, early, syndrome, cells, diagnosis, cystinotic, lysosomal, ctns, reported, heuvel, fanconi, therapeutic, crystals, infantile, function, mutations, levels, protein, complications, gene, years, med, schneider, storage, failure, kidney, months,

Topics {✒️}

era-net e-rare2 jtc2014 3–20 nmol half-cystine/mg protein 0 nmol half-cystine/mg protein article download pdf de graaf-hess ac gaide chevronnay hp c-peptide production leading saguenay-lac-st-jean chronic renal failure lysosomal lysine/arginine transporter potent gastric acid-secretagogue auditory short-term memory reflectance confocal microscopy full size image intra-lysosomal cystine accumulation fewer long-term complications oval-shaped dermal particles end-stage renal disease abderhalden-kaufmann-lignac syndrome long-term ocular manifestations rarely exceed 1 mg/dl pure c57bl/6 background excellent long-term outcome long-term carnitine supplementation autosomal recessive disease oral cystine-depleting therapy leucocyte cystine level long-term cysteamine therapy poor cystine-depleting therapy de graaf-hess hereditary fanconi syndromes long-standing nephropathic cystinosis school-aged cystinosis patients enteric-coated capsule tandem mass spectrometry x-linked agammaglobulinemia post-transplant cystinotic patients extra-renal finding affecting proximal tubular damage lignac-fanconi syndrome �hereditary cystine disease” lc-ms/ms lc-ms/ms [83] ctns bmc genomics lc/ms-ms van den heuvel genetic background privacy choices/manage cookies elena levtchenko proximal tubular adaptation

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         headline:Cystinosis: a review
         description: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.
         datePublished:2016-04-22T00:00:00Z
         dateModified:2016-04-22T00:00:00Z
         pageStart:1
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            Cysteamine
            Cystinosis
            Reflectance Confocal Microscopy
            Cystine Level
            Medicine/Public Health
            general
            Pharmacology/Toxicology
            Human Genetics
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ScholarlyArticle:
      headline:Cystinosis: a review
      description: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.
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      dateModified:2016-04-22T00:00:00Z
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         Cystine
         Cysteamine
         Cystinosis
         Reflectance Confocal Microscopy
         Cystine Level
         Medicine/Public Health
         general
         Pharmacology/Toxicology
         Human Genetics
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            address:
               name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
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            name:University Hospitals Leuven & KU Leuven
            address:
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               type:PostalAddress
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            name:Radboud University Medical Center
            address:
               name:Department of Pediatric Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands
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PostalAddress:
      name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
      name:Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt
      name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
      name:Department of Pediatrics, Center of Pediatric Nephrology and Transplantation (CPNT), Faculty of Medicine, Cairo University, Cairo, Egypt
      name:EGORD, Egyptian group of orphan renal diseases, Cairo, Egypt
      name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
      name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium
      name:Department of Pediatric Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands
      name:Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & KU Leuven, Leuven, Belgium

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