Literature DB >> 15480385

Long-term follow-up of well-treated nephropathic cystinosis patients.

Robert Kleta1, Isa Bernardini, Masako Ueda, William S Varade, Chanika Phornphutkul, Donna Krasnewich, William A Gahl.   

Abstract

We report the excellent clinical outcomes of siblings with nephropathic cystinosis treated diligently with cysteamine starting at 20 months and 2 months of age. Now 15 and 8 years old, they have glomerular filtration rates of 78 and 105 mL/min/1.73m 2 , respectively. These cases illustrate the critical importance of early diagnosis and treatment.

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Year:  2004        PMID： 15480385     DOI： 10.1016/j.jpeds.2004.03.056

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  40 in total

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Review 2.  Genetic testing in renal disease.

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5.  Successful management of a neglected case of nephropathic cystinosis.

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6.  Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy.

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7.  Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression.

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Review 9.  Nephropathic cystinosis: late complications of a multisystemic disease.

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10.  Intravenous delivery of cysteamine for the treatment of cystinosis: association with hepatotoxicity.

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