Long-term follow-up of well-treated nephropathic cystinosis patients |
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| Authors: | Kleta Robert Bernardini Isa Ueda Masako Varade William S Phornphutkul Chanika Krasnewich Donna Gahl William A |
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| Affiliation: | Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA. kletar@mail.nih.gov |
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| 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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| Keywords: | ALT, Alanine aminotransferase AP, Alkaline phosphatase AST, Aspartate aminotransferase FSI, Fanconi Syndrome Index GFR, Glomerular filtration rate T4, Thyroxine TSH, Thyroid-stimulating hormone |
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