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

Kleta, Robert; Bernardini, Isa; Ueda, Masako; Varade, William S; Phornphutkul, Chanika; Krasnewich, Donna; Gahl, William A · J Pediatr · 2004

case_report · Level V

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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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