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

R Kleta, I Bernardini, M Ueda, WS Varade… - The Journal of …, 2004 - Elsevier
R Kleta, I Bernardini, M Ueda, WS Varade, C Phornphutkul, D Krasnewich, WA Gahl
The Journal of pediatrics, 2004Elsevier
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/1.73 m2, respectively. These
cases illustrate the critical importance of early diagnosis and treatment.
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/1.73m2, respectively. These cases illustrate the critical importance of early diagnosis and treatment.
Elsevier