病情得到良好治疗的肾病型胱氨酸病患者的长期随访
Long-term follow-up of well-treated nephropathic cystinosis patients.
作者信息
Kleta Robert, Bernardini Isa, Ueda Masako, Varade William S, Phornphutkul Chanika, Krasnewich Donna, Gahl William A
机构信息
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA.
出版信息
J Pediatr. 2004 Oct;145(4):555-60. doi: 10.1016/j.jpeds.2004.03.056.
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.
我们报告了两名患肾病型胱氨酸病的兄弟姐妹的出色临床结果，他们分别在20个月和2个月大时开始接受半胱胺治疗，治疗过程认真勤勉。现在他们分别为15岁和8岁，肾小球滤过率分别为78和105 mL/min/1.73m²。这些病例说明了早期诊断和治疗的至关重要性。
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