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

被引：83

作者：

Kleta, R

Bernardini, I

Ueda, M

Varade, WS

Phornphutkul, C

Krasnewich, D

Gahl, WA

机构：

[1] NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USA

[2] Off Rare Dis, Intramural Program, NIH, Bethesda, MD USA

[3] Univ Rochester, Med Ctr, Golisano Childrens Hosp Strong, Dept Pediat, Rochester, NY USA

来源：

JOURNAL OF PEDIATRICS | 2004年 / 145卷 / 04期

关键词：

D O I：

10.1016/j.jpeds.2004.03.056

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report the excellent clinical outcomes of siblings with nephropathic cystinosis treated diligently with cysteamine starting 2 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.

引用

页码：555 / 560

页数：6

共 43 条

[41] The genomic region encompassing the nephropathic cystinosis gene (CTNS):: Complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion [J].