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

Robert Kleta; Isa Bernardini; Masako Ueda; William S Varade; Chanika Phornphutkul; Donna Krasnewich; William A Gahl

doi:10.1016/j.jpeds.2004.03.056

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

J Pediatr. 2004 Oct;145(4):555-60. doi: 10.1016/j.jpeds.2004.03.056.

Authors

Robert Kleta¹, Isa Bernardini, Masako Ueda, William S Varade, Chanika Phornphutkul, Donna Krasnewich, William A Gahl

Affiliation

¹ 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 <kletar@mail.nih.gov>

PMID: 15480385
DOI: 10.1016/j.jpeds.2004.03.056

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.

Publication types

Case Reports

MeSH terms

Cysteamine / administration & dosage*
Cystine / metabolism
Fanconi Syndrome / drug therapy*
Female
Follow-Up Studies
Glomerular Filtration Rate
Growth Disorders / prevention & control
Humans
Infant
Infant, Newborn
Male
Time Factors
Treatment Outcome

Substances

Cystine
Cysteamine