Long-term follow-up of well-treated nephropathic cystinosis patients.
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.
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>
Robert
R
Kleta
Isa
I
Bernardini
Masako
M
Ueda
William S
WS
Varade
Chanika
C
Phornphutkul
Donna
D
Krasnewich
William A
WA
Gahl
D003543:Cysteamine / Q000008:administration & dosage*; D003553:Cystine / Q000378:metabolism; D005198:Fanconi Syndrome / Q000188:drug therapy*; D005260:Female; D005500:Follow-Up Studies; D005919:Glomerular Filtration Rate; D006130:Growth Disorders / Q000517:prevention & control; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013997:Time Factors; D016896:Treatment Outcome
D003553:Cystine; D003543:Cysteamine