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.
Kleta
Robert
R
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>
Bernardini
Isa
I
Ueda
Masako
M
Varade
William S
WS
Phornphutkul
Chanika
C
Krasnewich
Donna
D
Gahl
William A
WA
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