The treatment of cystinosis with cysteamine and phosphocysteamine in the United Kingdom and Eire.
Fifty-nine patients with cystinosis were treated with cysteamine or phosphocysteamine in the United Kingdom up to May 1990. Treatment was started at a median age of 3.2 years (range 0.6-24.8 years) and continued for a median duration of 3.0 years (range 0.01-1.2 years). At the end of the study, 46 (78%) patients remained on treatment. One patient developed end-stage renal failure and 6 died. Efficacy was assessed in the 44 pre-transplant patients. The United Kingdom pre-transplant patients had significantly lower plasma creatinine concentrations at 6 and 8 years than a historical group of patients who did not receive cysteamine (P < 0.0001 and P < 0.0003, respectively). There was no significant difference between pretreatment and final post-treatment height standard deviation scores, suggesting maintenance of growth rate. The leucocyte cystine concentration was less than the accepted upper limit of the treatment range (1 nmol 1/2 cystine/mg protein) in only 21% of determinations. There was no significant difference between the mean pre-treatment and final values of leucocyte cystine concentration. The mean final doses of cysteamine (33 mg/kg per day) and phosphocysteamine (37 mg/kg per day base equivalent) were less than the mean dose (51 mg/kg per day) used in a United States multicentre trial. We conclude that cysteamine treatment was beneficial, but further improvements might be achieved by an improvement in monitoring of therapy.
van't Hoff
W G
WG
Medical Unit, Institute of Child Health, London, UK.
Gretz
N
N
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003539:Cystaphos / Q000627:therapeutic use*; D003543:Cysteamine / Q000627:therapeutic use*; D003553:Cystine / Q000097:blood; D003554:Cystinosis / Q000188:drug therapy* / Q000401:mortality / Q000503:physiopathology; D005260:Female; D006128:Growth / Q000187:drug effects; D006801:Humans; D007223:Infant; D007494:Ireland; D007677:Kidney Function Tests; D007962:Leukocytes / Q000378:metabolism; D008297:Male; D012189:Retrospective Studies; D006113:United Kingdom
D003553:Cystine; D003543:Cysteamine; D003539:Cystaphos