TY - JOUR
T1 - Intravenous delivery of cysteamine for the treatment of cystinosis
T2 - Association with hepatotoxicity
AU - Bendel-Stenzel, Michael R.
AU - Steinke, Julia
AU - Dohil, Ranjan
AU - Kim, Youngki
PY - 2008/2
Y1 - 2008/2
N2 - Nephropathic cystinosis is a lysosomal storage disorder, which, if untreated, results in renal failure by age 10 years. Oral cysteamine has been shown to preserve renal function in these patients. In this study, a 2-year-old girl with nephropathic cystinosis and severe gastrointestinal dysmotility was treated with intravenous (i.v.) administration of cysteamine hydrochloride (HCl). This is only the second report of long-term i.v. cysteamine therapy for nephropathic cystinosis. Unlike the treatment in the previous case, however, treatment in our patient was limited by liver toxicity.
AB - Nephropathic cystinosis is a lysosomal storage disorder, which, if untreated, results in renal failure by age 10 years. Oral cysteamine has been shown to preserve renal function in these patients. In this study, a 2-year-old girl with nephropathic cystinosis and severe gastrointestinal dysmotility was treated with intravenous (i.v.) administration of cysteamine hydrochloride (HCl). This is only the second report of long-term i.v. cysteamine therapy for nephropathic cystinosis. Unlike the treatment in the previous case, however, treatment in our patient was limited by liver toxicity.
KW - Drug-induced hepatitis
KW - Gastrointestinal dysmotility
KW - Hypothyroidism
KW - Nephropathic cystinosis
KW - Renal failure
UR - http://www.scopus.com/inward/record.url?scp=38349051505&partnerID=8YFLogxK
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U2 - 10.1007/s00467-007-0529-8
DO - 10.1007/s00467-007-0529-8
M3 - Article
C2 - 17668247
AN - SCOPUS:38349051505
SN - 0931-041X
VL - 23
SP - 311
EP - 315
JO - Pediatric Nephrology
JF - Pediatric Nephrology
IS - 2
ER -
