Abstract
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.
MeSH terms
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Chemical and Drug Induced Liver Injury* / diagnosis
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Chemical and Drug Induced Liver Injury* / etiology
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Combined Modality Therapy
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Cysteamine / adverse effects
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Cysteamine / therapeutic use*
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Cystinosis / complications
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Cystinosis / physiopathology
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Cystinosis / therapy*
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Drug Therapy, Combination
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Female
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Gastrointestinal Diseases / complications
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Gastrointestinal Diseases / pathology
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Gastrointestinal Diseases / physiopathology
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Gastrointestinal Motility / drug effects
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Gastrointestinal Motility / physiology
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Humans
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Hypothyroidism / complications
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Infant
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Injections, Intravenous
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Kidney Transplantation
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Radiation-Protective Agents / adverse effects
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Radiation-Protective Agents / therapeutic use*
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Renal Insufficiency / etiology
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Renal Insufficiency / surgery
Substances
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Radiation-Protective Agents
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Cysteamine