Authors: Michael R BendelStenzel Julia Steinke Ranjan Dohil Youngki Kim
Publish Date: 2007/08/01
Volume: 23, Issue: 2, Pages: 311-315
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 2yearold girl with nephropathic cystinosis and severe gastrointestinal dysmotility was treated with intravenous iv administration of cysteamine hydrochloride HCl This is only the second report of longterm iv cysteamine therapy for nephropathic cystinosis Unlike the treatment in the previous case however treatment in our patient was limited by liver toxicity
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