Case Report: Decade long Cysteamine Therapy for Intermediate Cystinosis
Japan: A recent case report published in BMC Nephrology sheds light on the long-term management of intermediate cystinosis with a decade-long cysteamine therapy. This rare and insightful case highlights the effectiveness of early diagnosis and sustained treatment in stabilizing renal function in affected patients.
Intermediate cystinosis, a rare lysosomal storage disorder, poses diagnostic challenges due to its diverse clinical presentations and slower progression compared to nephropathic cystinosis. This condition affects roughly 5% of cystinosis cases and can lead to end-stage kidney disease (ESKD) if diagnosis and treatment are delayed. Unlike other types, intermediate cystinosis may not present with classic symptoms like Fanconi syndrome or ocular manifestations, making diagnosis challenging. Additionally, the management of this condition can be complicated, as cystine-depleting medications such as cysteamine are difficult for many patients to tolerate due to complex administration requirements and side effects. The report details a case of intermediate cystinosis successfully managed with a decade-long course of cysteamine treatment.
Daisuke Katagiri, Center Hospital of the National Center for Global Health and Medicine (NCGM), Tokyo, Japan, and colleagues described the case of a patient who initially showed urinary abnormalities at age three during a routine health examination for children—a screening unique to Japan. Cystinosis was confirmed when the patient turned 12, leading to the initiation of cysteamine therapy and regular monitoring of cystine levels.
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