Erschienen in:
01.03.2016 | Case Report
Surges in proteinuria are associated with plasma GL-3 elevations in a young patient with classic Fabry disease
verfasst von:
Takahiro Kanai, Takane Ito, Jun Odaka, Takashi Saito, Jun Aoyagi, Hiroyuki Betsui, Takanori Yamagata
Erschienen in:
European Journal of Pediatrics
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Ausgabe 3/2016
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Abstract
Fabry disease is an X-linked glycosphingolipidosis caused by deficient synthesis of the enzyme α-galactosidase A, which results in accumulations of globotriaosylceramide (GL-3) in systemic tissues. Nephropathy is a dominant feature of Fabry disease. It still remains unclear how the nephropathy progresses. Recombinant agalsidase replacement therapy is currently the only approved, specific therapy for Fabry disease. The optimal dose of replacement enzyme also still remains unclear. The worldwide shortage of agalsidase-β in 2009 forced dose reduction of administration. It showed that the proteinuria emerged like surges, followed by temporary plasma GL-3 elevations in the early stages of classic Fabry disease. Additionally, it also showed that 1 mg/kg of agalsidase-β every other week could clear the GL-3 accumulations from podocytes and was required to maintain negative proteinuria and normal plasma GL-3 levels.
Conclusion: This observation of a young patient with classic Fabry disease about 5 years reveals that the long-term, low-dose agalsidase-β caused proteinuria surges, but not persistent proteinuria, followed by temporary plasma GL-3 elevations, and agalsidase-β at 1 mg/kg every other week could clear accumulated GL-3 from podocytes and was required to maintain normal urinalysis and plasma GL-3 levels.
What is Known:
• Patients with Fabry disease show GL-3 accumulations in podocytes and foot process effacement without proteinuria.
• The optimal dose of replacement enzyme (agalsidase-α or -β) remains unclear.
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What is New:
• The long-term, low-dose agalsidase-β caused proteinuria surge, but not persistent proteinuria, followed by temporary plasma GL-3 elevations
• Agalsidase-β at 1 mg/kg every other week could clear accumulated GL-3 from podocytes, and was required to maintain normal urinalysis and normal plasma GL-3 levels.
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