Journal
CEN CASE REPORTS
Volume 6, Issue 2, Pages 210-214Publisher
SPRINGER JAPAN KK
DOI: 10.1007/s13730-017-0277-y
Keywords
Heterozygous Fabry disease; Enzyme replacement therapy; Agalsidase alfa; Agalsidase beta; Kidney biopsy; Pregnancy
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Fabry disease is a rare X-linked lysosomal storage disorder of glycosphingolipid catabolism caused by deficient activity of the lysosomal hydrolase alpha-galactosidase A (E-Gal A). A 20-year-old woman was referred to our hospital because of proteinuria and persistent macroscopic hematuria. Based on the typical renal pathological findings, deficient activity of the E-Gal A, and heterozygous mutation in the E-Gal A gene, she was diagnosed with Fabry disease. After 1 year of enzyme replacement therapy with agalsidase alfa at 0.2 mg/kg every other week, the patient's proteinuria and hematuria were disappeared. In our patient, enzyme replacement therapy with agalsidase alfa was observed to be safe and well-tolerated during her pregnancy, with no significant negative effects on her or her child. Here, we report clinical and pathological evaluations of a patient through repeat kidney biopsy after 6 years of enzyme replacement therapy. Furthermore, we discussed the appropriate enzyme replacement therapy and its safety in pregnant women with Fabry disease.
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