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10.1007/s13730-017-0277-y

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C5694414!5694414!29019163
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suck abstract from ncbi


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pmid29019163      CEN+Case+Rep 2017 ; 6 (2): 210-4
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  • Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy #MMPMID29019163
  • Iwafuchi Y; Maruyama H; Morioka T; Noda S; Nagata H; Oyama Y; Narita I
  • CEN Case Rep 2017[Nov]; 6 (2): 210-4 PMID29019163show ga
  • Fabry disease is a rare X-linked lysosomal storage disorder of glycosphingolipid catabolism caused by deficient activity of the lysosomal hydrolase alpha-galactosidase A (?-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 ?-Gal A, and heterozygous mutation in the ?-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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