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2017 ; 6
(2
): 210-214
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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
): 210-214
PMID29019163
show 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.