ArticleCEN case reports2017
Enzyme replacement therapy in a patient of heterozygous Fabry disease: clinical and pathological evaluations by repeat kidney biopsy and a successful pregnancy.
Article in CEN case reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 13 citations in OpenAlex.
- Article
- Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.Molecular genetics & genomic medicine · 2020Article
- Maternal genetic diseases: potential concerns for mother and baby.Human genetics · 2020Review
- Fabry disease screening in high-risk populations in Japan: a nationwide study.Orphanet journal of rare diseases · 2020Article
- Future clinical and biochemical predictions of Fabry disease in females by methylation studies of theMolecular genetics and metabolism reports · 2019Article
- Impact of pregnancy on inborn errors of metabolism.Reviews in endocrine & metabolic disorders · 2018Review
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease is a rare X-linked lysosomal storage disorder of glycosphingolipid catabolism caused by deficient activity of the lysosomal hydrolase alpha-galactosidase A (ɑ-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 ɑ-Gal A, and heterozygous mutation in the ɑ-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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