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Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain.
Mol Genet Metab. 2013 Nov; 110(3):405-10.MG

Abstract

Enzyme replacement therapy (ERT) for Fabry disease does not show a clear benefit in angiokeratoma. We describe two Japanese siblings with Fabry disease, who were diagnosed when angiokeratomas were found on the older sibling at the age of 13 years. Neither of the boys complained of pain, while both suffered from hypohidrosis. We evaluated the safety and efficacy of ERT with recombinant human agalsidase alfa (Replagal®, Dainippon-Sumitomo Pharma. Co., Osaka, Japan) in these siblings over a 5-year period. In both siblings, sweating was observed 3 months after the initiation of ERT, which motivated them to adhere to ERT. Pain sensation was regained after 12 to 36 months of ERT, followed by a decrease after 48 to 60 months. Angiokeratomas on the lateral side of the knee of the older sibling partially disappeared after 48 months of ERT. Although the height of both siblings at baseline was lower than the corresponding average age-related heights in the normal Japanese population, during ERT they were within, or close to, the average +1 standard deviation in the non-Fabry population. Their growth rate seemed to indicate catch-up growth. Other clinical symptoms were maintained at baseline levels. Immunoglobulin G anti-agalsidase alfa antibodies were not detected in both sibling during ERT, and no infusion-associated reaction was observed. The treatment was generally well tolerated. ERT was a safe and effective treatment for angiokeratoma and neuropathic pain for these two siblings with Fabry disease.

Authors+Show Affiliations

Department of Pediatrics, Okayama Medical Center, Okayama, Japan. Electronic address: fuhkun@okayama3.hosp.go.jp.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

23906479

Citation

Furujo, Mahoko, et al. "Enzyme Replacement Therapy in Two Japanese Siblings With Fabry Disease, and Its Effectiveness On Angiokeratoma and Neuropathic Pain." Molecular Genetics and Metabolism, vol. 110, no. 3, 2013, pp. 405-10.
Furujo M, Kubo T, Kobayashi M, et al. Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain. Mol Genet Metab. 2013;110(3):405-10.
Furujo, M., Kubo, T., Kobayashi, M., & Ohashi, T. (2013). Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain. Molecular Genetics and Metabolism, 110(3), 405-10. https://doi.org/10.1016/j.ymgme.2013.07.005
Furujo M, et al. Enzyme Replacement Therapy in Two Japanese Siblings With Fabry Disease, and Its Effectiveness On Angiokeratoma and Neuropathic Pain. Mol Genet Metab. 2013;110(3):405-10. PubMed PMID: 23906479.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain. AU - Furujo,Mahoko, AU - Kubo,Toshihide, AU - Kobayashi,Masahisa, AU - Ohashi,Toya, Y1 - 2013/07/14/ PY - 2013/05/13/received PY - 2013/07/08/revised PY - 2013/07/08/accepted PY - 2013/8/3/entrez PY - 2013/8/3/pubmed PY - 2014/5/9/medline KW - Agalsidase alpha KW - BPI KW - Brief Pain Inventory KW - Child KW - Cre KW - EF KW - ERT KW - Enzyme replacement therapy (ERT) KW - Fabry disease KW - GSL KW - Gb3 KW - LVMI KW - MRI KW - creatinine KW - eGFR KW - ejection fraction KW - enzyme replacement therapy KW - estimated glomerular filtration rate KW - globotriaosyl ceramide KW - glycosphingolipids KW - left ventricular mass index KW - magnetic resonance imaging SP - 405 EP - 10 JF - Molecular genetics and metabolism JO - Mol Genet Metab VL - 110 IS - 3 N2 - Enzyme replacement therapy (ERT) for Fabry disease does not show a clear benefit in angiokeratoma. We describe two Japanese siblings with Fabry disease, who were diagnosed when angiokeratomas were found on the older sibling at the age of 13 years. Neither of the boys complained of pain, while both suffered from hypohidrosis. We evaluated the safety and efficacy of ERT with recombinant human agalsidase alfa (Replagal®, Dainippon-Sumitomo Pharma. Co., Osaka, Japan) in these siblings over a 5-year period. In both siblings, sweating was observed 3 months after the initiation of ERT, which motivated them to adhere to ERT. Pain sensation was regained after 12 to 36 months of ERT, followed by a decrease after 48 to 60 months. Angiokeratomas on the lateral side of the knee of the older sibling partially disappeared after 48 months of ERT. Although the height of both siblings at baseline was lower than the corresponding average age-related heights in the normal Japanese population, during ERT they were within, or close to, the average +1 standard deviation in the non-Fabry population. Their growth rate seemed to indicate catch-up growth. Other clinical symptoms were maintained at baseline levels. Immunoglobulin G anti-agalsidase alfa antibodies were not detected in both sibling during ERT, and no infusion-associated reaction was observed. The treatment was generally well tolerated. ERT was a safe and effective treatment for angiokeratoma and neuropathic pain for these two siblings with Fabry disease. SN - 1096-7206 UR - https://www.unboundmedicine.com/medline/citation/23906479/Enzyme_replacement_therapy_in_two_Japanese_siblings_with_Fabry_disease_and_its_effectiveness_on_angiokeratoma_and_neuropathic_pain_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(13)00230-8 DB - PRIME DP - Unbound Medicine ER -