-Report on Experiments and Clinical Cases-

An Asymptomatic Heterozygous Female with Fabry Disease: Implications for Enzyme Replacement Therapy

Shin-ichiro Inagaki¹, Makoto Migita^1,2, Mari Hayakawa¹, Atushi Fujita¹, Junko Yoshida¹, Masamichi Ishizaki³, Masaharu Kotani⁴, Hitoshi Sakuraba⁴, Takashi Shimada², Mutsumi Murakami¹ and Yoshitaka Fukunaga¹

¹Department of Pediatrics, Nippon Medical School
²Department of Molecular and Medical Genetics, Nippon Medical School
³Department of Pathology, Nippon Medical School
⁴Department of Clinical Genetics, the Tokyo Metropolitan Institute of Medical Science

We report an asymptomatic female with Fabry disease immunohistochemically diagnosed by renal biopsy. She was initially diagnosed as having nephrotic syndrome, and renal biopsy was performed for pathological diagnosis. The renal specimen revealed non-specific findings (minor glomerular abnormalities) for nephrotic syndrome. Numerous laminated bodies in glomerular epithelial cells in electron microscopic findings and accumulations of ceramidetrihexoside immunohistochemically were observed and she was diagnosed with Fabry disease. However, no other laboratory data or clinical findings supported the diagnosis of Fabry disease. Since the efficacy of recombinant human alpha-galactosidase replacement therapy in this disease has been reported, whether enzyme replacement therapy for subclinical Fabry female patients is indicated or not is an important issue.

J Nippon Med Sch 2005; 72: 387-390

Keywords
Fabry disease, enzyme replacement therapy, asymptomatic heterozygote, immunohistochemical diagnosis

Correspondence to
Makoto Migita, MD, PhD, Department of Pediatrics, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo 113-8603, Japan
Migita-Makoto-bmb@nms.ac.jp

Received, July 22, 2005
Accepted, October 6, 2005