Novel α-Galactosidase A Mutation (K391E) in a Young Woman With Severe Cardiac and Renal Manifestations of Fabry Disease.
Fabry disease, an X-linked lysosomal storage disorder due to α-galactosidase A deficiency, is associated with dysfunction of various cell types and results in a systemic vasculopathy. We describe a 29-year-old woman with Fabry disease presenting with severe cardiac and renal manifestations. Gene analysis demonstrated a novel mutation (K391E) in the GLA gene. Enzyme replacement therapy (ERT) was started with agalsidase-β after confirming the diagnosis of Fabry disease, resulting in normalization of LV systolic function and improvement of renal function. As early therapy is crucial for preventing life-threatening sequelae, clinicians should consider Fabry disease in young patients presenting with cardiac and renal disease without any likely causes.
Department of General Medicine and Health Science, Nippon Medical School.
Hiroaki
H
Wakakuri
Shunichi
S
Nakamura
Kouichi
K
Utsumi
Wataru
W
Shimizu
Masahiro
M
Yasutake
D000328:Adult; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006331:Heart Diseases / Q000209:etiology; D006801:Humans; D009154:Mutation / Q000235:genetics*; D051436:Renal Insufficiency, Chronic / Q000209:etiology; D000519:alpha-Galactosidase / Q000235:genetics*
D000519:alpha-Galactosidase