Fabry disease: a treatable lysosomal storage disorder.
Fabry disease is a lysosomal storage disease with an X-linked inheritance pattern, which presents in childhood as acroparaesthesias. Its non-specific symptoms often lead to delays in the diagnosis. We report the case of a 13-year-old boy who presented with typical acroparaesthesia of Fabry disease, his younger brother had gastrointestinal manifestations of the disease and their mother's symptoms suggested that she is a carrier. Enzyme replacement therapy helped in ameliorating the patient's symptoms and preventing complications such as renal failure, stroke and cardiovascular disorders.
Phadke
Shubha R
SR
Sanjay Gandhi Postgraduate Institute of Medical Sciences, Rae Bareli Road, Lucknow 226014, Uttar Pradesh, India. shubha@sgpgi.ac.in
Mandal
Kausik
K
Girisha
K M
KM
D000293:Adolescent; D000795:Fabry Disease / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use*; D016464:Lysosomal Storage Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D008297:Male; D011994:Recombinant Proteins / Q000627:therapeutic use*; D012307:Risk Factors; D000519:alpha-Galactosidase / Q000378:metabolism* / Q000627:therapeutic use
D007527:Isoenzymes; D011994:Recombinant Proteins; D000519:alpha-Galactosidase; C459420:agalsidase beta