[Enzyme replacement therapy for Gaucher disease introduced in late adulthood].
Gaucher disease is the most prevalent lysosomal storage disorder caused by recessive mutation of the beta-glucocerebrosidase gene, which leads to massive lysosomal accumulation of glucocerebrosids especially in macrophages of bone marrow, liver and spleen. The most common presenting signs and symptoms are hepatosplenomegaly, bone pain, pathologic fractures, fatigue, bleeding tendency and recurrent infections. Regular enzyme replacement therapy which is available since 1992 in Hungary successfully reverses the symptoms of the disorder, including hematological abnormalities, bone infiltration and hepatosplenomegaly. Authors present here two cases diagnosed in late adulthood to emphasize the importance of early diagnosis and treatment.
Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Infektológiai és Gyermekimmunológiai Tanszék Debrecen Nagyerdei krt.
Pálma
P
Juhász
Beáta
B
Tóth
László
L
Maródi
Melinda
M
Erdos
D000369:Aged, 80 and over; D015415:Biomarkers / Q000097:blood; D001842:Bone and Bones / Q000473:pathology*; D056947:Enzyme Replacement Therapy / Q000379:methods; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D006529:Hepatomegaly / Q000235:genetics; D006801:Humans; D006814:Hungary; D008168:Lung / Q000473:pathology*; D008875:Middle Aged; D009154:Mutation; D012042:Registries; D013163:Splenomegaly / Q000235:genetics; D001617:beta-Glucosidase / Q000097:blood / Q000235:genetics / Q000627:therapeutic use*
D015415:Biomarkers; D001617:beta-Glucosidase