[First Polish experience with enzyme replacement therapy in patients with Fabry disease].
We report here the course and outcomes of 18-month enzyme replacement therapy in two 43 and 41-year-old brothers with Fabry disease. At 18 months of recombinant alpha-galactosidase A (Fabrazyme) infusions, we observed in the older patient: weight gain, decreased proteinuria (from 4 to 1.5 g/d), stabilization of creatinine clearance, much lower frequency and intensity of angina, and in the younger brother: weight gain, stabilization of creatinine clearance and proteinuria, prolongation of PQ interval and improvement of hearing. However, neurologic manifestations deteriorated over treatment period in both patients. No serious infusion-related side effects were observed.
Undas
Anetta
A
II Katedra Chorób Wewnetrznych CM UJ, Krakowie.
Ryś
Donata
D
Brzeńziiska-Kolarz
Beata
B
Padjas
Agnieszka
A
Musiał
Jacek
J
D000328:Adult; D000795:Fabry Disease / Q000150:complications / Q000188:drug therapy* / Q000201:enzymology* / Q000235:genetics; D016523:Foot Ulcer / Q000188:drug therapy / Q000209:etiology; D006319:Hearing Loss, Sensorineural / Q000188:drug therapy / Q000209:etiology; D006339:Heart Rate / Q000187:drug effects; D006801:Humans; D007262:Infusions, Intravenous; D007527:Isoenzymes / Q000008:administration & dosage*; D007677:Kidney Function Tests; D008297:Male; D009460:Neurologic Examination; D011044:Poland; D013997:Time Factors; D016896:Treatment Outcome; D015430:Weight Gain; D000519:alpha-Galactosidase / Q000008:administration & dosage*
D007527:Isoenzymes; D000519:alpha-Galactosidase; C459420:agalsidase beta