[Clinical stability of Fabry disease in 54 months' enzyme replacement therapy--follow-up of the first Polish study].
We present outcomes of 54 months' agalsidase beta enzyme replacement therapy of two 48- and 46-year-old brothers with Fabry disease. The diagnosis was confirmed in 1997, and at that moment serious damage of internal organs was observed. During enzyme replacement therapy in both brothers the following changes were observed: amelioration of gastrointestinal symptoms, gain of body weight and reduction of cardiac hypertrophy in ECG. In older brother we observed: improvement in coronary blood flow, absence of angina pectoris, dyspnea, partial remission of headache and acroparaesthesia. Reduction of proteinuria, stabilization of creatinine clearance and appearance of perspiration were also noticed. In a younger brother, with a milder form of disease, we observed: improvement of hearing and vertigo, headache reduction, as well as stabilization of kidney function (although proteinuria was slightly increased). Unfortunately, acroparaesthesia and muscle pains in the legs became more severe. Enzyme replacement therapy in Fabry disease, even started in late adulthood, is effective by stabilizing organ function and markedly improving of quality of life.
Bazan-Socha
Stanisława
S
II Katedra Chorób Wewnetrznych, Collegium Medicum Uniwersytetu Jagiellońskiego, Kraków. mmsocha@cyf-kr.edu.pl
Miszalski-Jamka
Tomasz
T
Petkow-Dimitrow
Paweł
P
Musiał
Jacek
J
D057487:Enzyme Therapy; D000795:Fabry Disease / Q000188:drug therapy* / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use*; D008297:Male; D008875:Middle Aged; D013997:Time Factors; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000627:therapeutic use*
D007527:Isoenzymes; D000519:alpha-Galactosidase; C459420:agalsidase beta