Publications by authors named "Donata Rys"
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.
View Article and Find Full Text PDFArticle Synopsis
- - A 22-year-old man experienced a myocardial infarction, which was his first symptom indicating systemic lupus erythematosus (SLE) and antiphospholipid syndrome.
- - The diagnosis of the heart attack was supported by an ECG, enzyme tests, and technetium 99 scintigraphy, despite normal findings in coronary angiography.
- - The authors suggest that the heart attack in patients with SLE may result from a mix of small blood vessel clots and inflammation caused by antiphospholipid syndrome.
Article Synopsis
- * MRI scans of his brain showed typical signs of Fabry disease alongside other symptoms like skin lesions (angiokeratoma), mild protein loss in urine, and swelling in the legs (lymphoedema).
- * Additional health issues included a heart condition with increased muscle mass (myocardial hypertrophy) and a pre-excitation syndrome affecting heart rhythm.