The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels

摘要: Background: Fabry disease (OMIM 301500) is an X-linked lysosomal storage disorder with characteristic vascular, renal, cardiac and cerebral complications. Globotriaosylceramide (Gb3) accumulates in patients as a result of α-galactosidase A deficiency. The phenotypic variability high, but the relationship between clinical symptoms individual has not been uniformly documented. Also, relation most prominent biochemical abnormalities, elevated Gb3 levels plasma urine, firmly established. Methods: Clinical characteristics 96 (25 deceased) Dutch were collected retrospectively before initiation enzyme therapy. Results: assessment revealed that median life expectancy was 57 years for male 72 female patients. Cerebral complications, acroparaesthesias gastrointestinal auditory all seen more frequently than Glomerular filtration rate (GFR) highly variable patients, including 2 GFR < 30 ml/min, did differ males females (103 101 respectively). Hyperfiltration observed patient group. Microalbuminuria present 60% 45% females. No specific pattern combined existed except left ventricular hypertrophy (LVH) complications (males 36%, 32%), or proteinuria 35%, 31%). found to be samples from (n = 26; 6.27 μmol/L (1.39–9.74)) 37; 2.16 (0.77–4.18)). This also urinary Gb3: 22) 1851 nmol/24 h (40–3724); 29) 672 (86–2052). Plasma correlated each other both (r 0.4, p 0.05) 0.03), no correlation could detected. Conclusion: Analysis cohort limited various manifestations exists do correlate levels, limiting their value surrogate markers.