Article Figures & Data
Figures
- Figure 1.
(A) Upper histogram. Plasma α-galactosidase results in the study cohort of patients with chronic kidney disease (CKD; n = 499; observed range of activities 1.6 to 23.8 nmol/h per ml plasma; median 5.5; mean 5.8). Eleven patients had α-galactosidase activity below the second percentile of this group (<3.0 nmol/h per ml plasma). (B) Lower histogram. Plasma α-galactosidase in healthy control subjects (n = 44; observed range of activities 3.0 to 8.1 nmol/h per ml plasma; median 5.2; mean 5.2).
Tables
Variable CKD HD PD TP Total 141 159 59 138 Age (yr) 63 67 60 49 Diabetes (%) 42 38 37 33 CVD (%) 48 67 47 23 Race (%) White 71 28 43 65 Asian 15 59 38 21 Southeast Asian 11 12 16 10 Native Canadian 1 1 3 2 Other 2 1 1 3 ↵a There were no significant differences in race, age, and presence of diabetes or cardiovascular disease between the study cohort and the entire male chronic kidney disease (CKD) population in Vancouver, BC. CVD, cardiovascular disease; HD, hemodialysis; PD, peritoneal dialysis; TP renal transplant.
- Table 2.
Comparison of α-galactosidase activity assayed from healthy individuals in the presence and absence of GalNAc inhibitora
Parameter Total α-Galactosidase (Assayed without Inhibitor) α-Galactosidase A (Assayed with 100 mM GalNAc) α-Galactosidase B (by subtraction) α-Galactosidase B as % of Total Plasma (nmol/h per ml plasma; n = 20 individuals) mean 5.3 5.0 0.3 6.0 median 5.3 4.9 0.3 6.1 observed range 3.4 to 7.1 3.1 to 7.0 0.0 to 1.0 0.0 to 18.1 Leucocytes (nmol/h per mg protein; n = 30 individuals) mean 81.7 79.3 2.3 2.8 median 77.3 77.7 2.0 3.0 observed range 49.9 to 126.3 47.2 to 124.3 0.0 to 8.0 0.0 to 7.6 ↵a GalNAc, N-acetylgalactosamine.
- Table 3.
Activities of α -galactosidase in leukocytes and plasma of five renal patients who had low plasma α-galactosidase activity in the initial screening phase of the studya
Patient Leukocytes (nmol/h per mg protein) Plasma (nmol/h per ml) Initial Result (No GalNAc Inhibitor) Results on Recall Initial Result (No GalNAc Inhibitor) Results on Recall Total Total A Total Total A 1 66.7 51.0 51.3 1.6 2.3 1.5 2 125.0 89.7 87.2 2.8 5.8 5.6 3 73.6 60.1 55.9 2.9 5.9 5.6 4 94.1 60.3 60.0 2.9 4.5 4.1 5 58.8 34.7 33.7 2.5 4.5 4.1 ↵a In the initial phase, only total α-galactosidase activity was measured. When these patients were recalled for a second time, assays were performed both without and with 100 mM GalNAc inhibitor (thus measuring “Total” and “A” activity, respectively). Reference range for total activity in leukocytes 42.1 to 112.9 nmol/h per mg protein; reference range for total activity in plasma 3.0 to 8.1 nmol/h per ml.
- Table 4.
α-Galactosidase activities in plasma and leukocytes from three known patients with Fabry diseasea
Patient Plasma (nmol/h per ml) Leukocytes (nmol/h per mg protein) Total A B Total A B 1 0.6 0.0 0.6 12.6 6.9 5.7 2 3.6 3.6 0.0 9.3 5.2 4.1 3 8.0 7.2 0.7 3.9 2.3 1.7 ↵a Activities were assayed in the absence and presence of 100 mM GalNAc inhibitor (thus measuring “Total” and “A,” respectively). Reference range for total activity in leucocytes 42.1 to 112.9 nmol/h per mg protein; reference range for total activity in plasma 3.0 to 8.1 nmol/h per ml.
In this issue
Jump to section
More in this TOC Section
Cited By...
- Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017
- Challenges in the Diagnosis of Anderson-Fabry Disease: A Deceptively Simple and Yet Complicated Genetic Disease
- Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y
- A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
- Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine
- Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study
- Screening for Fabry disease in high-risk populations: a systematic review
- Dialysis and Transplantation in Fabry Disease: Indications for Enzyme Replacement Therapy