Table 1.
Characteristics of three patients with a positive result in the lyso-Gb3 screen
| Case 1 | Case 2 | Case 3 | |
|---|---|---|---|
| Age (yr) | 28 | 49 | 74 |
| Cause of CKD | Fabry disease | Focal glomerulosclerosis | Chronic GN |
| Age dialysis started (yr) | 27 | 30 | 58 |
| Plasma α-Gal A (nmol/h per milliliter) | 1.3 | 2.9 | 2.3 |
| Plasma lyso-Gb3 (nM) | 128 | 3.1 | 1.9 |
| GLA mutation | |||
| Nucleotide change | c.519C>A | c.196G>C | c.196G>C |
| Amino acid change | p.Y173X | p.E66Q | p.E66Q |
| MSSI | 32 | 30 | 30 |
| ERT started | Yes | No | No |
The cause of CKD in case 1 was considered unknown before study participation. GLA, α-galactosidase A gene; MSSI, Mainz Severity Score Index; ERT, enzyme replacement therapy.