From: Diagnosing Fabry nephropathy: the challenge of multiple kidney disease
Patient No | Sex | Age | Kinship | Mutation in GLA gene | Alpha-galactosidase A activity (nmol/ml/h) Normal range: > 3.0 | LysoGb3 in plasma (nmol/l) Normal range: < 2.3 |
---|---|---|---|---|---|---|
1 | M | 51 | Index Case | p.E358K hemizygote | 0.2 | 117.19 |
2 | F | 14 | Daughter of Index Case | p.E358K heterozygote | 11.9 | 6.74 |
3 | F | 9 | Daughter of Index Case | p.E358K heterozygote | 12.1 | 3.82 |
4 | F | 49 | Sister of Index Case | wt | 16.0 | 1.15 |
5 | F | 45 | Sister of Index Case | wt | 20.2 | 1.15 |
6 | F | 72 | Mother of Index Case | wt | 17.3 | 1.40 |