Table 2.

Categorization of genotype Fabry registry patients grouped by renal disease progression status

MenWomen
Faster Progression (eGFR Slope ≤ −1)Slower Progression (eGFR Slope > −1)Faster Progression (eGFR Slope ≤ −1)Slower Progression (eGFR Slope > −1)
Mutation type, n (%)
    nonsense11 (12.8)1 (2.9)17 (12.8)16 (7.7)
    missense39 (45.3)22 (62.9)73 (54.9)117 (56.3)
    splice site4 (4.7)01 (0.8)6 (2.9)
    frameshift8 (9.3)2 (5.7)8 (6.0)12 (5.8)
    large deletion1 (0.5)
    initiator codon1 (2.9)1 (0.5)
    small deletion (no frameshift)2 (2.3)1 (2.9)4 (3.0)4 (1.9)
    small insertion (no frameshift)4 (1.9)
    other1 (1.2)
Unable to categorize genotype7 (8.1)2 (5.7)13 (9.8)34 (16.3)
Not reported14 (16.3)6 (17.1)17 (12.8)13 (6.3)