Table 1.
Gene Mutation, Enzymatic Activity, and Clinical Manifestations of the 4 Groups of Patients With Fabry Disease
| Patient | Age y/Sex | Cardiac Symptoms | Extracardiac Manifestations | Enzymatic Activity nmol/h/mL (n.v >3) | Genotype |
|---|---|---|---|---|---|
| Group 1 | |||||
| 1 | 36/F | P, A | K | 4.6 | R220X |
| 2 | 20/M | P | Ap, Ak | 0 | R220X |
| 3 | 28/M | P | ··· | 0.5 | N215S |
| 4 | 35/M | P | Ap, Ak, K, E | 0 | Q279K |
| 5 | 39/F | P, A | ··· | 0.3 | N215S |
| 6 | 29/M | P | CV, Ap | 0.1 | G328R |
| 7 | 22/M | A | Ap, Ak, CV, K | 0 | c946delG |
| 8 | 25/M | P | Ap, Ak, CV, E | 0 | Q279K |
| 9 | 39/F | A, D | Ap, CV | 1.3 | C378Y |
| 10 | 44/F | P | CV | 0.9 | R220X |
| 11 | 31/M | P | ··· | 0.2 | N215S |
| 12 | 26/M | A | ··· | 0.3 | N215S |
| 13 | 37/F | A | CV, Ap | 3.5 | R227Q |
| Group 2 | |||||
| 1 | 38/M | D, P | K, Ap, CNS, E | 0 | G328R |
| 2 | 43/M | A, P | K, Ap, CNS | 0 | G238R |
| 3 | 46/F | P | CV, K | 2.5 | C223Y |
| 4 | 35/F | P | ··· | 6.3 | N215S |
| 5 | 38/F | A, P | ··· | 1.0 | N215S |
| 6 | 39/F | P | CV, Ap | 3.2 | R227Q |
| 7 | 60/F | D, P | CV, Ap | 0.5 | C223Y |
| 8 | 53/F | D, P | CV, Ap | 2.0 | R227Q |
| 9 | 36/F | A, D, P | K, Ap, CNS | 0 | C946delG |
| 10 | 28/M | P | CV, Ak, Ap | 0 | Q279K |
| 11 | 52/F | D, P | K, CV | 1.4 | C378Y |
| 12 | 42/M | D, P | K, Ap, E | 0 | R220X |
| 13 | 48/M | A | ··· | 0.2 | N215S |
| 14 | 38/M | A | K, CV, Ak | 0.1 | Q279K |
| 15 | 52/F | A | K, Ap, CNS | 4.6 | C378Y |
| 16 | 42/M | A, D | K, Ap, Ak, CV | 0 | R220X |
| 17 | 48/M | A, D | ··· | 0.3 | N215S |
| Group 3 | |||||
| 1 | 50/M | A, D, P | K, E, CV | 0 | R220X |
| 2 | 53/M | D | ··· | 0.9 | N215S |
| 3 | 45/M | D, P | CNS, E | 0 | Q279K |
| 4 | 59/F | D, P | ··· | 2.8 | N215S |
| 5 | 44/M | A, D, P | K, Ap, Ak, E | 0 | G328R |
| 6 | 58/F | D, P | CV | 1.2 | C223Y |
| 7 | 50/M | D | ··· | 0.3 | N215S |
| 8 | 41/M | A, D | Ap, E, CV | 0 | C378Y |
| 9 | 52/M | D, P | ··· | 0.5 | N215S |
| 10 | 39/M | D, P | ··· | 0.1 | N215S |
| 11 | 49/F | D, P | K, Ap | 5.6 | R227Q |
| 12 | 44/F | D | Ap, CV | 3.5 | C378Y |
| 13 | 60/M | A, D, P | K, CNS, Ap, E, CV | 0 | C946delG |
| 14 | 51/M | D, P | K, Ap, Ak, E, CV | 0 | Q279K |
| 15 | 53/M | D, P | K, Ap, Ak, E, CV | 0 | Q279K |
| 16 | 54/M | A, D, P | K, CNS, Ap, CV | 0.1 | R220X |
| 17 | 52/M | D, P | ··· | 0.2 | N215S |
| 18 | 59/F | A, D, P | K, CNS, Ap, Ak, E | 0.5 | C946delG |
| 19 | 39/M | P | K, Ap, Ak, E | 0 | Q279K |
| 20 | 46/M | A, P | K, Ap, CV | 0 | C378Y |
| 21 | 55/F | A, P | Ap, CNS, | 1.2 | R220X |
| 22 | 43/M | D | ··· | 0 | N215S |
| 23 | 44/M | D | K, Ak, E | 0 | C378Y |
| 24 | 44/M | D | K, CNS, CV, E | 0.2 | R220X |
| 25 | 47/M | D, P | ··· | 0.2 | N215S |
| 26 | 49/F | A, D, P | K, CNS, CV | 0.6 | C946delG |
| 27 | 39/M | A, P | K, Ap, Ak, E, CV | 0 | Q279K |
| 28 | 46/F | A, P | E, CV | 0 | C378Y |
| 29 | 55/F | A, P | E, CV | 1.6 | R220X |
| 30 | 63/M | A, D, P | ··· | 1.3 | N215S |
| Group 4 | |||||
| 1 | 55/M | A, D, P | K, Ak, CV, E | 0 | pR227X |
| 2 | 52/M | A, D, P | K, CNS, Ap, E | 0 | C427delACTT |
| 3 | 53/M | D, P | K, CNS, Ak, Ap, E | 0 | C946delG |
| 4 | 48/M | D, P | ··· | 0.2 | N215S |
| 5 | 53/M | A, D, P | K, Ap, E | 0 | Y216C |
| 6 | 57/F | A, D, P | K, Ap, E | 4.1 | Q279K |
| 7 | 62/M | D, P | K, Ak, Ap, E | 0.2 | R227Q |
| 8 | 50/F | A, D, P | K, CV, E, Ak, Ap, CNS | 0 | C946delG |
| 9 | 56/M | D, P | CV, Ak, Ap | 0 | Q279k |
| 10 | 47/M | A, D, P | K, Ak, Ap, CV, E, CNS, E | 0 | C946delG |
| 11 | 51/M | A, D, P | K, Ap, CV | 0 | Q279K |
| 12 | 60/F | D, P | K, Ap, Ak, CV | 0 | C946delG |
| 13 | 69/F | A, D, P | K, CV | 3.8 | Q279K |
| 14 | 48/M | A, D, P | K, Ap, Ak, CNS, CV, E | 0 | C946delG |
| 15 | 52/M | D, P | K, Ap, E | 0 | pR227X |
| 16 | 54/F | D, P | ··· | 0 | N215S |
| 17 | 53/F | D, P | K, E | 5.1 | R22XQ |
| 18 | 52/M | D, P | K, Ap, Ak, E | 4.8 | C378Y |
A indicates angina; Ak, angiokeratoma; Ap, acroparesthesia; CNS, central nervous system (transient ischemic attack and/or stroke and/or progressive white matter lesions and/or dolichoectasia of the basilar artery); CV, cornea verticillata; D, dyspnea; E, ear; F, female; K, kidney involvement (ie, pathological microalbuminuria, and/or proteinuria and/or estimated glomerular filtration rate reduction); M, male; P, palpitation.