Table 1 Demographic and clinical characteristics of 10 diagnosed FD patients
ID | Age at diagnosis (years) | Age at first symptom (years) | Sex | Proband α-Gal A (normal > 2.4 umol/l/h) | Proband lyso-GL-3 (normal < 1.11 ng/ml) | GLA NM_000169.2 Nucleotide alteration, Protein change | Zygosity (Segregation) | ACMG classification | Phenotypes from pedigree analysis | α-Gal A from pedigree analysis (normal > 2.4 umol/l/h) | Lyso-GL-3 from pedigree analysis (normal < 1.11 ng/ml) | Treatment | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERT | Adjunctive treatment | ||||||||||||
01 | 0.7 | 0.7 | Male | 0.4 | 32.63 | c.195-1G > A | Hemi (F, WT;Aff. M, het) | LP | Pain | 1.21 | 8.24 | No | Potassium citrate |
02 | 7.2 | 3.6 | Female | 3.7 | 1.69 | c.640-801G > A (also known as IVS4 + 919 G > A) | Het (Aff. F, Hemi; M, WT) | P | Sinus arrhythmia, High left ventricular voltage | 1.24 | 3.43 | No | Topiramate |
03 | 11.4 | 8.4 | Male | 0.42 | 100.48 | c.277 G > A, p.Asp93Asn | Hemi (F, WT; Aff. M, het) | P | None | 0.57 | 7.60 | No | None |
04 | 10.4 | 3.5 | Male | 0.41 | 92.98 | c.140G > A, p.W47X | Hemi (F, WT; Aff. M, het) | LP | Pain | NA | 6.17 | Yes | Oxcarbazepine |
05 | 16.0 | 16.0 | Male | 0.23 | 2.29 | c.335 G > A, p.R112H | Hemi (F, WT; Aff. M, het) | LP | None | NA | 1.00 | No | None |
06 | 0.1 | N | Male | 1.64 | < 0.55 | c.257A > T, p.Y86T | Hemi (F, NA; Aff. M, het) | LP | Pain | 2.73 | 2.77 | No | None |
07 | 0.3 | N | Male | 1.42 | < 0.55 | c.215 T > C, p.M72T (novel variant) | Hemi (F, WT; Aff. M, het) | LP | None | NA | < 0.55 | No | None |
08 | 15.6 | 11.7 | Male | 0.25 | 76.06 | c.974G > A, p.G325D | Hemi (F, NA; Aff. M, het) | P | None | NA | 4.56 | Yes | ARB, Carbamazepine, Calcitriol, Ketoacid, Febuxostat, Psychiatry referral |
09 | 13.6 | 7.5 | Male | 0.3 | 104.76 | c.100A > C, p.Asn34His | Hemi (F, WT; Aff. M, het) | LP | Pain, Dermatological angiokeratoma, Corneal verticillata, Hypertension, Left ventricular hypertrophy, Diarrhea | NA | ND | Yes | Carbamazepine, Psychiatry referral |
10 | 15.7 | 4.5 | Male | 0.26 | 113.57 | c.679C > T, p.Arg227X | Hemi (F, NA; Aff. M, het) | P | Proteinuria | NA | NA | Yes | ACEI, Carbamazepine |