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. 2020 Mar 3;31(4):865–875. doi: 10.1681/ASN.2019050497

Table 1.

Clinical and renal functional characteristics in male patients with classic Fabry disease

Case Age (yr) Protein Change cDNA Mutation Mutation Category α-Gal-A Activity (%LNL) Plasma GL3 GFR UPER RAAS Blockade Nonrenal Fabry Features
1 4 p.(Tyr216Asp) c.646T>G Missense NK NK 92 NK N NK
2 5 p.(Arg112Cys) c.334C>T Missense 0% NK 122 0.460 N None
3 7 p.(Met267Arg) c.800T>G Missense 14% 7.5 106 0.250 N CO, PN, GI
4 11 p.(His302Alafs*13) c.903_904insG Frameshift 0% NK 121 0.150 N NK
5 11 NK NK NK 20% NK NK 0 N CO, AK
6 12 NK NK NK 38% NK NK 0.039 N CO, AK
7 13 NK NK NK 0% NK 122 0.169 N NK
8 15 NK NK NK 3% NK 93 0.082 N NK
9 15 NK NK NK 0% NK 103 0.088 N NK
10 15 NK NK NK 3% NK 134 0.079 N NK
11a 15 NK NK NK NK NK NK 0.350 N CO, AK, PN
12 16 p.(Arg404del) c.1212_1214delAAG Deletion 49% 13.4 112 0.090 N CO, AK, PN, GI
13 17 p.(Arg227Ter) c.679C>T Nonsense 2% 17.1 190 0.229 N CO, AK, PN
14 17 p.(Asn272Lys) c.816C>A Missense 2% NK 107 0.110 N PN, GI
15 17 NK NK NK 0% NK 97 0.082 N NK
16 17 NK NK NK 3% NK 127 0.069 N NK
17 18 p.(Met267Arg) c.800T>G Missense 19% 4.8 96 0.220 N CO, AK, PN, GI
18 18 p.(Arg227Ter) c.679C>T Nonsense 2% 19.3 156 0.167 N CO, AK, PN
19 20 NK c.802–3_802-2delCA Intronic deletion/ splicing 3% NK 153 0.167 N CO, AK
20 20 p.(Arg220Lys) c.658C>T Nonsense 2% 7.7 70 0.211 Y CO, AK, PN
21 20 p.(Asn272Lys) c.816C>A Missense <24% 27.3 131 0.024 N CO, AK, PN, GI
22 21 p.(Arg227Ter) c.679C>T Nonsense 2% 15.8 130 0.102 N AK, PN, GI
23 21 p.(Arg227Ter) c.679C>T Nonsense NK 2 289 0.140 N CO, PN, GI
24 23 p.(Asn298Lysfs*2) c.893_894insG Insertion 6% 7 112 0.102 N CO, AK, GI
25 23 NK NK NK 5% 8.5 178 NK N CO, AK, LVH, PN
26 23 p.(Gly132Arg) c.394G>A Missense <24% 9.9 88 NK N CO, AK,
27 23 p.(Arg404del) c.1212_1214delAAG Deletion 14% 8.5 113 0.240 N CO, PN, GI
28 23 NK NK NK 6% 10.5 148 NK N CO, AK, PN
29 24 NK NK NK 4% 20 126 0.140 N CO, AK, PN
30 25 NK NK NK <24% 13.9 146 0.402 N CO, AK, AR, PN, GI
31 25 NK NK NK 6% NK 110 NA N CO, AK
32 25 p.([Asp55Val; Gln57Leu]) c.(164A>T; 170A>T) Double missense 0% NK 114 0.018 NK NK
33 26 p.(Trp204Ter) c.612G>A Nonsense 6% 9.9 96 NK N CO, AK, PN, GI
34 30 p.(Arg404del) c.1212_1214delAAG Deletion 28% 10.2 86 0.220 N CO, AK, PN, GI
35 31 NK c.639+4A>T Splicing 3% 5.3 167 1.150 N CO
36 33 p.(Asp244Asn) c.730G>A Missense NK NK 115 0.023 NK NK
37 33 p.(Val339Alafs*32) c.1016_1026delTGTGGGAACGA Deletion 0% 7.7 103 0.383 N CO, AK, PN
38 34 p.(Tyr216Cys) c.647A>G Missense 0% NK 119 0.029 NK NK
39 34 NK c.639+4A>T Splicing 3% 29.5 137 0.297 N CO, AK, LVH, AR, MI, PN
40 35 p.(Ser102Glnfs*19) c.304delC Deletion 3% 16.9 102 NK Y CO, AK, PN
41 35 p.(Gly144Val) c.431G>T Missense 0% NK 105 0.009 NK NK
42 36 p.(Val281_Thr282delinsAla) c.842_844delTAA Deletion <24% 10.8 102 1.267 N CO, AK, PN
43 37 p.(Ser148Arg) c.444T>G Missense 6% 13.7 101 0.359 N CO, AK, PN
44 38 NK NK NK <24% 35.5 135 1.615 N CO, AK, PN
45 38 p.(Ser148Arg) c.444T>G Missense 6% 12 101 NA N CO, AK, MI
46 40 p.(Asp153del) c.457_459delGAC Deletion 0% NK 76 3.380 Y LVH
47 40 p.(Arg112Cys) c.334C>T Missense NK 4.8 79 0.230 N CO, AK, LVH
48 40 p.(Arg301Ter) c.901C>T Nonsense 0% 19.2 133 0.462 N CO, AK, GI
49 45 p.(Pro259Arg) c.776C>G Missense 3% NK 104 0.027 NK NK
50 45 p.(Ala156Thr) c.466G>A Missense NK NK 74 0.016 NK NK
51 45 p.(Leu243Phe) c.729G>C Missense 0% NK 104 0.008 NK NK
52 46 NK NK NK <24% 25.3 154 0.209 N CO, AK, LVH, PN, GI
53 52 p.(Asp33Gly) c.98A>G Missense 0% NK 83 0.016 NK NK
54 53 p.(Trp44Cys) c.132G>T Missense NK NK 75 0.090 Y CO, AK, LVH, GI
55 60 p.(Asp322Glu) c.966C>G Missense 1% NK NK NK NK NK

Plasma GL3 measred in μg/mL; GFR measured in ml/min per 1.73 m2; UPER, measured in mg/g if urine protein-creatinine ratio or g/d if 24 h collection. LNL, lower normal limit; RAAS, renin-angiotensin aldosterone system; NK, not known; N, no; CO, corneal opacity; PN, peripheral neuropathy; GI, gastrointestinal; AK, angiokeratoma; Y, yes; AR, arrhythmia; LVH, left ventricular hypertrophy; MI, myocardial infarction.

a

Fabry disease diagnosis confirmed by clinical history of periodic lower-extremity pain crises with and without fevers, angiokeratomas, cornea verticillata, mild proteinuria at age 14 yr, kidney biopsy findings consistent with Fabry nephropathy in the absence of lysosomotrophic medications, and a maternal uncle with acroparesthesias and cardiac disease who died prematurely at age 40 yr.