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Table 2 Clinical data and parameters

From: Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant

  p.A143T patients Missense mutation patients
  Total (n = 25) Female (n = 15) Male (n = 10) Total (n = 58) Female (n = 39) Male (n = 19)
age, years 46.3 ± 13.7 48.7 ± 14.3 42.7 ± 12.6 44.1 ± 16.6 47.7 ± 17.3 36.8 ± 12.6
body weight, kg 76.6 ± 20.4 65.8 ± 10.7 92.7 ± 21.4 75.8 ± 19.6 71.6 ± 19.1 83.8 ± 18.3
body height, cm 172.0 ± 10.9 166.1 ± 5.1 181.0 ± 11.3 171.9 ± 9.4 167.0 ± 5.9 181.6 ± 7.2
BMI, kg/m2 25.6 ± 4.8 24.0 ± 4.3 28.0 ± 4.5 25.5 ± 5.8 25.6 ± 6.3 25.3 ± 4.8
GLA activity (normal range 100–250 %) , % of reference 65 [25–181] 100 [54–181] 48 [25–72] 80 [0–272] 166 [34–272]* 13 [0–69]**
lyso-Gb3 within reference range (<0.9 ng/ml), n 19 (82.6) 12 (85.7) 7 (77.8) 9 (22.5) 8 (30.8)** 1 (7.1)***
lyso-Gb3, ng/ml 0.7 ± 0.3 0.6 ± 0.3 0.8 ± 0.3 13.0 ± 16.0 4.5 ± 4.8** 30.2 ± 16.9****
ERT, na 10 (40.0) 4 (26.7) 6 (60.0) 25 (43.1) 12 (30.8) 13 (68.4)
Fabry crisis, n 2 (8.0) 2 (13.3) 0 (0.0) 8 (15.1) 5 (14.7) 3 (15.8)
stroke/TIA, n 7 (28.0) 3 (20.0) 4 (40.0) 5 (8.6) 2 (5.1) 3 (15.8)
IVSd, mm 9.0 ± 1.8 8.3 ± 1.8 9.8 ± 1.4 11.6 ± 5.0 10.6 ± 3.2** 14.0 ± 7.3*
LVH (IVSd > 12 mm), n 3 (12.0) 1 (6.7) 2 (20.0) 19 (40.4) 11 (33.3) 8 (57.1)
pacemaker, n 0 (0.0) 0 (0.0) 0 (0.0) 1 (1.7) 1 (2.6) 0 (0.0)
NYHA class, n
 0 8 (33.3) 3 (21.4) 5 (50.0) 9 (15.5) 7 (18.0) 2 (10.5)*
 I 15 (62.5) 10 (71.4) 5 (50.0) 36 (62.1) 23 (59.0) 13 (68.4)
 II 1 (4.2) 1 (7.1) 0 (0.0) 10 (17.2) 8 (20.5) 2 (10.5)
 III 0 (0.0) 0 (0.0) 0 (0.0) 3 (5.2) 1 (2.6) 2 (10.5)
 IV 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0)
ACR, mg albumin/ g creatinine 7 [0–14323] 12 [0–14323] 1 [0–12] 82 [0–4080] 59 [0–4080]*** 195 [0–2668]****
albuminuria (>30 mg/g), n 4 (16.7) 4 (28.6) 0 (0.0) 37 (82.2) 22 (75.9)** 15 (93.8)****
creatinine, mg/dl 0.86 ± 0.31 0.80 ± 0.35 0.96 ± 0.20 0.86 ± 0.38 0.73 ± 0.18 1.12 ± 0.53
eGFR, ml/min/1.73 m2 95.6 ± 17.6 95.0 ± 16.5 96.4 ± 20.1 97.3 ± 27.5 98.3 ± 21.4 95.2 ± 37.6
dialysis, n 0 (0.0) 0 (0.0) 0 (0.0) 1 (1.7) 0 (0.0) 1 (5.3)
NTX, n 0 (0.0) 0 (0.0) 0 (0.0) 1 (1.7) 0 (0.0) 1 (5.3)
CKD stage, n
G1 (≥90 ml/min/1.73 m2) 18 (72.0) 11 (73.3) 7 (70.0) 37 (67.3) 26 (70.3) 11 (61.1)
G2 (60–89 ml/min/1.73 m2) 6 (24.0) 4 (26.7) 2 (20.0) 12 (21.8) 9 (24.3) 3 (16.7)
G3 (30–59 ml/min/1.73 m2) 1 (4.0) 0 (0.0) 1 (10.0) 6 (10.9) 2 (5.4) 4 (22.2)
G4 (15–29 ml/min/1.73 m2) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0)
G5 (<15 ml/min/1.73 m2) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0)
RAAS blockers, n 8 (32.0) 5 (33.3) 3 (30.0) 18 (54.6) 10 (43.5) 8 (80.0)*
diuretics, n 2 (8.0) 0 (0.0) 2 (20.0) 5 (16.1) 5 (23.8) 0 (0.0)
analgesics, n 2 (8.0) 1 (6.7) 1 (10.0) 6 (21.4) 6 (30.0) 0 (0.0)
antidepressants, n 3 (12.0) 2 (13.3) 1 (10.0) 4 (14.8) 4 (21.1) 0 (0.0)
MSSI score (max. 76) 8.5 ± 7.8 8.1 ± 6.7 9.0 ± 9.7 8.9 ± 6.7 8.1 ± 7.5 10.4 ± 4.7
MSSI general (max. 18) 2.4 ± 1.9 2.8 ± 2.3 1.8 ± 1.2 1.8 ± 1.6 1.4 ± 1.6* 2.4 ± 1.3
MSSI cardiac (max. 20) 0.9 ± 2.5 0.6 ± 2.4 1.2 ± 2.6 2.7 ± 4.2 2.9 ± 4.1* 2.3 ± 4.4
MSSI renal (max. 18) 2.1 ± 3.6 2.3 ± 3.8 1.8 ± 3.5 2.4 ± 2.8 1.8 ± 2.8 3.6 ± 2.6*
MSSI neurologic (max. 20) 3.1 ± 4.1 2.4 ± 3.7 4.1 ± 4.6 2.1 ± 2.2 2.1 ± 2.3 2.2 ± 2.2
total DS3 score (max. 80) 6.8 ± 6.5 6.3 ± 6.3 7.6 ± 7.1 9.0 ± 6.2 7.4 ± 6.0 12.1 ± 5.6
total DS3 cardiac (max. 24) 0.6 ± 1.8 0.4 ± 1.3 1.0 ± 2.3 2.8 ± 3.3 2.6 ± 3.2* 3.3 ± 3.5
total DS3 renal (max. 24) 1.3 ± 2.1 1.6 ± 2.3 1.0 ± 1.7 2.4 ± 3.4 1.9 ± 3.0 3.6 ± 3.9*
total DS3 neurologic (max. 16) 4.4 ± 4.7 3.9 ± 4.4 5.2 ± 5.3 3.4 ± 3.5 2.8 ± 3.3 4.8 ± 3.7
  1. Missense mutations were restricted to amino acid substitutions due to single nucleotide mutations within the coding region absent of the catalytic active protein sites. Values are given as mean ± SD, median [range] for continuous data or n (%) for categorical data. Continuous values were compared using unpaired Student’s t test or Mann Whitney U test if unequal distribution was observed (both two-sided). Categorical values have been tested with Fisher’s exact test (two-sided). Reference values for plasma lyso-Gb3 < 0.9 ng/ml and GLA activity >32 nmol/h/mg protein in leukocytes. To compare GLA activities between laboratories, values are presented as the percentage of the laboratory reference value. ACR: albumin-to-creatinine ratio; BMI: body mass index; CKD: chronic kidney disease; DS3: total Disease Severity Scoring System; eGFR: estimated glomerular filtration rate (calculated via CKD-EPI formula); ERT: enzyme replacement therapy; IVSd: interventricular septum thickness in diastole; LVH: left ventricular hypertrophy; MSSI: Mainz Severity Score Index; NTX: renal transplantation; NYHA: New York Heart Association; RAAS: renin-angiotensin-aldosterone-system. TIA: transient ischemic attack. aERT initialization within 12 months after 1.st visit. *p < 0.05, **p < 0.01, ***p < 0.001, ****p < 0.0001