Table 2.
Characteristics of the cohort according to the PEPT2 genotype
| Characteristics | PEPT2*1/*1 (n=26) | PEPT2*1/*2 (n=62) | PEPT2*2/*2 (n=32) | P Value |
|---|---|---|---|---|
| Age, yr | 65±2.6 | 61±1.7 | 62.7±2.5 | 0.50 |
| Symptomatic carriers, n (%)a | 19 (73) | 33 (53) | 16 (50) | 0.14 |
| Body mass index, kg/cm2 | 23.7±1 | 25.2±0.6 | 25.6±0.9 | 0.33 |
| Women, n (%) | 23 (88) | 48 (80) | 23 (71) | 0.28 |
| Hypertension, n (%) | 15 (62) | 31 (53) | 18 (58) | 0.73 |
| Diabetes, n (%) | 2 (4) | 2 (3.5) | 1 (3.2) | 0.98 |
| Urine ALA-to-creatinine ratio, μmol/mmol creatinineb | 4.7±0.9 | 5.4±0.6 | 4.8±0.9 | 0.77 |
| Urine PBG-to-creatinine ratio, µmol/mmol creatininec | 5.6±1.5 | 6.4±0.9 | 4.7±1.3 | 0.57 |
Values are means±SD unless otherwise indicated. The three groups were compared using one-way ANOVA.
a
Symptomatic carrier is an association of at least one AIP attack with a typical porphyrin and heme precursor excretion profile in both urines and feces, confirmed by a 50% decrease in HMBS activity in erythrocytes and the identification of a causative mutation in HMBS gene.
b
ALA-to-creatinine normal value <3 µmol/mmol creatinine.
c
PBG-to-creatinine normal value <1 µmol/mmol creatinine.