Table 1.
Clinical and biological features of the proposita and family members
| Age (years) | Sex | ESR (mm/h) | CRP (mg/mL) | ANA | RF | IgA (U/mL) | IgD (U/mL) | MVK mutation | MVK enzymatic activity in lymphocytes (µkat/kg prot) |
Urinary mevalonic acid (mmol/mol creatinine) | MVK enzymatic activity in skin fibroblasts (pmol/min/mg prot) | MVK enzymatic activity in skin fibroblasts (% of control) | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Controls | NA | NA | NA | NA | NA | NA | NA | NA | wt/wt | NA | NA | 548+123 | 100 |
| Symptomatic patient | 43 | F | 11 | 1 | 1/320 | absent | 5.82 | 690 | V377I/V377I | 0.3 | 3.1 ; 4.1 | 18 | 3 |
| Asymptomatic sister (subject 1) | 40 | F | 3 | 1 | 1/320 | absent | 2.58 | 140 | V377I/V377I | 0.3 | 1.7 | 38 | 6,5 |
| Mother (subject 2) | 69 | F | 10 | 4 | 1/320 | absent | 4.54 | <22 | wt/V377I | 0.5 | 160 | 29 | |
| Father (subject 3) | 66 | M | 30 | 33 | 1/320 | absent | 3.37 | <22 | wt/V377I | 1 | 175 | 32 |
ANA, antinuclear antibody; CRP, C reactive protein; ESR, erythrocyte sedimentation rate; MVK, mevalonate kinase; NA, not applicable; RF, rheumatoid factor; wt, wild-type allele.