Table 1.
Patient | Sex | Age Pa(years) | Age Stb(years) | Hgc | Hctd | Epoe | Ethnic Origin | VHL Mutations | Remarks |
1 | M | 1 | 14 | 20.8 | 64 | N-Hf | Danish | R200W/R200W | Sibling of patient 2 |
2 | M | 5 | 12 | 19.5 | 56 | N-Hf | Danish | R200W/R200W | Sibling of patient 1 |
3 | M | 3 | 19 | 16.4 | 53.2 | N | White American | R200W/R200W | Thrombosis |
4 | M | 9 | 10 | 23.5 | 70.2 | H | White American | R200W/P192A | … |
5 | F | 5 | 13 | 16.3 | 51.6 | N | White American | R200W/L188V | … |
6 | M | 5 | 15 | 21 | 58.7 | H | White American | R200W/L188V | Lost of follow-up |
7 | M | 1 | 17 | 18 | 61 | H | Croatian | H191D/H191D | … |
Age P = age at presentation.
Age St = age at which we studied the patient.
Hg = hemoglobin.
Hct = hematocrit.
H = high; N = normal (since several independent laboratories at local institutions performed serum Epo measurement and had different normal ranges).
Patient 1 and patient 2 had their serum Epo measured several times; the serum Epo was high once and at normal-to-high–normal range on other occasions.