Clinical characteristics of children and adults with PKD
| Characteristics . | Children (<18 y) . | Adults (≥18 y) . | ||
|---|---|---|---|---|
| n* . | % or median (range) . | n* . | % or median (range) . | |
| Age at diagnosis, y | 96 | 0.7 (0-16.3) | 92 | 3.4 (0-60.3) |
| No. of lifetime transfusions | 86 | 18 (1-312) | 63 | 39 (1-516) |
| Genotype | ||||
| Missense/missense | 55/97 | 57 | 55/94 | 58 |
| Missense/nonmissense | 26/97 | 27 | 25/94 | 27 |
| Nonmissense/nonmissense | 16/97 | 16 | 14/94 | 15 |
| Hemoglobin, g/dL | ||||
| Nonsplenectomized | ||||
| RT† | 27 | 7.4 (4.3-10.7) | n/a | n/a |
| NRT† | 40 | 9.1 (6.0-12.5) | 30 | 11.3 (7.6-14.2) |
| Splenectomized | ||||
| NRT† | 24 | 8.5 (4.3-12.8) | 52 | 8.5 (6.1-12.3) |
| Absolute reticulocyte count, ×106 cells/μL | 40 | 0.30 (0.07-5.36) | 42 | 0.21 (0.09-6.52) |
| Reticulocytes, % | 87 | 11.2 (0.4-82.9) | 54 | 18.9 (2.5-76) |
| Bilirubin, mg/dL | 80 | 3.6 (0.1-33.1) | 78 | 4.1 (0.9-17.6) |
| Lactate dehydrogenase, U/L | 46 | 775 (183-3811) | 66 | 220 (127-1007) |
| Ferritin, ng/mL | 63 | 917 (22-13409) | 72 | 594 (32-8220) |
| Characteristics . | Children (<18 y) . | Adults (≥18 y) . | ||
|---|---|---|---|---|
| n* . | % or median (range) . | n* . | % or median (range) . | |
| Age at diagnosis, y | 96 | 0.7 (0-16.3) | 92 | 3.4 (0-60.3) |
| No. of lifetime transfusions | 86 | 18 (1-312) | 63 | 39 (1-516) |
| Genotype | ||||
| Missense/missense | 55/97 | 57 | 55/94 | 58 |
| Missense/nonmissense | 26/97 | 27 | 25/94 | 27 |
| Nonmissense/nonmissense | 16/97 | 16 | 14/94 | 15 |
| Hemoglobin, g/dL | ||||
| Nonsplenectomized | ||||
| RT† | 27 | 7.4 (4.3-10.7) | n/a | n/a |
| NRT† | 40 | 9.1 (6.0-12.5) | 30 | 11.3 (7.6-14.2) |
| Splenectomized | ||||
| NRT† | 24 | 8.5 (4.3-12.8) | 52 | 8.5 (6.1-12.3) |
| Absolute reticulocyte count, ×106 cells/μL | 40 | 0.30 (0.07-5.36) | 42 | 0.21 (0.09-6.52) |
| Reticulocytes, % | 87 | 11.2 (0.4-82.9) | 54 | 18.9 (2.5-76) |
| Bilirubin, mg/dL | 80 | 3.6 (0.1-33.1) | 78 | 4.1 (0.9-17.6) |
| Lactate dehydrogenase, U/L | 46 | 775 (183-3811) | 66 | 220 (127-1007) |
| Ferritin, ng/mL | 63 | 917 (22-13409) | 72 | 594 (32-8220) |
n/a, not applicable.
Sample sizes are those with known data for the given characteristic from the Pyruvate Kinase Deficiency Natural History Study. Those from the Amish community (homozygous R479H mutation) were excluded.29
†RT, regularly transfused with ≥6 transfusions per year; NRT, not regularly transfused with <6 transfusions per year.