Hematologic Data From PKD Patients Homozygous for the Mutation G1529A
| Patient No. . | Sex . | Hemoglobin (g/dL) . | Residual PK Activity (%) . | RBCs (×1012/L) . | MCV (fL) . | Reticulocytes (%) . | RBC t1/2 (d)3-150 . | Clinical Manifestation3-151 . |
|---|---|---|---|---|---|---|---|---|
| 293-152 | F | 5.8 | 10 | 1.82 | 128 | 66 | 2.4 | Severe |
| 2a | M | 10.0 | 10 | 2.34 | 122 | 25 | 4.0 | Severe |
| 2b3-152 | M | 9.0 | 13 | 2.52 | 121 | 29 | 4.0 | Severe |
| 12 | M | 8.3 | ND | ND | ND | 25 | 3.7 | Severe |
| 19 | M | 7.2 | 14 | 2.32 | 107 | 18 | ND | Less severe |
| 27 | M | 7.6 | 17 | 2.70 | 106 | 13 | 7.0 | Less severe |
| 28 | M | 12.1 | 17 | 3.59 | 107 | 8 | 11.3 | Moderate |
| 17a | M | 12.2 | 18 | 3.74 | 95 | 8 | 13.2 | Moderate |
| 17b | F | 9.2 | 22 | 2.56 | 94 | 6 | 14.1 | Moderate |
| 17c | F | 8.1 | 13 | 2.92 | 94 | 8 | ND | Moderate |
| 15 | M | 10.9 | 20 | 3.74 | 91 | 5 | 15.3 | Moderate |
| 24 | F | 9.0 | 25 | 3.24 | 92 | ND | 13.7 | Moderate |
| Normal | M 16.7 | 100 | 4.0-6.5 | 80-95 | <1 | 25-30 | ||
| F 13.89 |
| Patient No. . | Sex . | Hemoglobin (g/dL) . | Residual PK Activity (%) . | RBCs (×1012/L) . | MCV (fL) . | Reticulocytes (%) . | RBC t1/2 (d)3-150 . | Clinical Manifestation3-151 . |
|---|---|---|---|---|---|---|---|---|
| 293-152 | F | 5.8 | 10 | 1.82 | 128 | 66 | 2.4 | Severe |
| 2a | M | 10.0 | 10 | 2.34 | 122 | 25 | 4.0 | Severe |
| 2b3-152 | M | 9.0 | 13 | 2.52 | 121 | 29 | 4.0 | Severe |
| 12 | M | 8.3 | ND | ND | ND | 25 | 3.7 | Severe |
| 19 | M | 7.2 | 14 | 2.32 | 107 | 18 | ND | Less severe |
| 27 | M | 7.6 | 17 | 2.70 | 106 | 13 | 7.0 | Less severe |
| 28 | M | 12.1 | 17 | 3.59 | 107 | 8 | 11.3 | Moderate |
| 17a | M | 12.2 | 18 | 3.74 | 95 | 8 | 13.2 | Moderate |
| 17b | F | 9.2 | 22 | 2.56 | 94 | 6 | 14.1 | Moderate |
| 17c | F | 8.1 | 13 | 2.92 | 94 | 8 | ND | Moderate |
| 15 | M | 10.9 | 20 | 3.74 | 91 | 5 | 15.3 | Moderate |
| 24 | F | 9.0 | 25 | 3.24 | 92 | ND | 13.7 | Moderate |
| Normal | M 16.7 | 100 | 4.0-6.5 | 80-95 | <1 | 25-30 | ||
| F 13.89 |
Determined by 51Cr labeling.35
Severity of the clinical manifestation of the disease has been classified using the following criteria: number, t1/2, and MCV of RBCs, degree of reticulocytosis, susceptibility to infections, physical capacity (generally good in category “moderate”), development of a secondary hemochromatosis, and life expectancy of not more than ∼40 years for category “severe.”
Died recently at the age of 41 years (no. 29) and 35 years (no. 2b).