Table.
Clinical Characteristics of Japanese Werner Syndrome Patients.
| Ref. 8 | Ref. 3 | Present case (2018) | ||
|---|---|---|---|---|
| Genetically confirmed (n=7) | Genetically confirmed (n=47) | Clinically diagnosed (n=146) | ||
| Age | 42.9% in 50s, 42.9% in 40s, 14.3% in 30s | 62.7% in 60s, 22.7% in 50s, 10.8% in 40s, 1.1% in 30s, and 0.5% in 20s | 38 | |
| Gender | Male 3, Female 4 | Male 82, Female 93, unknown 18 | Male | |
| Height (cm) | n.m. | Male 158.3±8.6, Female 148.5±8.6 | 162.0 | |
| Body weight (kg) | n.m. | Male 45.3±8.3, Female 37.7±8.3 | 50.0 | |
| Gene mutations | c.3139-1G>C/ c.3139-1G>C |
n.m. | n.m. | c.1720+1G>A/ c.3139-1G>C |
| Clinical symptoms | ||||
| Gray hair, loss of hair | 100% | 97.9% | 98.2% | + |
| Bird-like face | n.m. | 93.3% | 97.2% | + |
| Bilateral cataract | 100% | 86.0% | 75.5% | + |
| Abnormality of the voice | 85.70% | 82.2% | 91.3% | + |
| Skin atrophy | 100% | 93.2% | 99.0% | + |
| Skin ulcer | 71.40% | 86.3% | 88.5% | + |
| Clavus or callus | n.m. | 90.4% | 92.4% | + |
| Flat foot | n.m. | 94.6% | 84.3% | + |
| Family history | ||||
| Consanguinity | n.m. | 35.3% | 40.6% | - |
| Parenthood | n.m. | 34.4% | 34.4% | - |
| Complications | ||||
| Diabetes mellitus | n.m. | 55.8% | 70.5% | + |
| Hypertension | n.m. | 30.9% | 37.0% | + |
| Dyslipidemia | n.m. | 85.4% | 60.7% | + |
| LDL-C<140 | n.m. | 50.0% | 43.6% | - |
| HDL-C<40 | n.m. | 17.2% | 25.9% | + |
| TG<150 | n.m. | 59.3% | 55.9% | + |
| Fatty liver | n.m. | 50.0% | 42.1% | + |
| Cerebral hemorrhage | n.m. | 2.5% | 1.1% | - |
| Cerebral infarction | n.m. | 2.4% | 4.4% | - |
| Coronary heart disease | n.m. | 11.1% | 16.1% | - |
| Arteriosclerosis obliterans | n.m. | 21.6% | 25.8% | - |
| Malignant tumors | n.m. | 44.4% | 40.2% | - |
| Osteoporosis | n.m. | 60.7% | 66.4% | + |
| Markers for ectopic calcification (normal range) | ||||
| Serum calcium (mg/dL) (8.5-10.0) | 9.3±0.28 | n.m. | n.m. | 9.9 |
| Serum inorganic phosphate (mg/dL) (2.5-4.5) | 3.4±0.40 | n.m. | n.m. | 3.1 |
| Serum intact-parathyroid hormone (PTH)(pg/mL) (10.0-65.0) | 45±13.7 | n.m. | n.m. | 15 |
| Serum 1,25-(OH)2 Vitamin D (mg/mL) (20-60) | 53±10.8 | n.m. | n.m. | n.e. |
| Serum bone-specific alkaline phosphatase (BAP) (U/L) (7.9-29.0) | 28.3±27.8 | n.m. | n.m. | 9.4 |
| Ectopic calcification | ||||
| Elbow | 85.70% | n.m | n.m. | + |
| Knee | 85.70% | n.m. | n.m. | + |
| Ankle | 85.70% | 76.5% | 83.6% | + |
| Pain | ||||
| Elbow | 71.40% | n.m. | n.m. | + |
| Knee | 57.10% | n.m. | n.m. | + |
| Ankle | 71.40% | n.m. | n.m. | + |
LDL-C: low density lipoprotein cholesterol, HDL-C: high density lipoprotein cholesterol, TG: triglyceride, n.m.: not mentioned, n.e.: not evaluated