Table 2 Basic Demographics of TSC patients in Hong Kong
Study period | 1-1-1995 to 24-9-2018 |
|---|---|
Total populationa | 7,336,585 |
Total number of TSC cases identified | 321 |
Ethnicity, n (%) | |
Chinese | 299 (93.1%) |
Non-Chinese | 22 (6.9%) |
Total number of surviving TSC patients b | 284 |
Prevalence (in 100,000)b | 3.87 |
Male: female ratiob | 1:0.81 |
Paediatrics (< 18 years): adult (≥ 18 years)b | 1:2.84 |
Neurological, renal & lung manifestations, n (%) | |
Epilepsy | 229 (71.3%) |
Mental retardation | 101 (31.5%) |
Developmental delay | 46 (14.3%) |
Brain neoplasm (including SEGA) | 30 (9.3%) |
CKD (overall) | 16 (5.0%) |
CKD (requiring dialysis) | 4 (1.2%) |
Renal neoplasm requiring nephrectomy | 10 (3.1%) |
Pulmonary LAM | 5 (1.6%) |
Genetic testing, n (%)c | |
No mutation identified | 3 (9.1%) |
TSC1 mutation | 8 (24.2%) |
TSC2 mutation | 22 (66.7%) |
Both TSC1 and TSC2 mutations | 0 |