Incidence of Menkes disease
Incidence of Menkes disease
复制标题
门克斯病的发病率
作者：
T. Tønnesen;W. Kleijer;N. Horn
我们根据1976-87年期间出生的已知Menkes病患者计算了丹麦、法国、荷兰、英国和德国的Menkes病发病率。考虑到活产Menkes患者，这五个国家的合并发病率为1例Menkes患者/298000例活产婴儿。如果考虑到受影响的流产胎儿的数量，发病率为每254000活产婴儿1 Menkes。这一发病率比早期公布的发病率数字低2-4倍，使门克斯病成为一种极其罕见的疾病。根据1976年至1987年期间出生的孤立性门克斯病例数量和这段时间内新生男性的总数，门克斯病的突变率估计为1.96 × 10−6。
SummaryWe have calculated the incidence of Menkes disease for Denmark, France, The Netherlands, the United Kingdom and West Germany, based on known Menkes patients born during the time period 1976–87. Considering live-born Menkes patients, the combined incidence for these five countries is 1 Menkes patient per 298000 live-born babies. If the number of affected aborted fetuses are taken into account, the incidence is 1 Menkes per 254000 live-born babies. This incidence, which is 2–4 times lower than earlier published incidence figures, places Menkes disease as an extremely rare disease. The mutation rate for Menkes disease is estimated to be 1.96 × 10−6, based on the number of isolated Menkes cases born during the time period 1976–87 and the total number of newborn males during this time.