Shokeir M H
Clin Genet. 1978 Aug;14(2):61-72. doi: 10.1111/j.1399-0004.1978.tb02107.x.
The manifestations of "adult" polycystic disease of the kidneys are reported in fetal life and during infancy. At the time of diagnosis, the patients in whom the disorder was detected were a stillborn fetus, a liveborn baby immediately after birth, a neonate at 3 weeks of age, and three infants between 2 1/2 and 4 months of life. In all six cases, who were unrelated, similar implication of other family members was elicited, and in four, parental disease was documented. As expected, the disorder in these families was transmitted in an autosomal dominant fashion. Apart from the youngsters reported here, all the other known patients in the respective families were of adult age. The disease was fatal in all of our patients, with death ensuing (except, of course, in the stillbirth) from hours to weeks after the diagnosis. This report underlines the variability in the age of expression and the mode of presentation of "adult" polycystic kidney disease.
“成人型”多囊肾疾病的表现报告于胎儿期及婴儿期。在诊断时，被检测出患有该疾病的患者包括一名死产胎儿、一名出生后即刻存活的婴儿、一名3周龄的新生儿以及三名2个半月至4个月大的婴儿。在这六例互不相关的病例中，均引出了其他家庭成员有类似情况，且有四例记录了父母患有该疾病。不出所料，这些家族中的疾病是以常染色体显性方式遗传的。除了此处报告的这些儿童外，各家族中所有其他已知患者均为成年人。我们所有的患者病情均为致命性的，诊断后数小时至数周内死亡（当然，死产情况除外）。本报告强调了“成人型”多囊肾疾病在发病年龄和表现方式上的变异性。
