Expression of “adult” polycystic renal disease in the fetus and newborn

作者：M. H. K. Shokeir · 发表于：Clinical Genetics · 年份：1978 · DOI：10.1111/j.1399-0004.1978.tb02107.x · 被引用次数：54 · 研究领域：Genetic and Kidney Cyst Diseases、Pediatric Urology and Nephrology Studies、Renal and related cancers

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.