Landau D, Shalev H, Shulman H, Barki Y, Maor E, Zmora E
Pediatric Nephrology, Department of Pediatrics, Soroka Medical Center and Ben Gurion University of the Negev, Beer Sheva, Israel.
Pediatr Nephrol. 2000 Apr;14(4):319-21. doi: 10.1007/s004670050767.
Two newborns with glomerulocystic kidney disease manifesting as late onset oligohydramnion and neonatal anuria, yet without severe respiratory distress, are presented. They had a similar perinatal course and associated clinical manifestations. No associated congenital or inherited malformation syndrome could be defined. Both infants' parents were first degree cousins and belonged to the same small Bedouin tribe, and neither they nor the infants' siblings had polycystic kidneys or renal insufficiency, pointing to either a possible genetic etiology or a common external toxic exposure.
本文报告了两名患有肾小球囊性肾病的新生儿,表现为晚期羊水过少和新生儿无尿,但无严重呼吸窘迫。他们有相似的围产期过程和相关临床表现。未发现相关的先天性或遗传性畸形综合征。两名婴儿的父母均为一级亲属,属于同一个贝都因小部落,他们及婴儿的兄弟姐妹均无多囊肾或肾功能不全,提示可能存在遗传病因或共同的外部毒物暴露。