Allanson J E, Hunter A G, Mettler G S, Jimenez C
Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Am J Med Genet. 1992 Jul 15;43(5):811-4. doi: 10.1002/ajmg.1320430512.
Renal tubular dysgenesis is a recently recognized autosomal recessive condition characterized by short and poorly developed proximal convoluted tubules, leading to oligohydramnios, Potter sequence, and neonatal respiratory failure. We report an additional 9 cases from one pediatric center, suggesting that this syndrome is not as rare as was previously thought. Normal amniotic fluid volumes in affected pregnancies prior to the 22nd week of gestation have been documented, compromising early prenatal diagnosis. Late second trimester sonographic demonstration of oligohydramnios, with structurally normal kidneys, should suggest this diagnosis and the need for detailed post-mortem pathological examination.
肾小管发育不全是一种最近才被认识的常染色体隐性疾病，其特征是近端曲管短小且发育不良，导致羊水过少、波特序列征和新生儿呼吸衰竭。我们报告了来自一家儿科中心的另外9例病例，提示该综合征并不像之前认为的那样罕见。已记录到受影响妊娠在妊娠22周前羊水体积正常，这不利于早期产前诊断。孕中期晚期超声显示羊水过少且肾脏结构正常，应提示该诊断以及需要进行详细的尸检病理检查。
