RENAL TUBULAR DYSGENESIS - A NOT UNCOMMON AUTOSOMAL RECESSIVE SYNDROME - A REVIEW
RENAL TUBULAR DYSGENESIS - A NOT UNCOMMON AUTOSOMAL RECESSIVE SYNDROME - A REVIEW
复制标题
DOI：
10.1002/ajmg.1320430512
复制
发表时间：
1992-07-15
期刊：
影响因子：
--
通讯作者：
JIMENEZ, C
中科院分区：
文献类型：
--
作者：
ALLANSON, JE;HUNTER, AGW;JIMENEZ, C
肾小管发育不全是一种最近认识的常染色体隐性遗传疾病，其特征是近曲小管短且发育不良，导致羊水过少、Potter序列和新生儿呼吸衰竭。我们报告了来自一家儿科中心的另外 9 例病例，表明这种综合征并不像之前认为的那么罕见。已记录了受影响妊娠在妊娠第 22 周之前的正常羊水量，这影响了早期产前诊断。妊娠中期超声显示羊水过少，肾脏结构正常，应提示这一诊断并需要进行详细的尸检病理检查。
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.