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隐性遗传性多囊肾


婴儿因羊水过少导致的肺发育不良在孕23周早产后死亡。羊水过少是由多囊肾引起胎儿排尿显著减少造成的。双侧肾脏增大,几乎占满了肝脏以下的腹腔。在本例,肉眼和组织学表现均符合隐性遗传性多囊肾。
This child died soon after premature birth at 23 weeks gestation from pulmonary hypoplasia as a result of oligohydramnios. The oligohydramnios resulted from markedly diminished fetal urine output as a consequence of polycystic kidney disease. Note the bilaterally enlarged kidneys that nearly fill the abdomen below the liver. The histologic appearance in this case, coupled with the gross appearance., was consistent with recessive polycystic kidney disease (RPKD).

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