Fletcher Jeffery, Hu Min, Berman Yemima, Collins Felicity, Grigg John, McIver Margot, Jüppner Harald, Alexander Stephen I
Centre for Kidney Research, Department of Nephrology, The Children's Hospital at Westmead, Westmead, Australia.
J Am Soc Nephrol. 2005 Sep;16(9):2754-61. doi: 10.1681/ASN.2005030239. Epub 2005 Jul 27.
The renal coloboma syndrome (OMIM 120330) is caused by mutations in the PAX2 gene. Typical findings in these patients include renal hypoplasia, renal insufficiency, vesicoureteric reflux, and optic disc coloboma. A family with a novel heterozygous 10-bp deletion in exon 2 of the PAX2 gene leading to a truncating mutation and variable phenotype across three generations is reported. The first presentation of multicystic dysplastic kidney in this syndrome is reported. The possibility that abnormal PAX2 protein in this case may cause a dominant negative effect also is discussed. The finding of multicystic dysplastic kidney in renal coloboma syndrome could suggest that PAX2 may play a role in early ureteric obstruction and subsequent renal maldevelopment.
肾裂综合征（OMIM 120330）由PAX2基因突变引起。这些患者的典型表现包括肾发育不全、肾功能不全、膀胱输尿管反流和视盘裂。本文报道了一个家系，该家系PAX2基因外显子2存在一个新的杂合10碱基缺失，导致截短突变，并在三代人中表现出可变的表型。本文首次报道了该综合征中多囊性发育不良肾的表现。本文还讨论了该病例中异常PAX2蛋白可能产生显性负效应的可能性。肾裂综合征中多囊性发育不良肾的发现提示PAX2可能在早期输尿管梗阻及随后的肾脏发育异常中起作用。
