Matsubara Shigeki, Ueda Yoshihiko, Takahashi Hisako, Nagai Takashi, Kuwata Tomoyuki, Muto Shigeaki, Yamaguchi Takehiko, Takizawa Toshihiro, Suzuki Mitsuaki
Departments of Obstetrics and Gynecology, Jichi Medical University, Shimotsuke, Tochigi, Japan.
J Obstet Gynaecol Res. 2009 Dec;35(6):1109-14. doi: 10.1111/j.1447-0756.2009.01069.x.
Alport syndrome is a familial progressive nephritis. The most frequent type is X-linked Alport syndrome, caused by genetic abnormalities in the alpha 5 chain of type IV collagen. Skin biopsy is a useful tool for diagnosing this disease. It is not well known how this syndrome affects pregnancy and how it is affected by pregnancy, or whether the umbilical cord may provide material for detecting this collagen abnormality. We report a primigravida with Alport syndrome with mild proteinuria who gave birth abdominally to a term male infant without deteriorating renal function during pregnancy. The umbilical cord from not only this infant but also from an Alport (-) control infant showed negative immunofluorescence staining for the alpha 5 chain of type IV collagen. Women with Alport syndrome without renal dysfunction may follow an uneventful obstetrical course until term. The cord may not be suitable for diagnosing Alport syndrome with immunofluorescence staining.
奥尔波特综合征是一种家族性进行性肾炎。最常见的类型是X连锁奥尔波特综合征，由IV型胶原α5链的基因异常引起。皮肤活检是诊断该疾病的一种有用工具。目前尚不清楚该综合征如何影响妊娠以及它如何受到妊娠的影响，或者脐带是否可提供用于检测这种胶原异常的物质。我们报告了一名患有轻度蛋白尿的奥尔波特综合征初产妇，她经腹分娩了一名足月儿男婴，孕期肾功能未恶化。不仅该婴儿的脐带，而且一名奥尔波特综合征阴性对照婴儿的脐带，IV型胶原α5链免疫荧光染色均为阴性。无肾功能障碍的奥尔波特综合征女性在足月前可能有顺利的产科过程。脐带可能不适合用免疫荧光染色诊断奥尔波特综合征。
