Flynn M T, Ekstrom L, De Arce M, Costigan C, Hoey H M
Department of Paediatrics, National Childrens Hospital, Trinity College, Dublin, Ireland.
Pediatr Nephrol. 1996 Aug;10(4):498-500. doi: 10.1007/s004670050148.
The presence of renal malformation was evaluated in 43 patients with Turner syndrome (TS) and compared with the karyotype in each case; 28 patients (65%) had a mosaic karyotype and the other 15 (35%) had only 45,X metaphases. Renal malformations characteristic of TS were found in 24% of the complete sample group. Of the 15 cases of pure 45,X karyotype, 8 (53%) had abnormal renal findings, while these were found in only 2 of the 28 mosaic cases (7.1%). The probability of this distribution having occurred by chance is P < 0.05. More than 50% of girls with TS are said to have a renal anomaly. In this study renal malformations were found in 25% of the sample group. A significantly greater association of renal malformation was found with monosomy 45,X than with mosaicism. As mosaicism occurs in up to 60% of all girls with TS, the lower figure reported here represents a truer prevalence than that quoted in older series, where the figures quoted applied only to the 45,X syndrome.
对43例特纳综合征（TS）患者的肾脏畸形情况进行了评估，并与每例患者的核型进行了比较；28例患者（65%）为嵌合核型，另外15例（35%）仅具有45,X中期相。在整个样本组中，24%的患者发现了特纳综合征特有的肾脏畸形。在15例纯45,X核型病例中，8例（53%）有异常肾脏表现，而在28例嵌合病例中只有2例（7.1%）有异常肾脏表现。这种分布由偶然因素导致的概率为P < 0.05。据说超过50%的特纳综合征女孩有肾脏异常。在本研究中，样本组中25%的患者发现了肾脏畸形。发现肾脏畸形与45,X单体的关联显著大于与嵌合现象的关联。由于嵌合现象在所有特纳综合征女孩中发生率高达60%，这里报告的较低数字比旧系列中引用的数字更真实地反映了患病率，旧系列中引用的数字仅适用于45,X综合征。
