Winding Louise, Loane Maria, Wellesley Diana, Addor Marie-Claude, Arriola Larraitz, Bakker Marian K, Bianchi Fabrizio, Calzolari Elisa, Gatt Miriam, Haeusler Martin, Lelong Nathalie, Mullaney Carmel, Scarano Gioacchino, Tucker David, Wiesel Awi, Garne Ester
Paediatric Department, Hospital Lillebaelt, Kolding, Denmark.
Prenat Diagn. 2014 Nov;34(11):1093-8. doi: 10.1002/pd.4433. Epub 2014 Jul 2.
The aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD).
The study is based on routinely collected data from a European database of major congenital anomalies including 13 registries with cases born in 1997-2006 and covering 1 458 552 births.
There were 601 MCKD cases giving an overall prevalence of 4.12 per 10 000 births with regional variation. In live births, 87% of cases had an isolated renal anomaly and 13% had associated major nonrenal anomalies (chromosomal, syndrome or other major anomalies). For the cases with isolated renal anomalies, 51/386 (11%) and 7/386 (2%) choose to terminate the pregnancy or resulted in an intrauterine fetal death, respectively. The prenatal detection rate was 88% in both unilateral and bilateral cases. Birth outcome differed with 92% of unilateral MCKD cases being liveborn compared with 33% of bilateral MCKD cases. For unilateral MCKD cases, 84% had an isolated renal anomaly compared with 51% of bilateral MCKD cases (p < 0.001).
Cases with unilateral MCKD are mainly liveborn, and only 16% have associated major malformations or a syndrome. Cases with bilateral MCKD are often associated with nonrenal major congenital anomalies or part of a syndrome, and only one third of bilateral MCKD cases in this study were liveborn. Prenatal detection rate of MCKD was high for both unilateral and bilateral cases. © 2014 John Wiley & Sons, Ltd.
本研究旨在描述多囊性肾发育不良（MCKD）的产前诊断及流行病学情况。
本研究基于从一个欧洲主要先天性异常数据库中常规收集的数据，该数据库包括13个登记处，涵盖1997年至2006年出生的病例，共计1458552例出生记录。
共有601例MCKD病例，总体患病率为每10000例出生中有4.12例，存在地区差异。在活产儿中，87%的病例有孤立性肾异常，13%的病例伴有主要非肾性异常（染色体异常、综合征或其他主要异常）。对于有孤立性肾异常的病例，分别有51/386（11%）和7/386（2%）选择终止妊娠或导致宫内胎儿死亡。单侧和双侧病例的产前检出率均为88%。出生结局有所不同，单侧MCKD病例92%为活产，而双侧MCKD病例为33%。对于单侧MCKD病例，84%有孤立性肾异常，而双侧MCKD病例为51%（p<0.001）。
单侧MCKD病例主要为活产，仅有16%伴有主要畸形或综合征。双侧MCKD病例常伴有非肾性主要先天性异常或为综合征的一部分，本研究中双侧MCKD病例仅有三分之一为活产。MCKD的单侧和双侧病例产前检出率均较高。©2014约翰威立父子有限公司。
