Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study
Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study
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DOI：
10.1002/uog.1098
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发表时间：
2004-07-01
影响因子：
7.1
通讯作者：
Avni, EF
中科院分区：
文献类型：
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作者：
Brun, M;Maugey-Laulom, B;Avni, EF
目的探讨常染色体显性遗传性多囊肾病（autosomaldominantpolycystickiddisease，ADPKD）产前超声诊断的特异性，以及对辅助分析的指导、对父母的正确咨询和对妊娠管理的指导意义。对产前超声检查显示肾脏异常和最终诊断为ADPKD的胎儿记录进行分析。超声分析包括：羊水量、膀胱大小、肾脏长度、有无肾囊肿和肾盂大小，并关注实质回声和皮髓质分化状态。结果27例患者中，25例有高回声肾皮质，20例有低回声髓质，导致皮髓质分化（CMD）增加。在6例病例中，髓质高回声导致CMD缺失或减少。1例患者皮质回声正常，伴有CMD。肾囊肿存在于产前期间的4例患者（在22周的情况下，在30周后的3例）。在12例患者中，囊肿在出生后出现（10例在出生后的前6个月内，2例在1岁时）。血压升高，观察只有2例和中度慢性肾功能衰竭在case.Conclusion我们已经描述了胎儿ADPKD的超声表现：中度扩大高回声肾CMD增加。虽然不是ADPKD的特异性，但这些发现应促进家族筛查。其他产前超声特征（CMD缺失或减少和皮质囊肿）较少见。版权所有（C）2004 ISUOG.出版社：John Wiley Sons，Ltd
Objective To determine whether a specific prenatal sonographic pattern can be identified for autosomal dominant polycystic kidney disease (ADPKD) and if so whether it would be helpful in orienting complementary analysis, properly counseling parents and adapting pregnancy management.Methods A retrospective multicenter study was conducted in four prenatal diagnostic centers. The records of fetuses with a prenatal ultrasound examination revealing abnormal kidneys and with a final diagnosis of ADPKD were analyzed. Ultrasound analysis included: amount of amniotic fluid, bladder size, renal length, presence or absence of renal cysts and size of renal pelves, and was focused on parenchyma echogenicity and status of corticomedullary differentiation. Postnatal follow-up was reviewed.Results Of the 27 patients included in the study, 25 had hyperechogenic renal cortex and 20 had hypoechogenic medulla resulting in increased corticomedullary differentiation (CMD). In six cases, the medulla was hyperechogenic leading to absent or decreased CMD. One patient bad normal cortical echogenicity and CMD. Renal cysts were present during the prenatal period in four patients (at 22 weeks in one case and after 30 weeks in three cases). In 12 patients, the cysts appeared after birth (within the first 6 months of postnatal life in 10 cases and by the age of 1 year in two cases). Elevated blood pressure was observed in only two cases and moderate chronic renal failure in one case.Conclusion We have described the sonographic presentation in fetuses with ADPKD: moderately enlarged hyperechogenic kidneys with increased CMD. Although not specific to ADPKD, these findings should prompt familial screening. Other prenatal sonographic features (absent or decreased CMD and cortical cysts) are less frequent. Copyright (C) 2004 ISUOG. Published by John Wiley Sons, Ltd.