PDF(Pubmed)
Abstract：
Report on the diagnosis of prenatally detected fetal kidneys with bilateral polycystic appearance in a single center between 1999 and 2020 with special focus on renal morphology and biometry, amniotic fluid and extrarenal findings and proposal for an diagnostic algorithm.
Retrospective observational study including pregnancies with prenatally detected kidneys with bilateral polycystic appearance (n = 98). Cases and outcomes were compared according to prenatal findings with special focus on renal morphology, amount of amniotic fluid, and presence of extrarenal abnormalities.
Most frequent diagnoses were autosomal recessive polycystic kidney disease (ARPKD, 53.1%), Meckel-Gruber syndrome (MKS, 17.3%) and autosomal dominant polycystic kidney disease (ADPKD, 8.2%). Other diagnoses included: Joubert-, Jeune-, McKusick-Kaufman- and Bardet-Biedl syndrome, overgrowth syndromes, Mainzer-Saldino syndrome and renal tubular dysgenesis. Renal abnormalities most frequently observed were hyperechogenic parenchyma, kidney enlargement, changes of corticomedullary differentiation and cystic changes of various degree. Oligo- and anhydramnios were mainly seen in ARPKD, RTD and second-trimester MKS. Extrarenal findings included skeletal (35.7%) and cardiac (34.7%) abnormalities as well as abnormalities of the central nervous system (27.6%).
Gestational age at manifestation, kidney size, visibility of cysts, echogenicity, amniotic fluid volume, and the presence of associated extrarenal malformations allow to differentiate between the most frequent underlying diseases presenting with bilateral polycystic kidneys on prenatal ultrasound by following a diagnostic algorithm.
Retrospective observational study including pregnancies with prenatally detected kidneys with bilateral polycystic appearance (n = 98). Cases and outcomes were compared according to prenatal findings with special focus on renal morphology, amount of amniotic fluid, and presence of extrarenal abnormalities.
Most frequent diagnoses were autosomal recessive polycystic kidney disease (ARPKD, 53.1%), Meckel-Gruber syndrome (MKS, 17.3%) and autosomal dominant polycystic kidney disease (ADPKD, 8.2%). Other diagnoses included: Joubert-, Jeune-, McKusick-Kaufman- and Bardet-Biedl syndrome, overgrowth syndromes, Mainzer-Saldino syndrome and renal tubular dysgenesis. Renal abnormalities most frequently observed were hyperechogenic parenchyma, kidney enlargement, changes of corticomedullary differentiation and cystic changes of various degree. Oligo- and anhydramnios were mainly seen in ARPKD, RTD and second-trimester MKS. Extrarenal findings included skeletal (35.7%) and cardiac (34.7%) abnormalities as well as abnormalities of the central nervous system (27.6%).
Gestational age at manifestation, kidney size, visibility of cysts, echogenicity, amniotic fluid volume, and the presence of associated extrarenal malformations allow to differentiate between the most frequent underlying diseases presenting with bilateral polycystic kidneys on prenatal ultrasound by following a diagnostic algorithm.
摘要：
目的：在1999年至2020年期间，单中心产前检测到的双侧多囊性胎儿肾脏的诊断报告，特别关注肾脏形态和生物特征，羊水和肾外发现以及诊断算法的建议。
方法：回顾性观察性研究，包括产前检测到的肾脏具有双侧多囊外观的妊娠（n=98）。病例和结局根据产前发现进行比较，特别关注肾脏形态，羊水量，和肾外异常的存在。
结果：最常见的诊断是常染色体隐性遗传性多囊肾病（ARPKD，53.1%），Meckel-Gruber综合征（MKS，17.3％）和常染色体显性多囊肾病（ADPKD，8.2%）。其他诊断包括：Joubert-，Jeun-,McKusick-Kaufman-和Bardet-Biedl综合征,过度生长综合征,Mainzer-Saldino综合征与肾小管发育不全.最常见的肾脏异常是高回声实质，肾脏肿大,皮质髓质分化改变和不同程度的囊性改变。羊水过少主要见于ARPKD,RTD和中期MKS。肾外发现包括骨骼（35.7％）和心脏（34.7％）异常以及中枢神经系统异常（27.6％）。
结论：表现时的妊娠年龄，肾脏大小,囊肿的可见性，回声,羊水体积,并且相关肾外畸形的存在允许通过遵循诊断算法来区分产前超声检查中最常见的双侧多囊肾潜在疾病。
方法：回顾性观察性研究，包括产前检测到的肾脏具有双侧多囊外观的妊娠（n=98）。病例和结局根据产前发现进行比较，特别关注肾脏形态，羊水量，和肾外异常的存在。
结果：最常见的诊断是常染色体隐性遗传性多囊肾病（ARPKD，53.1%），Meckel-Gruber综合征（MKS，17.3％）和常染色体显性多囊肾病（ADPKD，8.2%）。其他诊断包括：Joubert-，Jeun-,McKusick-Kaufman-和Bardet-Biedl综合征,过度生长综合征,Mainzer-Saldino综合征与肾小管发育不全.最常见的肾脏异常是高回声实质，肾脏肿大,皮质髓质分化改变和不同程度的囊性改变。羊水过少主要见于ARPKD,RTD和中期MKS。肾外发现包括骨骼（35.7％）和心脏（34.7％）异常以及中枢神经系统异常（27.6％）。
结论：表现时的妊娠年龄，肾脏大小,囊肿的可见性，回声,羊水体积,并且相关肾外畸形的存在允许通过遵循诊断算法来区分产前超声检查中最常见的双侧多囊肾潜在疾病。
