胎儿常染色体隐性遗传性多囊肾的MRI表现(附10例分析)

Autosomal recessive polycystic kidney disease:appearance on fetal MRI

目的:探讨胎儿双侧常染色体隐性遗传性多囊肾(ARPKD)的MRI表现及其诊断价值。方法:对10例经超声和病理证实的胎儿双侧ARPKD的MRI影像资料进行回顾性分析。结果:①8例双肾体积明显均匀增大,但肾外形保持;②T2WI上,1例双肾信号呈中等以上增高,均匀一致;8例双肾皮髓质内见弥漫性针尖大小信号增高的囊泡影,呈放射状排列,笔者称为"苦瓜样"改变,1例信号正常;③羊水无法显示5例,羊水极少5例;④8例未见膀胱显示;⑤合并9种畸形,其中前脑无裂畸形1例,脑积水2例,Dandy-Walker综合征2例,枕部脑膜膨出2例,颅内出血并孔洞脑1例,肺发育不良5例,多发性肝囊肿1例,唇裂1例,Meckel-Gruber综合征1例。结论:ARPKD的MRI表现具有特异性,且不受羊水量和胎儿体位的影响,可作为产前超声检查的重要补充手段,并提高其合并畸形的检出率。

Objective：To investigate the MRI findings and the value in the diagnosis of the fetal bilateral autosomal recessive polycystic kidney disease（ARPKD）.Methods：MRI findings of 10 cases with ultrasound and pathology verified fetal bilateral ARPKD were retrospectively analyzed.Results：①There was significant increase of volume of bilateral kidney,with maintaning of the renal shape;②In one case on T2WI there was moderate to marked homogeneous increase of signal intensity of both kidney;in 8 cases there were diffuse pinpoint sized hyperintense cystic changes in cortico-medullary region of both kidney with radiated arrangement,we called it ＂karala-like＂ sign.In one case the signal intensity of bilateral kidney was normal;③In five cases the amniotic fluid could not be shown,and in other 5 cases only.very little amniotic fluid could be observed;④In 8 cases the urinary bladder was not shown;⑤there were nine forms of complicated malformations：holoprosencephaly（1 case）,hydrocephalus（2 cases）,Dandy-Walker syndrome（2 cases）,occipital meningocele（2 cases）,intracranial hemorrhage and porencephaly（1 case）,pulmonary hypoplasia（5 cases）,multiple liver cysts（1 case）,cleft lip（1 case）,and Meckel-Gruber syndrome（1 case）.Conclusion：MRI finding of the ARPKD has the specificity.It can be used as an important complementary diagnostic modality for prenatal ultrasound examination,it is not affected by the volume of amniotic fluid and can increase the detection rate of the combined abnormalities.