胎儿多囊性肾病变的产前诊断和临床分析

目的探讨胎儿肾脏多囊性病变的原因和临床意义。方法本文对59例产前超声发现胎儿肾脏多发囊性病变患者进行临床管理,向患者交代可能的预后,让其知情选择,如患者选择终止妊娠放弃胎儿,则对患儿尸体进行解剖验证,并引产后取脐血进行染色体分析;如选择继续妊娠患者,定期随访,严密监测。结果1.59例患者产前诊断为多囊性肾病变,其中多囊性肾发育不良40例（27例选择了终止妊娠放弃胎儿,其中1例合并染色体异常,2例伴其他部位畸形;13例患者选择了继续妊娠,分别于出生后3个月至2.5岁时因并发症出现而选择患侧肾脏切除）;婴儿型多囊肾6例（2例合并多囊肝,1例染色体为21三体。4例选择终止妊娠放弃胎儿,病理证实为婴儿型多囊肾。另2例患者选择继续妊娠,其中1例患儿于新生儿期死亡,另1例患儿于出生后13个月死亡）;成人型多囊肾10例（染色体均正常。3例选择终止妊娠放弃胎儿,1例于新生儿期死亡;1例于出生后7个月死亡,其余5例目前临床无不适症状,正严密观察中）。2.3例胎儿肾多发囊肿患者,均为单侧肾脏发病,其中1例选择终止妊娠放弃胎儿,另1例患儿出生后1岁时行患侧肾切除术,另1例现已经生后11个月,没有任何临床症状,复查肾脏囊肿与出生前没有明显改变。结论胎儿肾脏多囊性病变类型多样,病因不尽相同,临床结局也不相同,建议产前仔细鉴别胎儿肾脏囊肿类型,根据囊肿类型对胎儿可能的预后给予产前合理评价及咨询意见。

Prenatal diagnosis and clinical analysis of fetal renal multicystic disease

Objective:To study the clinical significance and causes of fetal renal multicystic disease.Methods:59 cases with fetal renal multiple cyst disease were enrolled this study.For parents chose to terminate pregnancy,the autopsy was performed for the fetus;For parents chose to continue pregnancy,a close follow-up was given to them,and blood from fetal heart was used to analyze fetal chromosome.Results:1.5q cases were renal multiple cyst disease,40 of them were multicystic dysplastic kidney(27 cases chose a termination,one of them was 21 trisomy,two of them complicated with other organ abnormalities;13 cases were performed nephrectomy after birth from 3 months to 18 months).6 cases were diagnosed infant polycystic kidney disease(4 cases chose to terminate pregnancy,2 cases were died during neonatal period and 13 months after birth respectively);10 cases were adult multicystic dysplastic kidney(3 cases chose to terminate pregnancy,two cases died during neonatal period and 7 months after birth respectively).2.3 cases were unilateral renal multiple cyst(2-3 cysts with normal renal parenchyma),one of them chose to terminate pregnancy,one were performed nephrectomy when he was one year old,another was normal renal function without any clinical manifestation.Conclusions:Fetal renal multiple cyst disease was various types,different etiologies and different clinical outcomes.To differentiate the types and causes of fetal cystic disease is important for reasonable prenatal consultaion.