PDF(Pubmed)
Abstract：
There are no clinical guidelines for performing nephrectomy in patients with autosomal recessive polycystic kidney disease (ARPKD). Few reports have described the clinical course of ARPKD diagnosed in the neonatal period in detail. Here, we report seven patients diagnosed with ARPKD and treated at our center during the neonatal period. Two died within 48 h of life due to pulmonary hypoplasia. Of the remaining five patients, three had anuria and required for kidney replacement therapy (KRT) within one week after birth, whereas two with a milder phenotype survived without KRT. All three patients who received KRT underwent unilateral nephrectomy and peritoneal dialysis (PD) catheter placement. To prevent fluid leakage, PD was initiated 7-14 days after catheter placement. However, peritoneal leakage occurred in two patients, resulting in peritonitis and discontinuation of PD; one who required long-term hemodialysis contracted a catheter-related bloodstream infection as well as developed subdural and epidural hematomas. Meanwhile, two patients underwent a second nephrectomy within 6 weeks after birth; one developed severe persistent hypotension and neurological complications, while the other died of bacteremia that may have resulted from cholangitis diagnosed on day 67 of life. A severe clinical course, life-threatening adverse events, and severe neurological sequalae may occur in patients with ARPKD who receive KRT in neonatal period.
摘要：
对于常染色体隐性遗传性多囊肾病（ARPKD）患者，尚无进行肾切除术的临床指南。很少有报道详细描述了在新生儿期诊断的ARPKD的临床过程。这里,我们报告了7例诊断为ARPKD并在我们中心接受治疗的患者在新生儿期.2人死于肺发育不全。剩下的五个病人,3人在出生后一周内出现无尿，需要进行肾脏替代疗法（KRT），而两个表型较温和的人在没有KRT的情况下存活。接受KRT的所有三名患者均接受了单侧肾切除术和腹膜透析（PD）导管放置。为防止液体泄漏，放置导管后7-14天开始PD。然而,两名患者发生腹膜渗漏，导致腹膜炎和PD停药;需要长期血液透析的人感染了导管相关的血流感染，并发展了硬膜下和硬膜外血肿。同时,两名患者在出生后6周内接受了第二次肾切除术；一名患者出现严重的持续性低血压和神经系统并发症，而另一人死于菌血症，可能是在生命的第67天诊断为胆管炎所致。严重的临床过程，危及生命的不良事件，在新生儿期接受KRT的ARPKD患者可能会出现严重的神经系统后遗症。
