Büscher Rainer, Büscher Anja K, Weber Stefanie, Mohr Julia, Hegen Bianca, Vester Udo, Hoyer Peter F
Children's Hospital, Pediatrics II, University of Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany,
Pediatr Nephrol. 2014 Oct;29(10):1915-25. doi: 10.1007/s00467-013-2634-1. Epub 2013 Oct 10.
Autosomal recessive polycystic kidney disease (ARPKD), although less frequent than the dominant form, is a common, inherited ciliopathy of childhood that is caused by mutations in the PKHD1-gene on chromosome 6. The characteristic dilatation of the renal collecting ducts starts in utero and can present at any stage from infancy to adulthood. Renal insufficiency may already begin in utero and may lead to early abortion or oligohydramnios and lung hypoplasia in the newborn. However, there are also affected children who have no evidence of renal dysfunction in utero and who are born with normal renal function. Up to 30 % of patients die in the perinatal period, and those surviving the neonatal period reach end stage renal disease (ESRD) in infancy, early childhood or adolescence. In contrast, some affected patients have been diagnosed as adults with renal function ranging from normal to moderate renal insufficiency to ESRD. The clinical spectrum of ARPKD is broader than previously recognized. While bilateral renal enlargement with microcystic dilatation is the predominant clinical feature, arterial hypertension, intrahepatic biliary dysgenesis remain important manifestations that affect approximately 45 % of infants. All patients with ARPKD develop clinical findings of congenital hepatic fibrosis (CHF); however, non-obstructive dilation of the intrahepatic bile ducts in the liver (Caroli's disease) is seen at the histological level in only a subset of patients. Cholangitis and variceal bleeding, sequelae of portal hypertension, are life-threatening complications that may occur more often in advanced cases of liver disease. In this review we focus on common and uncommon kidney-related and non-kidney-related phenotypes. Clinical management of ARPKD patients should include consideration of potential problems related to these manifestations.
常染色体隐性多囊肾病（ARPKD）虽然不如显性形式常见，但却是一种常见的儿童遗传性纤毛病，由6号染色体上PKHD1基因的突变引起。肾集合管的特征性扩张始于子宫内，可在从婴儿期到成年期的任何阶段出现。肾功能不全可能在子宫内就已开始，并可能导致早期流产或羊水过少以及新生儿肺发育不全。然而，也有一些患病儿童在子宫内没有肾功能障碍的迹象，出生时肾功能正常。高达30%的患者在围产期死亡，而那些在新生儿期存活下来的患者在婴儿期、幼儿期或青少年期会发展为终末期肾病（ESRD）。相比之下，一些患病患者在成年时被诊断出肾功能从正常到中度肾功能不全再到ESRD不等。ARPKD的临床谱比以前认识到的更广泛。虽然双侧肾脏肿大伴微囊性扩张是主要临床特征，但动脉高血压、肝内胆管发育异常仍然是重要表现，约45%的婴儿受其影响。所有ARPKD患者都会出现先天性肝纤维化（CHF）的临床表现；然而，仅在一部分患者的组织学水平上可见肝脏内肝内胆管的非梗阻性扩张（卡罗里病）。胆管炎和静脉曲张出血是门静脉高压的后遗症，是可能在晚期肝病中更频繁发生的危及生命的并发症。在本综述中，我们关注常见和不常见的与肾脏相关及非肾脏相关的表型。ARPKD患者的临床管理应包括考虑与这些表现相关的潜在问题。
