Department of Pediatrics and Center for Molecular Medicine, Medical Faculty and University Hospital Cologne, University of Cologne, Kerpener Str. 62, 50937, Cologne, Germany.
Pediatr Nephrol. 2021 Nov;36(11):3561-3570. doi: 10.1007/s00467-021-04970-8. Epub 2021 Feb 17.
Autosomal recessive polycystic kidney disease (ARPKD) is a rare but highly relevant disorder in pediatric nephrology. This genetic disease is mainly caused by variants in the PKHD1 gene and is characterized by fibrocystic hepatorenal phenotypes with major clinical variability. ARPKD frequently presents perinatally, and the management of perinatal and early disease symptoms may be challenging. This review discusses aspects of early manifestations in ARPKD and its clincial management with a special focus on kidney disease.
常染色体隐性遗传性多囊肾病 (ARPKD) 是儿科肾脏病学中一种罕见但非常重要的疾病。这种遗传性疾病主要由 PKHD1 基因突变引起,其特征是肝肾功能纤维囊性病变,且具有较大的临床变异性。ARPKD 通常在围产期发病,围产期和早期疾病症状的处理可能具有挑战性。本文讨论了 ARPKD 的早期表现及其肾脏疾病的临床管理,重点介绍了该疾病。