Department of Pediatric Nephrology, Akron Children's Hospital, Akron, OH; Department of Nephrology, Akron Nephrology Associates/Cleveland Clinic Akron General Medical Center, Akron, OH.
Department of Nephrology, Akron Nephrology Associates/Cleveland Clinic Akron General Medical Center, Akron, OH.
Am J Kidney Dis. 2021 Jul;78(1):125-141. doi: 10.1053/j.ajkd.2020.10.021. Epub 2021 Jan 6.
Renal cystic disease encompasses a large variety of illnesses with various phenotypic expressions that can manifest in utero, in infancy, and in childhood. These diseases may be unilateral or bilateral and present with single or multiple cysts. Various cystic diseases may also progress to chronic kidney disease (CKD), including kidney failure, and hepatic disease, thus potentially being life threatening. The prevalence and serious complications of CKD in the pediatric population make it vital that health care providers detect these conditions early and provide effective management. This installment of AJKD's Core Curriculum in Nephrology discusses various genetic and sporadic kidney cystic diseases, including multicystic dysplastic kidney, nephronophthisis, cystic dysplasia, hepatocyte nuclear factor 1-β (HNF1-β) nephropathy, Bardet-Biedl syndrome, Meckel-Gruber syndrome, Zellweger syndrome, calyceal diverticulum, autosomal recessive polycystic kidney disease (ARPKD), and autosomal dominant polycystic kidney disease (ADPKD). This article discusses the epidemiology, genetics and pathophysiology, diagnosis, presentation, and management for each of these renal cystic diseases, with particular attention to prenatal care and pregnancy counseling.
肾囊性疾病包括多种具有不同表型表现的疾病，这些疾病可在胎儿期、婴儿期和儿童期表现出来。这些疾病可以是单侧或双侧的，也可以表现为单个或多个囊肿。各种囊性疾病也可能进展为慢性肾脏病（CKD），包括肾衰竭和肝脏疾病，因此可能危及生命。儿童人群中 CKD 的患病率和严重并发症使得医疗保健提供者早期发现这些疾病并提供有效的管理至关重要。本期 AJKD 的肾脏病学核心课程讨论了各种遗传性和散发性肾囊性疾病，包括多囊性发育不良肾、肾单位肾痨、囊性发育不良、肝细胞核因子 1-β（HNF1-β）肾病、Bardet-Biedl 综合征、Meckel-Gruber 综合征、Zellweger 综合征、肾盂憩室、常染色体隐性多囊肾病（ARPKD）和常染色体显性多囊肾病（ADPKD）。本文讨论了这些肾囊性疾病的流行病学、遗传学和病理生理学、诊断、表现和管理，特别关注产前保健和妊娠咨询。
