Nephronophthisis: a genetically diverse ciliopathy.
Nephronophthisis: a genetically diverse ciliopathy.
复制标题
DOI：
10.4061/2011/527137
复制
发表时间：
2011
影响因子：
2.1
通讯作者：
Sayer JA
中科院分区：
文献类型：
--
作者：
Simms RJ;Hynes AM;Eley L;Sayer JA
肾病综合征（NPHP）是一种常染色体隐性遗传性囊性肾病，是儿童和年轻人肾功能衰竭（ERF）的主要遗传原因。NPHP患儿的早期症状包括多尿、尿失禁或继发性遗尿，提示尿浓缩缺陷。肾脏超声通常显示肾脏大小正常，回声增强和皮髓质囊肿。重要的是，NPHP与10-15%患者的肾外表现相关。最常见的肾外关联是视网膜变性，导致失明。越来越多的分子遗传学检测被用于诊断NPHP，避免了肾活检的需要。本文就NPHP的分子和细胞发病机制的最新研究进展作一综述。我们建议一个适当的临床管理计划和筛查计划与NPHP的个人和他们的家庭。
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults. Early presenting symptoms in children with NPHP include polyuria, nocturia, or secondary enuresis, pointing to a urinary concentrating defect. Renal ultrasound typically shows normal kidney size with increased echogenicity and corticomedullary cysts. Importantly, NPHP is associated with extra renal manifestations in 10–15% of patients. The most frequent extrarenal association is retinal degeneration, leading to blindness. Increasingly, molecular genetic testing is being utilised to diagnose NPHP and avoid the need for a renal biopsy. In this paper, we discuss the latest understanding in the molecular and cellular pathogenesis of NPHP. We suggest an appropriate clinical management plan and screening programme for individuals with NPHP and their families.