Simms Roslyn J, Hynes Ann Marie, Eley Lorraine, Sayer John A
Institute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Int J Nephrol. 2011;2011:527137. doi: 10.4061/2011/527137. Epub 2011 May 15.
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.
肾单位肾痨（NPHP）是一种常染色体隐性遗传性囊性肾病，是儿童和年轻成人终末期肾衰竭（ERF）的主要遗传病因。NPHP患儿的早期症状包括多尿、夜尿或继发性遗尿，提示存在尿浓缩功能缺陷。肾脏超声检查通常显示肾脏大小正常，但回声增强，并有皮质髓质囊肿。重要的是，10% - 15%的NPHP患者伴有肾外表现。最常见的肾外表现是视网膜变性，可导致失明。越来越多的分子遗传学检测被用于诊断NPHP，从而避免肾活检的必要性。在本文中，我们讨论了NPHP分子和细胞发病机制的最新认识。我们为NPHP患者及其家属提出了适当的临床管理计划和筛查方案。
