PDF(Pubmed)
Abstract：
Congenital anomalies of the kidney and urinary tract (CAKUT) are among the most common birth defects worldwide and a major cause of kidney failure in children. Extra-renal manifestations are also common. This study reviewed diseases associated with the Genomics England CAKUT-associated gene panel for ocular anomalies. In addition, each gene was examined for expression in the human retina and an ocular phenotype in mouse models using the Human Protein Atlas and Mouse Genome Informatics databases, respectively. Thirty-four (54%) of the 63 CAKUT-associated genes (55 \'green\' and 8 \'amber\') had a reported ocular phenotype. Five of the 6 most common CAKUT-associated genes (PAX2, EYA1, SALL1, GATA3, PBX1) that represent 30% of all diagnoses had ocular features. The ocular abnormalities found with most CAKUT-associated genes and with five of the six commonest were coloboma, microphthalmia, optic disc anomalies, refraction errors (astigmatism, myopia, and hypermetropia), and cataract. Seven of the CAKUT-associated genes studied (11%) had no reported ocular features but were expressed in the human retina or had an ocular phenotype in a mouse model, which suggested further possibly-unrecognised abnormalities. About one third of CAKUT-associated genes (18, 29%) had no ocular associations and were not expressed in the retina, and the corresponding mouse models had no ocular phenotype. Ocular abnormalities in individuals with CAKUT suggest a genetic basis for the disease and sometimes indicate the affected gene. Individuals with CAKUT often have ocular abnormalities and may require an ophthalmic review, monitoring, and treatment to preserve vision.
摘要：
先天性肾脏和泌尿道异常（CAKUT）是全球最常见的出生缺陷之一，也是儿童肾衰竭的主要原因。肾外表现也很常见。这项研究回顾了与基因组学英格兰CAKUT相关基因小组相关的眼部异常疾病。此外,使用人类蛋白质图谱和小鼠基因组信息学数据库检查每个基因在人类视网膜中的表达和小鼠模型中的眼部表型，分别。63个CAKUT相关基因中有34个（54％）（55个“绿色”和8个“琥珀色”）具有已报告的眼部表型。6个最常见的CAKUT相关基因中的5个（PAX2，EYA1，SALL1，GATA3，PBX1）代表所有诊断的30％具有眼部特征。与大多数CAKUT相关基因和六个最常见基因中的五个发现的眼部异常是结肠瘤，小眼症,视盘异常,屈光误差(散光，近视,和远视)，和白内障。研究的CAKUT相关基因中有7个（11％）没有报道的眼部特征，但在人类视网膜中表达或在小鼠模型中具有眼部表型。这表明了进一步可能无法识别的异常。约三分之一的CAKUT相关基因（18，29％）没有眼部关联，并且在视网膜中没有表达，相应的小鼠模型没有眼部表型。CAKUT患者的眼部异常提示该疾病的遗传基础，有时提示受影响的基因。患有CAKUT的人通常有眼部异常，可能需要进行眼科检查，监测,和保持视力的治疗。
