A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.
A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.
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DOI：
10.5414/cnp72497
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发表时间：
2009-12
影响因子：
1.1
通讯作者：
T. Miyazawa;M. Nakano;Y. Takemura;K. Miyazaki;H. Yanagida;S. Fujita;K. Sugimoto;M. Okada;T. Takemura
中科院分区：
文献类型：
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作者：
T. Miyazawa;M. Nakano;Y. Takemura;K. Miyazaki;H. Yanagida;S. Fujita;K. Sugimoto;M. Okada;T. Takemura
一例青少年男性肾缺损综合征（RCS）显示发育迟缓的描述。出生和围产期的历史是典型的。蛋白尿最初是在7岁时，在每年的大规模筛查计划的学童。他的尿液定期在当地医院检查。由于蛋白尿增加，他被转诊到我们医院进行进一步的临床评估。蛋白尿为中度，范围为1.0 - 1.5 g/天，伴有轻度肾功能不全。当时，他被发现患有近视伴散光。通过WISC-III测试评估，他表现出轻度发育迟缓。肾活检标本显示明显的肾小球增大、肾小球毛细血管塌陷、系膜基质扩张和肾小管间质改变，显示了RCS的典型组织学特征。开始随访后约5年，患者出现重度肾功能不全。此外，视神经缺损也很明显。患者的遗传分析显示PAX 2基因外显子3（P130 H）中存在一种新的杂合突变。
A case of an adolescent male with renal-coloboma syndrome (RCS) showing developmental delay is described. Birth and perinatal histories were typical. Proteinuria was initially observed at the age of 7 years during an annual mass screening program for school children. His urine was checked periodically at a local hospital. Because of an increase in proteinuria, he was referred to our hospital for further clinical evaluation. Proteinuria was moderate, ranging from 1.0 to 1.5 g/day, and was coupled with mild renal dysfunction. At that time, he was found to have myopia associated with astigmatism. He exhibited mild developmental delay, assessed by a WISC-III test. A renal biopsy sample showed marked glomerular enlargement, collapse of glomerular capillaries, mesangial matrix expansion, and tubulointerstitial change, demonstrating typical histologic features of RCS. Approximately five years after starting follow-up, the patient had severe renal dysfunction. Furthermore, optic nerve coloboma was also evident. Genetic analysis of the patient revealed a novel heterozygous mutation in exon 3 of the PAX2 gene (P130H).