眼—脑—肾综合征(Oculo-cerbro-renalSyndrome)是一种以先天性眼部异常、智力低下、肌张力降低、蛋白尿、全氨基酸尿等肾功紊乱以及周期代谢性酸中毒、佝偻病等为特征的一种遗传代谢性疾病。本综合征首先由Lowe氏等报道,故称为Lowe氏综合征。现报告1例如下: 病例摘要男,3岁3个月,第一胎,足月顺产,出生体重2.75kg。生后1个月发现双眼视物不清,眼科诊断为白内障,准备手术治疗。术前常规检查发现尿蛋白++,而转入儿科。门诊多次查尿蛋白均在++—+++之间,因未确诊而未给予任何洽疗。直至3岁3个月仍双眼视物不清,不会翻身、爬、坐、 Oculo-cerbro-renal syndrome (Syndrome) is a congenital ocular abnormalities, mental retardation, hypotonia, proteinuria, all-amino aciduria and other renal disorders and metabolic acidosis, rickets, etc. As a feature of a genetic metabolic disease. The syndrome was first reported by Lowe et al., So called Lowe’s syndrome. Now report a case as follows: Case summary Male, 3 years old and 3 months, the first child, term full-term birth, birth weight 2.75kg. One month after birth, his eyes were not clear, his eye was diagnosed as cataracts, and he was ready for surgery. Preoperative routine examination revealed urinary protein ++, and transferred to pediatrics. Outpatient urinalysis repeatedly in the ++ - +++, not diagnosed without any treatment. Until the age of 3 years old still binocular vision is unclear, will not stand up, climb, sit,